You are on page 1of 64

About Spina Bifida

What is Spina Bifida?

Spina Bifida is the most common permanently disabling birth defect in the United
States. An average of 8 babies every day are born with Spina Bifida or a similar birth
defect of the brain and spine. There are over 60 million women in the U.S. who could
become pregnant and each one is at risk of having a baby born with Spina Bifida.

Spina Bifida occurs when the spine of the baby fails to close. This creates an opening, or
lesion, on the spinal column. Spina Bifida happens during the first month of pregnancy
when the spinal column and brain, or neural tube, is formed. This is before most women
even know they are pregnant.

Because of the opening on the spinal column, the nerves in the spinal column may be
damaged and not work properly. This results in some degree of paralysis. The higher
the lesion is on the spinal column, the greater the likelihood of increased paralysis.

Surgery to close the spine is generally done within hours after birth. Surgery helps to
reduce the risk of infection and to protect the spinal cord from greater damage.

Screening tests for abnormalities in pregnancy

Checks for abnormality
Most expectant parents worry at some time during pregnancy that
there may be something wrong with their baby. Some people find
that talking openly about their fears helps them to cope. Others
prefer not to think about the possibility that something could be
Some women worry because they are convinced that if
something does go wrong it will be their fault. You can increase
your baby's chances of being born healthy by following the advice
about your health during pregnancy, including information on
healthy diet, exercise, smoking and drinking. However, there are
certain problems that can't be prevented, either because the
causes are not known, or because they are beyond your control.
How common are abnormalities?
Of all the babies born in the UK, 97% are healthy and 1% will be
born with abnormalities that can be partly or completely corrected.
However, about 2% of babies will have a major abnormality that
cannot be corrected. Screening tests help to pick up potential
problems and allow appropriate action to be taken.
If you are particularly concerned – perhaps because you or
someone in your family has an abnormality or a disability – talk to
your midwife or doctor as soon as possible. They may be able to
reassure you or offer you helpful information and tests to check
for abnormalities, which can be done during pregnancy.
If you have previously had a baby with an abnormality or disability,
talk to your midwife or doctor and see if you need any additional
care during this pregnancy.
What abnormalities will I be screened for?
You'll be routinely offered screening tests for:
 spina bifida

 Down's syndrome

 thalassaemia

And also possibly:

 sickle cell anaemia (if you are at risk)

 Tay sachs disease (if you or your partner are Jewish)

 cystic fibrosis (if there is a family history)

What screening tests are used?

The screening tests offered during pregnancy are
either ultrasound scans or blood tests, or a combination of both.
Ultrasound scans may detect structural abnormalities, such as
spina bifida. Blood tests and scans can help to detect
chromosomal abnormalities, such as Down’s syndrome. Find out
more about screening for Down’s syndrome.
Down’s syndrome is caused by an abnormal number of
chromosomes. Chromosomes are the structures within every cell
of a person’s body, they carry the individual genetic code or
'instructions' to make that person. Conditions such as cystic
fibrosis and achondroplasia(dwarfism) are caused by
abnormalities within the chromosomes (a ‘mistake’ in the genetic
You’ll be offered an anomaly scan when you are around 18-20
weeks pregnant.
Screening tests for spina bifida and Down's
You'll be offered screening tests that can detect structural
abnormalities, such as spina bifida, which is an abnormality of the
spine, or some chromosomal abnormalities, such as Down's
syndrome. Different maternity units may use different tests, but all
tests will meet national standards. You can discuss the tests and
what they mean with your midwife.
Screening tests can:
 reassure you that your baby is likely to be born healthy

 give you time to prepare for the arrival of a baby with special needs

 allow you to consider the termination of an affected pregnancy

Tests can also provide valuable information for your care during
pregnancy. However, no test can guarantee that your baby will be
born without an abnormality. No screening test is 100% accurate,
and some abnormalities may be undetected before the birth.
Who can be a carrier?
Anyone can be a carrier. However, it is more likely that you will
carry the unusual gene if you or your ancestors came from places
where malaria has been common. This is because being a carrier
can help protect people against malaria. This means you are
more likely to be a carrier if your ancestors came from the
Mediterranean (for example Cyprus, Italy, Portugal and Spain),
Africa, the Caribbean, the Middle East, India, Pakistan,
Bangladesh, Sri Lanka, South America or south and south-east
These tests early in your pregnancy give you the chance to talk to
a counsellor and find out more about the disorders and the care
available. If you want to, you can have another test to confirm
whether your baby has one of the disorders
(see amniocentesis and chorionic villus sampling).
If the test shows that you are a carrier, there is a chance that
other family members could be carriers too. You may want to
encourage them to ask for a test, especially if they are planning
to have a baby.
Although people who are carriers of sickle cell anaemia are
healthy, they can experience some problems in rare situations
where their bodies might not get enough oxygen (for example,
when having an anaesthetic before an operation or if they go
deep-sea diving). Knowing that you are a carrier can help you
manage these situations. However, people who carry
thalassaemia or other unusual haemoglobin genes do not
experience these problems.
Why should the baby’s father have a test?
Babies can only inherit the disorders if both parents carry the
unusual gene. So if you are a carrier, it is important to find out
whether the baby’s father is also a carrier. If he is not available or
does not want to have a test, you may be offered another test to
find out whether your baby has sickle cell anaemia or
If you and the baby’s father both carry the gene for sickle cell
disorder, thalassaemia or another haemoglobin disorder, for each
baby you have there is:
 a 25% chance that your baby will not be affected (that is, they will not have or carry a disorder)

 a 50% chance that your baby will be a carrier

 a 25% chance that your baby will have a disorder

If both you and the baby’s father are found to be carriers, you will
be offered a test to confirm whether your baby is affected. This
test is either an amniocentesis or a chorionic villus sample (CVS).
Deciding whether to have tests
When you're deciding whether or not to have a test, think about
what you might do if the test suggests that your baby has an
abnormality. If a screening test suggests a higher chance of a
chromosomal abnormality, you'll be offered diagnostic tests, such
as amniocentesis, which will give a more definite diagnosis.
These diagnostic tests carry a small risk of miscarriage, so you
may decide not to have them. Discuss the issue with your partner,
midwife, doctor, or friends to help you decide what's right for you.
What is amniocentesis?
Amniocentesis is a test carried out during pregnancy
which involves using a fine needle to remove a small
amount of the amniotic fluid around the unborn baby. It
is a widely used procedure which usually takes about 10
Amniocentesis is usually carried out between weeks
15 and 18 of pregnancy. However, the test can be done
later in pregnancy.
Immediately before the test, your abdomen is cleaned
to make sure that the test can take place in the most
sterile conditions possible. During the amniocentesis, a
sonographer puts gel on your abdomen. You will then
have an ultrasound scan to check the position of your
baby. The sonographer or doctor will keep scanning
you throughout the procedure. A fine needle is then
inserted through your skin, through your abdomen and
into your womb. The needle is used to remove a small
sample of the amniotic fluid surrounding your baby. This
fluid contains cells from the baby, which will be examined
at the laboratory and the baby’s chromosomes counted.
About one in every 100 samples does not produce a
result because the cells do not grow or the results are
not clear. If this happens, you will be offered a second
Are these procedures safe?
These procedures are not completely safe, and this is why
we don’t offer them to everybody. The overall risk of you
having a miscarriage after CVS is about 1 to 2%. In other
words, about one or two in every 100 women who have
CVS will miscarry. For amniocentesis, the rate is about
one in 100. These figures vary slightly from hospital to
hospital. If you would like to know the miscarriage rates
after CVS or amniocentesis in your hospital, please ask
your doctor or midwife.
Are the tests painful?
Many women find the procedures uncomfortable but
they should not be painful. For a day or two afterwards
you will be advised to take things easy. If possible, you
should avoid activities that involve lifting, bending or
stretching. You may have some discomfort in your lower
abdomen for a day or two after the procedure. This is
normal, and you can take paracetamol to relieve the
discomfort. Remember, you can only take a maximum of
eight tablets in 24 hours. If you are worried about taking
painkillers or have any questions, you should talk to your
doctor or midwife.

Open spina bifida

Spina bifida is when your baby’s

spinal cord has not developed
properly and there is a gap or
split in the spine.

90% of chances of being seen

Spina bifida is one of the possible neural tube defects that can occur during early embryological development. See the
separate overview article on Neural Tube Defects.
In spina bifida, the vertebral arch of the spinal column is either incompletely formed or absent. The defect can occur
anywhere from the base of the skull to the sacrum. It is most commonly found in the lumbar region. Neurological
symptoms and signs generally correspond to the level of the defect. Spina bifida can be classified based on the type of
spinal defect:

 Spina bifida occulta: the overlying skin is intact, there is a bony vertebral arch defect but no visible external
overlying sac. There is no protrusion of the spinal cord or its membranes. This may affect up to 10% of the
population and is most common at the lumbosacral junction. This is a closed form of spina bifida.
 Spina bifida cystica: there is both a vertebral defect and a visible cystic mass on the back. This is an 'open'
form of spina bifida. It can be subdivided into:
 Meningocele - there is a cystic swelling of the dura and arachnoid mater which protrudes through the
vertebral arch defect. No spinal neural tissue is present within the sac. There may be no neurological
 Myelomeningocele - spinal neural tissue forms part of the sac. Excluding spina bifida occulta, this is the
most common form of spina bifida.
 Rachischisis - this is the most severe form of spina bifida cystica. The spine lies widely open and the
neural plate has spread out on to the surface. It is often associated with anencephaly.
Arnold-Chiari type II malformation is often associated with myelomeningocele. Here there is cerebellar hypoplasia
and displacement of the hindbrain through a widened foramen magnum. Cerebrospinal fluid (CSF) flow can be
disrupted and hydrocephalus can result.

 The prevalence varies across time, by region and by both race and ethnicity. It also tends to be more common in
 Myelomeningocele affects about 1 in every 2,000 pregnancies. [2]
 The rate has declined markedly since the policy of folic acid supplementation was introduced.[3]
 Siblings of patients with spina bifida have an increased incidence of neural tube defects. [4]
NEW - log your activity

 Add notes to any clinical page and create a reflective diary

 Automatically track and log every page you have viewed

 Print and export a summary to use in your appraisal

Click to find out more »

The cause of spina bifida is thought to be multifactorial:
 There appears to be a combination of genetic susceptibility with environmental precipitants, particularly
shortage of folic acid in the mother's diet at a crucial stage in embryogenesis (days 17-30 when many mothers
are unaware that they are pregnant). This is when the neural tube is forming and closing.
 Supplementation of newly pregnant mothers' diets and periconceptual advice to increase folic acid intake have
been shown to reduce the incidence of neural tube defects significantly. [3]
 Chromosomal abnormalities including trisomy 13 (Patau's syndrome), 18 (Edwards' syndrome) and 21 (Down's
syndrome) have been associated with neural tube defects.
 Association has been suggested with maternal diabetes and maternal alcohol exposure.
 Maternal use of sodium valproate and carbamazepine.[5] Risk is greater with valproate.

Spina bifida cystica
 The abnormal herniation of the dural sac/neural tissue is usually evident, either during antenatal ultrasound
scanning or at birth.
 Classically, the disruption of spinal cord function causes sensory dysfunction, flaccid paralysis and areflexia
below the affected level. An alternative pattern includes the preservation of some distal reflex activity which is
usually exaggerated.
 In cases of meningocele alone, the herniation of the meninges is often covered by skin so the lesion may be
more difficult to detect.
 Imbalanced muscle forces can lead to spinal deformity, limb contractures and joint dislocations.
 Arnold-Chiari II malformation may present with stridor or apnoea. Impaired cerebellar function can affect
balance, co-ordination and walking. Hydrocephalus, seizures and impaired cognitive function may be present.[1]
Spina bifida occulta
 This is common and more difficult to detect.
 There are usually no neurological sequelae or long-term consequence.
 There may be no cutaneous marker, or there may be an obvious abnormality along the spine including:
 A fluid-filled cystic mass.
 An area of hyperpigmentation or hypopigmentation.
 Cutis aplasia.
 Congenital dermal sinus (this may lead to meningitis or spinal abscess).
 Capillary telangiectasias/haemangioma.
 Hypertrichosis (a hairy patch of skin).
 Skin appendages.
 An asymmetrical gluteal cleft.
 The risk of significant spinal malformations in asymptomatic, healthy infants with an isolated simple sacral
dimple is very low.[6]
 Asymmetry of the legs/feet may be present.
 Scoliosis or other spinal deformities may develop.
 Progressive neurological motor and/or sensory deficits can develop with associated bladder or bowel
disturbance (because of associated tethering of the spinal cord).
 There may be low back pain as the individual gets older.
 A sudden onset of pain, motor and sensory loss and bladder dysfunction can occur after acute trauma if there is
spinal cord tethering.

Differential diagnosis
 The classical appearance of spina bifida cystica is not likely to be confused with other pathologies.

 Examine the spine and note the site and size of any lesion. Look for any spinal deformity.
 Perform a complete neurological examination of the newborn. Document any neurological abnormalities. This
will act as a baseline:
 Measure head circumference.
 Assess cry and sucking reflex.
 Assess anal sphincter.
 Examine urinary stream.
 Perform a full motor examination, including assessment of muscle bulk, spontaneous active movements,
muscle tone and movements in response to stimulation.
 Perform a full sensory examination.
 Look for foot and hip deformities.

Prenatal diagnosis
 Raised levels of maternal serum alpha-fetoprotein (AFP) at 16-18 weeks of gestation are found in neural tube
 The 18- to 20-week fetal anomaly screening ultrasound scan allows detection and diagnosis of neural tube
defects and is much more specific.[7]
 When amniocentesis is done, amniotic fluid AFP and acetylcholinesterase concentrations can be used to
differentiate between open ventral wall defects (gastroschisis and omphalocele) and open neural tube defects.
Investigation of confirmed spina bifida
 Screening bloods can be carried out to detect any evidence of impairment of other organ systems, particularly
renal impairment.
 Urine culture and urodynamics may be needed to detect any abnormality of the urinary tract caused by impaired
bladder innervation.
 Latex allergy is relatively common among sufferers of spina bifida, probably due to inherent susceptibility and
repeated exposure to surgical procedures.[8]
 Enzyme-linked immunosorbent assay (ELISA) or skin-prick sensitivity testing may be needed to avoid illness
caused by latex exposure. 40% of children with myelomeningocele may be latex-sensitive.
 Plain X-rays of the spine can help to detect any associated scoliosis and hip dysplasia or dislocation.
 CT and/or MRI scanning of the head and spinal cord may be conducted to look for evidence of the major
complications of spina bifida, such as:
 Hydrocephalus due to Arnold-Chiari II malformation.
 Tethering of the spinal cord by fibrous bands.
 Gait analysis may be needed to evaluate a patient's functional mobility and allow intervention to improve
independent mobility through the use of orthoses or surgery.

General measures
 Nurse any newborn with an open neural tube defect in the prone position and cover the defect with a sterile wet
saline dressing.
 A multidisciplinary team approach is needed in the management of an infant with spina bifida.
 Treatment aims are to maximise mobility, prevent or ameliorate complications of spina bifida (particularly
hydrocephalus), encourage as normal as possible development, and to help the individual maintain as
independent a life as possible.
Repair of the defect
 Fetal surgery for myelomeningocele before 26 weeks of gestation may preserve neurological function, reverse
the hindbrain herniation of the Chiari II malformation, and prevent the need for postnatal placement of a
ventriculoperitoneal shunt.[9]
 Postnatal surgical treatment to correct the spinal cord malformation must be achieved during the first days of
Other interventions
 Ongoing management of mobility, utilising orthopaedic assessment, bracing and orthopaedic surgery, is often
necessary. Spinal fusion, hip, pelvic or foot/ankle procedures are often needed. [11]
 Prolonged physiotherapy, access to gym resources and/or adaptive training in children can be very helpful in
maintaining independence and mobility.
 Developmental assessment by a paediatrician and help with maintaining a normal weight (weight gain is
common due to impaired ambulation and can increase morbidity) are useful.
 Occupational therapy assessment and intervention can help to maximise function.
 Psychological input for the individual and their family to deal with the ramifications of their condition as they
grow older is often needed.
 Neurosurgical follow-up is necessary to detect and treat complications such as hydrocephalus or a possible
tethered cord.
 Bladder and bowel function can be maintained or aided by the use of a regular bowel voiding regimen and
intermittent self-catheterisation.

 Meningitis (especially in open neural tube defects).
 Fractures (particularly of lower-limb long bones) and hip dislocations. These may be asymptomatic. There may
be disuse osteoporosis and osteopenia.
 Pressure sores because of problems with mobility.
 Skin ulceration around orthoses/braces.
 Hydrocephalus due to Arnold-Chiari II malformation causing developmental impairment.
 Neurogenic bladder causing incontinence and urinary tract infection.
 Constipation due to impaired bowel innervation and anal sphincter function.
 Latex allergy leading to anaphylaxis.[8]

With the advent of prenatal surgery, early repair of postnatal myelomeningocele, shunting to prevent hydrocephalus
and expectant management of complications, most patients born with spina bifida survive into adulthood and develop
relatively normally intellectually.

 Long-term survival depends on adherence to appropriate bowel and bladder regimens and careful management
of urinary complications to prevent chronic kidney disease.
 Long-term outlook is very variable and depends on the degree of neurological deficit. [12]
 Patients with hydrocephalus and a lesion at the level of L2 or above seem to be more dependent with regards to
sphincter control, locomotion, self-care, social cognition, and communication.[13]
 Half of deaths (after the age of 5 years) are sudden and unexpected. Most occur in the community and the most
frequent causes are epilepsy, pulmonary embolus, acute hydrocephalus and acute renal sepsis. [14]

 Periconceptual supplementation of folic acid and improved folate content in the diet of the general population
(possibly through food fortification).[3]
 Folic acid may also help to reduce the severity of neural tube defects as well as preventing their occurence.[15]
 Improved prenatal diagnosis and prenatal surgery or termination of some pregnancies may reduce the future
burden of disability caused by this condition.
Provide Feedback
Further reading & references
1. Mitchell LE, Adzick NS, Melchionne J, et al; Spina bifida. Lancet. 2004 Nov 20-26;364(9448):1885-95.
2. Copp AJ, Stanier P, Greene ND; Neural tube defects: recent advances, unsolved questions, and controversies.
Lancet Neurol. 2013 Aug;12(8):799-810. doi: 10.1016/S1474-4422(13)70110-8. Epub 2013 Jun 19.
3. De-Regil LM, Fernandez-Gaxiola AC, Dowswell T, et al; Effects and safety of periconceptional folate
supplementation for preventing birth defects. Cochrane Database Syst Rev. 2010 Oct 6;(10):CD007950. doi:
4. Neural tube defects; Online Mendelian Inheritance in Man (OMIM)
5. Jentink J, Dolk H, Loane MA, et al; Intrauterine exposure to carbamazepine and specific congenital
malformations: BMJ. 2010 Dec 2;341:c6581. doi: 10.1136/bmj.c6581.
6. Kucera JN, Coley I, O'Hara S, et al; The simple sacral dimple: diagnostic yield of ultrasound in neonates.
Pediatr Radiol. 2014 Jul 5.
7. Cameron M, Moran P; Prenatal screening and diagnosis of neural tube defects. Prenat Diagn. 2009
8. Ausili E, Tabacco F, Focarelli B, et al; Prevalence of latex allergy in spina bifida: genetic and environmental
risk Eur Rev Med Pharmacol Sci. 2007 May-Jun;11(3):149-53.
9. Adzick NS; Fetal surgery for spina bifida: past, present, future. Semin Pediatr Surg. 2013 Feb;22(1):10-7. doi:
10. Zerah M, Kulkarni AV; Spinal cord malformations. Handb Clin Neurol. 2013;112:975-91. doi: 10.1016/B978-
11. Swaroop VT, Dias L; Orthopedic management of spina bifida. Part I: hip, knee, and rotational J Child Orthop.
2009 Oct 25.
12. Oakeshott P, Hunt GM, Poulton A, et al; Open spina bifida: birth findings predict long-term outcome. Arch Dis
Child. 2012 May;97(5):474-6. doi: 10.1136/archdischild-2011-300624. Epub 2011 Nov 25.
13. Verhoef M, Barf HA, Post MW, et al; Functional independence among young adults with spina bifida, in
relation to hydrocephalus and level of lesion. Dev Med Child Neurol. 2006 Feb;48(2):114-9.
14. Oakeshott P, Hunt GM, Poulton A, et al; Expectation of life and unexpected death in open spina bifida: a 40-
year Dev Med Child Neurol. 2010 Aug;52(8):749-53. Epub 2009 Dec 9.
15. Bol KA, Collins JS, Kirby RS; Survival of infants with neural tube defects in the presence of folic acid
fortification. Pediatrics. 2006 Mar;117(3):803-13.

Prenatal screening
See also separate article Prenatal Diagnosis.
 Prenatal screening is possible by measurement of maternal serum alpha-fetoprotein or
 Alpha-fetoprotein in maternal serum: it is best detected at 16-18 weeks of pregnancy but
may not detect closed defects and is less sensitive in women taking valproate.
 Ultrasound: is an effective technique for detecting NTDs and detects more NTDs than
serum alpha-fetoprotein.[8] It can detect anencephaly from the 12th week and spina
bifida from 16-20 weeks (may occasionally be missed, especially in the L5-S2 region).
 Second-trimester ultrasound examination increases detection rate of spina bifida to 92-
95% and detection of anencephaly to 100%.[9]
 Amniocentesis: this is only used when it has not been possible to obtain adequate
ultrasound images; it is used to measure alpha-fetoprotein and neuronal

There is no cure for spina bifida. The nerve tissue that is damaged or lost cannot be repaired or replaced.
However, certain treatments are effective. The aim of treatment is to enable the child to reach the highest degree
of functioning and independence. The type of treatment required depends on the type and severity of the
disorder. Generally, children born with the mild form of spina bifida (spina bifida occulta) need no immediate
treatment, although some may require monitoring for signs of spinal cord dysfunction and surgery if it occurs.
Infants born with meningocele usually need surgical removal of the cyst and go on to live with no or little

Early Intervention
However, the situation is different for babies born with myelomeningocele. They require treatment that begins in a
few cases before birth (see below) and in many cases immediately after birth. Medical and surgical management
will be important throughout the individual’s life. Their well-being may depend on how fast and how well the
treatment is delivered. For that reason, a woman who knows that her baby will be born with spina bifida should
seek evaluation at a center with expertise in management of spina bifida early in pregnancy and may decide to
have her child in a large medical center where specialized surgery on her newborn can be performed. Her doctor
also may recommend that she have a cesarean section (C-section), rather than deliver vaginally. By delivering
the baby before labor begins, this approach may minimize the amount of damage to the infant’s exposed nerves.
That is why many specialists now recommend a C-section as the safest means of delivering babies with spina
bifida. Because C-sections also tend to be scheduled in advance, this type of birth alerts the pediatric
neurosurgical team so that they can be on site at the appointed time – allowing them to perform surgery shortly
after the baby is born.

The two most important goals in treating myelomeningocele are:

 to prevent infection from developing and affecting the exposed nerves and tissue of the spinal defect
 to protect the exposed nerves and tissue from additional damage
Typically, a child born with spina bifida will have surgery very soon after birth to close the defect and prevent
infection or further damage. Doctors generally begin treatment with antibiotics as soon as possible in order to
avoid infection of the exposed spinal cord. This could lead to encephalitis or meningitis – both very serious, even
fatal, infections. If the birth has taken place elsewhere, the baby should be transferred immediately to a medical
center where surgery can be performed. The operation usually is performed within 36 to 48 hours after birth.
Although prompt surgery is ideal, it may have to be delayed for up to six weeks if the baby’s health is in jeopardy.
During the procedure, a neurosurgeon (a surgeon who specializes in operations on the brain, nerves, and spinal
cord) puts the exposed spinal cord and tissue inside the spinal canal in the baby’s body and then covers the
opening with muscle and skin taken from either side of the back. If the area in question is very large and hard to
close, a plastic surgeon may be called in to accomplish this part of the procedure.

Many infants with spina bifida also have hydrocephalus. Although the word literally means “water on the brain,” it
is, in fact, a build-up of cerebrospinal fluid around and in the ventricular spaces of the brain. In some cases it is
caused by an abnormality of the brain called the Chiari II malformation. With this malformation, one portion of the
brain is displaced from the back of the skull down into the upper neck. That interrupts the normal flow of
cerebrospinal fluid, resulting in an accumulation of fluid, or hydrocephalus. This condition requires surgery, in
which a shunt – or drainage tube – is placed inside the head. It exits the skull and runs under the skin and down
into the chest or abdomen. The shunt relieves pressure on the brain by removing the excess fluid from the brain
and draining it into the abdomen, where it can be eliminated easily. The procedure is a fairly simple one, but it is
essential to prevent swelling that may damage the brain and can be complicated by malfunction of the shunt or
infection of the shunt. A shunt may be needed for an entire lifetime and may need to be replaced as the child

Earlier Intervention (Prenatal Surgery)

Recently, doctors have begun performing fetal surgery to treat myelomeningocele. Fetal surgery, which takes
place before birth, is performed in utero (within the uterus). This kind of surgery involves opening the mother’s
abdomen and uterus and sewing shut the opening over the developing baby’s spinal cord. Some doctors believe
the earlier the defect is corrected, the better it will be for the baby. Apparently, the more time that the spinal cord
is exposed to substances outside the fetus’s body – even those within the uterus – the greater the chance for
damage to the cord and nerves. The hope is that by repairing the defect between the 19th and 25th weeks of
pregnancy, damage to exposed spinal nerves may be averted and the likelihood of paralysis and other problems
may be lessened. Although the procedure cannot bring back lost nerve function, it may prevent additional loss
from happening. However, the surgery is considered experimental and there are risks for the unborn child as well
as for the mother.

Another benefit that doctors have discovered is that the procedure positively affects the way the brain develops in
the uterus. Certain complications – such as the Chiari II malformation with associated hydrocephalus – actually
correct themselves when surgery is performed. This can reduce, and sometimes, eliminate the need for surgery
after birth to implant a shunt to drain excess brain fluid.

One problem is that prenatal surgery greatly increases the risk of premature birth, which poses its own
assortment of risks for the baby. If the surgery causes the baby to be born too early, there can be numerous
complications: organs that are not mature, bleeding in the brain and even death. Risks for the mother include
infection, blood loss, gestational diabetes and weight gain due to prolonged bed rest.

However, follow-up of infants who had prenatal surgery is still not long-term, fetal surgery requires a high level of
training and skill for the surgeon and the medical center where the surgery occurs. In the study looking at the
impact of fetal surgery, certain condition precluded participation (such as uterine abnormalities, maternal obesity,
prior delivery of a premature infant and fetuses with other malformations). It is not known if outcomes from in
utero surgery would be as optimal in these situations.

Subsequent Treatment and Surgeries

Surgery on the newborn with spina bifida may only be the first of many operations that the child will need.
Following the first surgery, the baby should have regular evaluations to assess any developmental issues or
complications that may call for further procedures. For example, surgery may be required to correct any
deformities. Orthopedic (bone- and joint-related) problems may include hip dislocations, curvatures in the back,
ankle and foot deformities, and contracted muscles, tendons, and ligaments that may have to be surgically
released. It is not uncommon for nerve damage to lead to clubfoot and other foot deformities. Placing the affected
foot in a cast for the first several months of the child’s life may work to straighten the foot. When the child reaches
one year of age, corrective surgery may be performed on the foot. Similarly, hip deformities also may be treated

Many children with myelomeningocele develop a complication called progressive tethering, or tethered cord
syndrome. This is a condition in which the spinal cord is bound to the scar from the earlier surgery to close the
opening in the spine. Because it is attached to something that does not move, the spinal cord is not able to grow
in length and keep up with the growth of the child. As a consequence, it stretches abnormally. Tethered cord
syndrome may result in a loss of nerve and muscle function in the legs, feet, bowel, and bladder and cause
permanent damage. In addition to producing deformities of the feet and legs, this syndrome also may produce
incontinence and paralysis. Another surgery to detach the scar tissue and release the end of the spinal cord may
allow the child to regain their prior level functioning and prevent further nerve deterioration.

Children with hydrocephalus will usually need additional surgeries over time to replace the ventricular
cerebrospinal fluid shunt, which can become outgrown or clogged.

Treatment for paralysis usually begins soon after birth. The goal of treatment is to increase mobility, strength and
independence. Working with a physical therapist, parents can learn how to exercise the baby’s legs. They should
start these exercises early on – not long after the initial surgery. In addition to physical therapy, children with
spina bifida should be given physical education or adaptive training in school. Some people with spina bifida
need adaptive equipment such as braces, crutches, or wheelchairs. The location of the malformation on the spine
often indicates the type of devices needed. Children with a defect high up on the spine and more paralysis will
often require a wheelchair, while those with a defect lower on the spine may be able to use crutches or walkers.
When the child is old enough to walk, leg braces may be required. In addition to helping the child walk, they
prevent joint damage. A trunk brace also may help if the child has a curvature of the spine – such as scoliosis (a
sideways or lateral curving of the spine) or kyphosis (forward curving of the spine, causing a hunchback) or both.
However, the curvature may worsen as the child grows. Severe curvature must be corrected surgically.

Impaired nerve function can result in an inability to voluntarily empty the bowel or bladder. Inability to empty the
bladder effectively can result in infections and kidney damage. Management of the bladder is critical since poor
management can lead to kidney failure impacting health and lifespan. To deal with this problem, it may be
necessary to use a urinary catheter several times a day to make sure that the bladder is completely emptied. This
is known as clean intermittent catheterization, or CIC. Inability to effectively empty the bowels results in chronic
severe constipation, most patients with bowel involvement will benefit from a bowel program to stimulate
emptying the rectum regularly. Bowel and bladder problems may require surgery to enhance the function of the
bladder or bowels.

Education regarding latex and other allergies and preventing skin break down in insensate areas should occur
early in the child’s life. Issues to be addressed as the child grows include learning concerns, optimal nutrition
including avoidance of obesity, monitoring for and if needed treatment to halt early puberty and treatment for
adjustment and mental health concerns (including depression and anxiety).

Children with spina bifida should be involved in medical decision making and self-care consistent with their
cognitive development throughout childhood. As children transition to adulthood, higher educational/vocational
guidance is important, planning for transition to adult living and the adult health care system should be completed,
discussion regarding family planning and recurrence risk should occur and guidance and support of sexual
function should be offered.

The Care Team

Every child with severe spina bifida will need extensive and intricate care. This requires the involvement of a
specially trained team of professionals. Included in this care team are pediatricians, neurosurgeons, orthopedic
surgeons, neurologists, endocrinologists, urologists, physical medicine specialists, physical therapists, orthotics
specialists, occupational therapists, psychologists, nurses, dietitians and social workers – among others. Ideally,
the child with spina bifida should receive care at a specialized multidisciplinary spina bifida setting where all the
necessary specialists are and services can be delivered in a coordinated fashion. These clinics exist all over the
U.S., and a list can be obtained from the Spina Bifida Association. These specialists will collaborate with your
primary care clinician. Professionals within the education system will be important to develop a health plan at
school, ensure appropriate physical supports in the school setting including mobility, access to the classroom,
and adapted physical education, provide specialized educational supports when needed, and plan for the
transition to adulthood.

How is spina bifida treated?

Comment on thisShare Your Story

There is no cure for spina bifida. The nerve tissue that is damaged or lost cannot be repaired or replaced,
nor can function be restored to the damaged nerves. Treatment depends on the type and severity of the
disorder. Generally, children with the mild form need no treatment, although some may require surgery as
they grow.

The key early priorities for treating myelomeningocele are to prevent infection from developing through the
exposed nerves and tissue through the spine defect, and to protect the exposed nerves and structures from
additional trauma. Typically, a child born with spina bifida will have surgery to close the defect and
minimize the risk of infection or further trauma within the first few days of life.

Selected medical centers continue to perform fetal surgery for treatment of myelomeningocele through a
National Institutes of Health protocol (Management of Myelomeningocele Study, or MOMS). Fetal surgery
is performed in utero (within the uterus) and involves opening the mother's abdomen and uterus and
sewing shut the abnormal opening over the developing baby's spinal cord. Some doctors believe the earlier
the defect is corrected, the better the baby's outcome. Although the procedure cannot restore lost
neurological function, it may prevent additional losses from occurring.

Originally planned to enroll 200 expectant mothers carrying a child with myelomeningocle, the Management
of Myelomeningocele Study was stopped after the enrollment of 183 women, because of the benefits
demonstrated in the children who underwent prenatal surgery.

There are risks to the fetus as well as to the mother. The major risks to the fetus are those that might occur
if the surgery stimulates premature delivery, such as organ immaturity, brain hemorrhage, and death. Risks
to the mother include infection, blood loss leading to the need for transfusion,gestational diabetes,
and weight gain due to bed rest.

Still, the benefits of fetal surgery are promising -- including less exposure of the vulnerable spinal nerve
tissue and bones to the intrauterine environment, in particular the amniotic fluid, which is considered toxic.
As an added benefit, doctors have discovered that the procedure affects the way the fetal hindbrain
develops in the uterus, allowing certain complications -- such as Chiari II and hydrocephalus -- to correct
themselves, thus, reducing or, in some cases, eliminating the need for surgery to implant a shunt.

Twenty to 50 percent of children with myelomeningocele develop a condition called progressive tethering,
or tethered cord syndrome. A part of the spinal cord becomes fastened to an immovable structure (such as
overlying membranes and vertebrae). This causes the spinal cord to become abnormally stretched and the
vertebrae elongated with growth and movement. This condition can cause change in the muscle function of
the legs, as well as changes in bowel and bladder function. Early surgery on the spinal cord may allow the
child to regain a normal level of functioning and prevent further neurological deterioration.

Some children will need subsequent surgeries to manage problems with the feet, hips, or spine. Individuals
with hydrocephalus generally will require additional surgeries to replace the shunt, which can be outgrown
or become clogged.
Some individuals with spina bifida require assistive mobility devices such as braces, crutches, or
wheelchairs. The location of the malformation on the spine often indicates the type of assistive devices
needed. Children with a defect high on the spine and more extensive paralysis will often require a
wheelchair, while those with a defect lower on the spine may be able to use crutches, bladder
catherizations, leg braces, or walkers. Beginning special exercises for the legs and feet at an early age
may help prepare the child for walking with braces or crutches when he or she is older.

Treatment of bladder and bowel problems typically begins soon after birth, and may include bladder
catheterizations and bowel management regimens.

Medically Reviewed by a Doctor on 8/18/2014

John Mellencamp meets doctor who saved his life

In the early 1950s, most babies born with spina bifida did not live long.

But singer John Mellencamp survived after a pioneering operation.

Last month, after more than 60 years, he finally met the doctor who saved him, reports
CBS News correspondent Anthony Mason.

"I didn't even know I had the operation until some kid, I was about nine or 10, said
'what's that big scar on the back of your neck?' and I went home and asked my parents,"
said Mellencamp. "They said, 'oh, don't worry about it. You had an operation."


"Troubled Man" is the lead single of Mellencamp's new album. His troubles started right
at birth.
Last month, at the Riley Hospital for Children in Indianapolis, Mellencamp finally met
Dr. Robert Heimburger, now 97, the neurosurgeon who performed the life-saving
operation in 1951.

"He remembered it 'cause it was the first one they'd ever done," Mellencamp said.

Spina bifida is a birth defect that causes an opening of the spinal column that can
sometimes allow the spinal cord to grow or extend outside of the body.
For most of his life, the singer knew little about the surgery he had as a newborn.

The hospital still has the records of Mellencamp's procedure, including an image of nine-
day-old John Mellencamp.

"This is the crown of my head right hear," said Mellencamp pointing at the photo. "That's
my ear. That's my neck. So this thing was the size of a man's fist."

This was the first time he saw the growth in the back of his neck.

"And it was just like, why didn't you guys show this to me earlier?" Mellencamp asked.
"'Cause I woulda' seen how lucky I am to even be here."

At 62 years old, he said seeing it for the first time was like "finding out your parents
weren't your parents."

"I mean it was really an epiphany moment for me," Mellencamp said. "I couldn't thank
the guy enough."

Because by rights, he should be dead.

In 1951, John Mellencamp was one of three babies at Riley with spina bifida.

"They did three operations," Mellencamp recalled. "One died on the table. Another girl
lived, I think, 'til she was 14, and then she died. And then me."

Dr. Heimburger's highly risky procedure took 18 hours.

"They basically cut my head off from here to here, laid it open, cut that thing off then put
all the nerves into my spine," Mellencamp said.

And because he was one of the first, the surgery didn't cost much either.

"He charged my parents $1," Mellencamp said. "I was a guinea pig."

The singer remembered walking down a New York street in the 1980's -- the height of his
success -- when he was stopped by an older woman.

"And she said, 'do you know how many angels you have around you?' and I went, 'what?'
she goes, 'you are covered with protection,'" Mellencamp said.

Now looking back, he said, he might just believe it.

Mellencamp and the doctor who saved him 62 years ago sat together for about an hour
last month.

"Basically we talked about faith, 'cause I have very little faith in anything," Mellencamp
said, adding that the doctor "just kept grabbing my hand and saying 'John, you need to
have faith.'"

He said he's trying to take his advice to heart.

"Trying to find faith in something," Mellencamp said.

Mellencamp will start an 80-date tour beginning in January.

His final show in Indianapolis next summer will benefit the Riley Children's Foundation,
which supports the hospital where he had the surgery as an infant.
© 2014 CBS Interactive Inc. All Rights Reserved.

What is Spina Bifida?

Spina Bifida is the most common permanently disabling birth defect in the United States.

What is Spina Bifida?

Spina Bifida literally means “split spine.” Spina Bifida happens when a baby is in the womb and the spinal
column does not close all of the way. Every day, about eight babies born in the United States have Spina Bifida
or a similar birth defect of the brain and spine.

What causes Spina Bifida?

No one knows for sure. Scientists believe that genetic and environmental factors act together to cause the

What are the different types of Spina Bifida?

Occult Spinal Dysraphism (OSD)

Infants with this have a dimple in their lower back. Because most babies with dimples do not have OSD, a
doctor has to check using special tools and tests to be sure. Other signs are red marks, hyperpigmented
patches on the back, tufts of hair or small lumps. In OSD, the spinal cord may not grow the right way and can
cause serious problems as a child grows up. Infants who might have OSD should be seen by a doctor, who
will recommend tests.

Spina Bifida Occulta

It is often called “hidden Spina Bifida” because about 15 percent of healthy people have it and do not know it.
Spina Bifida Occulta usually does not cause harm, and has no visible signs. The spinal cord and nerves are
usually fine. People find out they have it after having an X-ray of their back. It is considered an incidental
finding because the X-Ray is normally done for other reasons. However, in a small group of people with SBO,
pain and neurological symptoms may occur. Tethered cord can be an insidious complication that requires
investigation by a neurosurgeon.

A meningocele causes part of the spinal cord to come through the spine like a sac that is pushed out. Nerve
fluid is in the sac, and there is usually no nerve damage. Individuals with this condition may have minor

Myelomeningocele (Meningomyelocele), also called Spina Bifida Cystica

This is the most severe form of Spina Bifida. It happens when parts of the spinal cord and nerves come
through the open part of the spine. It causes nerve damage and other disabilities. Seventy to ninety percent of
children with this condition also have too much fluid on their brains. This happens because fluid that protects
the brain and spinal cord is unable to drain like it should. The fluid builds up, causing pressure and swelling.
Without treatment, a person’s head grows too big, and may have brain damage. Children who do not have
Spina Bifida can also have this problem, so parents need to check with a doctor.

How is Spina Bifida Treated?

A child with Meningomyelocele usually is operated on within two to three days of birth. This prevents infections
and helps save the spinal cord from more damage.

A child with Meningocele usually has it treated with surgery, and more often than not, the child is not
paralyzed. Most children with this condition grow up fine, but they should be checked by a doctor because they
could have other serious problems, too.

A child with OSD should see a surgeon. Most experts think that surgery is needed early to keep nerves and the
brain from becoming more damaged as the child grows.

Spina Bifida Occulta usually does not need to be treated. '

What can you do to prevent Spina Bifida?
Women who are old enough to have babies should take folic acid before and during the first three months of
pregnancy. Because half of the pregnancies in the United States are unplanned, the Spina Bifida Association
asks women to take a vitamin with 400 mcg (0.4 mg) of folic acid each day during the years of their lives when
they are possibly able to have children.

Women who have a child or sibling with Spina Bifida, have had an affected pregnancy or have Spina Bifida
themselves should take 4000 mcg (4.0 mg) of folic acid for one to three months before and during the first
three months of pregnancy.

What is folic acid?

Folic acid is a vitamin that the body needs to grow and be healthy. It is found in many foods, but the man-
made or synthetic form in pills is actually better absorbed by our bodies.

What conditions are associated with Spina Bifida?

Children and young adults with Spina Bifida can have mental and social problems. They also can have
problems with walking and getting around or going to the bathroom, latex allergy, obesity, skin breakdown,
gastrointestinal disorders, learning disabilities, depression, tendonitis and sexual issues.

What physical limitations exist?

People with Spina Bifida must learn how to get around on their own without help, by using things like crutches,
braces or wheelchairs. With help, it also is possible for children to learn how to go to the bathroom on their
own. Doctors, nurses, teachers and parents should know what a child can and cannot do so they can help the
child (within the limits of safety and health) be independent, play with kids that are not disabled and to take
care of him or herself.

Can Spina Bifida be detected before birth?

Yes. There are three tests*.

1. A blood test during the 16th to 18th weeks of pregnancy. This is called the alpha-fetoprotein (AFP screening
test). This test is higher in about 75–80 % of women who have a fetus with Spina Bifida.
2. An ultrasound of the fetus. This is also called a sonogram and can show signs of Spina Bifida such as the open
3. A test where a small amount of the fluid from the womb is taken through a thin needle. This is called maternal
amniocentesis and can be used to look at protein levels.

*Parents should know that no medical test is perfect, and these tests are not always right.

Can children with Spina Bifida grow up and live full lives?
Yes. With help, children with Spina Bifida can lead full lives. Most do well in school, and many play in sports.
Because of today’s medicine, about 90 percent of babies born with Spina Bifida now live to be adults, about 80
percent have normal intelligence and about 75 percent play sports and do other fun activities.

How is Spina Bifida managed?

As type and level of severity differ among people with Spina Bifida, each person with the condition faces
different challenges and may require different treatments.

The best way to manage Spina Bifida is with a team approach. Members of the team may include
neurosurgeons, urologists, orthopedists, physical and occupational therapists, orthotists, psychologists and
medical social workers.
This information does not constitute medical advice for any individual. As specific cases may vary from the
general information presented here, SBA advises readers to consult a qualified medical or other professional on
an individual basis.
pina bifida is Latin for ‘split spine’. It is one of a class of serious birth defects called neural tube defects (NTD). It is an abnormality of the
folding of the posterior surface of the embryo, which normally forms the vertebral column with its muscles and the spinal cord and the
spinal nerves.

Because of this abnormality, the growing embryo does not develop normally and the spinal cord and nerves are exposed on the surface of
the back, instead of being inside a canal of bone surrounded by muscle. This means that the spinal cord and nerves can be easily damaged.

Almost always, the nerves supplying the parts of the body located below the level of the exposed area do not function properly, leading to a
range of motor and sensory problems, and disturbance of bodily functions, such as bowel and bladder.

The other main type of NTD is anencephaly in which the brain and upper part of the skull are not developed properly. All babies with
anencephaly will either be stillborn or die soon after birth.

Pregnant woman or women planning to become pregnant should take folate regularly to reduce the risk of the fetus developing spina bifida.

Most cases of spina bifida are detected before birth. Spina bifida cannot be cured, but a range of treatments and management options is

Diagnosis of spina bifida

Approximately 90 per cent of cases of spina bifida are detected with an ultrasound scan before 18 weeks of pregnancy. Other
tests used to diagnose spina bifida are maternal blood tests which measure alpha-fetoprotein (AFP), and magnetic resonance
imaging (MRI) scans.

If spina bifida is present, specialist obstetric care and support will be provided. Consultation with an expert paediatrician is
available at both the Royal Children’s Hospital and Monash Children’s Hospital.

In open spina bifida where the cord and nerves are exposed (called spina bifida aperta), it is important to close the defect within
the first few days of life to avoid infection, excess drainage of cerebrospinal fluid and further damage to the spinal cord and

Occasionally, spina bifida is not detected until birth when a large soft lump or skin covered lesion on the baby’s back is noticed.
This lump contains spinal cord, nerves and often fatty tissue (called a lipomeningocoele). The need for surgery in this situation
is not urgent, because the spinal cord and nerves are not exposed.

Symptoms of spina bifida

The effects of spina bifida vary according to the type, location and severity of the condition. It can be located in the neck, chest
or lumbar spinal region. The low thoracic upper lumbar lesions (in the mid-back area) generally produce a greater degree of
paralysis and other debilitating complications.

Problems associated with spina bifida include:

 reduced sensation in the lower body, legs and feet, leading to the possibility of burns and pressure sores
 a degree of paralysis of the lower body and legs, causing walking difficulties or inability to walk
 different degrees and types of urinary incontinence
 different degrees and types of faecal bowel incontinence
 some sexual dysfunction, particularly related to penile erection and ejaculation
 deformities of the spine – commonly scoliosis, where the spine bends into an ‘S’ shape
 cord tethering, where the spinal cord sticks to the area of the original lesion and becomes stretched
 Arnold Chiari malformation – an abnormality of the back of the brain and upper spinal cord which can cause disturbance of breathing,
swallowing, eye movement and fluid flow leading to hydrocephalus
 learning difficulties.
Spina bifida and hydrocephalus

The brain and spinal cord are bathed in and nourished by cerebrospinal fluid. Most people with spina bifida have the Arnold
Chiari malformation and about 80 per cent have abnormality of cerebrospinal fluid flow causing hydrocephalus (Latin for water
on the brain).

Hydrocephalus may be managed early with a shunt if adequate absorption of fluid does not occur. This shunt drains the fluid
away from the brain to parts of the body where no damage can be done. The brain looks structurally different in people with
spina bifida, but it can function normally. It is not uncommon, however, to have some brain function disability.

Causes of spina bifida

Neural tube defects (both anencephaly and spina bifida) are caused by genetic and environmental factors that are not yet fully
understood. The risk of these conditions is approximately one in every 800 pregnancies. Inadequate intake of folate by the
mother in early pregnancy is a significant factor in the occurrence of spina bifida.

The number of babies born with spina bifida in Australia has dropped dramatically in recent years due to greater awareness
and intake of folate by women prior to and in the early stages of pregnancy.

Improved ultrasound and other tests that detect spina bifida and provide the choice of pregnancy termination have also reduced
its occurrence.

High-risk groups

People whose children are at high risk of spina bifida include those who have a:

 previous child with a neural tube defect (NTD)

 family history of NTDs on one or both sides
 close relative with an NTD
 close relative with a child with an NTD.
The children of women taking some anti-epileptic medications (such as valproic acid) also have an increased risk of spina bifida.

Folate can prevent spina bifida

Folate (folic acid) is a B-group vitamin. The recommended dose of folate, taken daily one month before conception and each
day during the first three months of pregnancy, can prevent most neural tube defects.

The National Health and Medical Research Council recommends that all women planning a pregnancy or likely to become
pregnant should take 0.5 mg of folic acid daily. People in high-risk groups should take a higher dose.

Good sources of folate include:

 folate supplements
 foods naturally rich in folate – asparagus, spinach, oranges, bananas and legumes
 foods fortified with folate, such as some breakfast cereals and bread. Look for the ANZFA Folate Enriched logo on the packet.
Treatment for spina bifida

There is no cure for spina bifida. Treatment options include:

 Surgery – may be used to close the lesion and reduce the risk of infection.
 Shunt insertion – hydrocephalus is treated with the insertion of a tube, called a shunt, into the ventricles in the brain where the spinal
fluid is produced, allowing excess cerebrospinal fluid to drain out of the brain via another tube into the abdomen or the heart.
 Orthopaedic surgery – children with spina bifida usually undergo operations on their legs and feet to improve their mobility.
 Mobility aids – walking aids or wheelchairs are commonly used.
 Diet and enemas – are used to manage faecal incontinence.
 Bladder surgery – can increase bladder size and tighten muscles.
 Self-catheterisation and continence pads – may be required to manage urinary incontinence. Sometimes faecal or urinary bags are
 Regular monitoring of kidney, bladder, shunt and spine functions.
Where to get help
 Your doctor
 Spina Bifida Clinic at the Royal Children’s Hospital Tel. (03) 9345 5898
 Fetal Diagnostic Clinic Monash Health Tel. (03) 9594 2343
 Fetal Management Unit Royal Women’s Hospital Tel. (03) 8345 2000
Things to remember
 Spina bifida refers to a range of birth defects that affect the spinal cord.
 In spina bifida some vertebrae of the spine aren’t closed, leaving the spinal cord nerves exposed and damaged.
 The recommended dose of folate, taken daily one month before conception and during the first three months of pregnancy, will
greatly reduce your chances of having a child with a neural tube defect.
You might also be interested in:
 Birth defects.
 Folate for women.
 Nervous system.

Babies in the womb helped by spina bifida

Estela Villanueva-Whitman, Special to the Register11:01 p.m. CDT September 7, 2014
(Photo: special to the register)

Chelsy and Jeff King knew little about spina bifida when an ultrasound showed signs of the
condition midway through pregnancy. They soon learned that the defect could be repaired before
their baby was even born.

The routine ultrasound at 19 weeks of pregnancy detected an opening in the baby’s spine.
Unsure whether the baby would even survive, Chelsy went online to research spina bifida and
learned about a surgical procedure that could be performed in utero.

“After we got the diagnosis, I did see it online. I thought, we’re in Iowa, that’s not a possibility,”
said Chelsy, 29, of Mason City.

The couple were referred to Dr. Neil Mandsager at Perinatal Center of Iowa, based in Des Moines,
and spoke with him via conference call the very next day. The first thing he mentioned was that
Chelsy was a candidate for the procedure. His confidence in the procedure made them realize it
wasn’t the end of the world, she said.

However, the Kings would need to travel to Vanderbilt University Medical Center in Nashville,
Tenn., one of a handful of medical facilities offering the fetal surgery. Experts there pioneered the
surgery in 1997 and co-led a landmark study showing that babies who have surgery to repair
spina bifida while still in the womb have better outcomes than babies who have surgery after birth.

Mandsager began seeing Chelsy in Des Moines a few weeks later, at the beginning of May.
Through an additional ultrasound and testing, he confirmed the neural tube defect and the
location of the opening.
Because treatment options are based in part on whether the condition is isolated to the spine, he
also checked for any other malformations. A baby with a chromosomal abnormality that includes
such a spinal defect is not a candidate for intrauterine surgery, he said.

“We confirmed that this was an isolated defect. The baby otherwise looked perfectly normal,” he

A newer option for parents, the theory behind fetal surgery is to treat the defect during pregnancy,
before damage occurs to the exposed nerve tissue, Mandsager said. Previously, parents needed
to wait until after a baby was born for surgical closure. That surgery continues to be offered at
Mercy Medical Center in Des Moines.

Spina bifida is the most common permanently disabling birth defect in the U.S. and occurs when
the spinal column fails to close completely. Mandsager said he sees several such cases a year.
Estimates place the rate of spina bifida at 3.5 per 10,000 births nationwide. In Iowa, where about
30,000 births occur, about 10 babies may be born annually with such a defect.

Although increased folic acid intake by mothers is recommended to prevent neural tube defects,
Chelsy had been taking prenatal vitamins and received regular care. She was told the condition
occurs in the first 28 days of pregnancy, but the exact cause is unknown. Genetic and
environmental factors may play a role.

Mandsager said parents he’s counseled have chosen various options following diagnosis. One
patient was not a candidate for the intrauterine option due to a prior history of early labor resulting
from a placental problem. Another family opted for surgery after delivery because of the
challenges of traveling out of state during pregnancy.

The decision weighed heavily on the Kings. Chelsy would need to take time off work, but faced
the bigger burden of leaving behind the family’s four older children.

“If we didn’t do it, we would forever question ‘what if we would have done it,’ ” she said.

With family watching the kids at home, the Kings were able to travel to Nashville, where they
stayed for three weeks for testing and hospitalization. Prior to surgery, the couple also saw how
well another child was doing after undergoing the surgery there a year ago. That clinched their

Chelsy’s surgery on May 20 was a success, preventing any future damage. Upon returning to
Iowa, she saw Mandsager weekly due to the risk for preterm labor and was later able to return to
her job as an accountant with reduced hours.

Because the surgical repair is performed through the uterus on the baby and requires an incision
on the uterine wall, the baby must be delivered through Cesarean section, Mandsager said.
Chelsy was scheduled for a C-section at 37 weeks, but delivered her son, Sutter, a week early at
Mercy Medical Center in Des Moines. Weighing 5 pounds 9 ounces, he arrived on Aug. 15.

Shortly after birth, Sutter needed an additional surgery to close a small leak of cerebral spinal
fluid from the previous surgical repair. But the procedure, performed by Dr. John Gachiani,
pediatric neurosurgeon at Mercy, was not nearly as involved as it would have been without the
initial fetal surgery, Mandsager said.
Physicians will closely monitor Sutter to determine what impact the defect may have on his
development and the Kings will return to Des Moines every few weeks for scans to watch for fluid
buildup. So far, Sutter has had none. Other babies need shunts placed in the brain to drain
excess fluid, and the shunts may need to be replaced as the child grows.

“Without having the fluid buildup, they think he’ll be fine as far as development,” Chelsy said.

Sutter appears to have good leg strength so far and has been feeding and growing well, she said,
acknowledging that there are different severities of spina bifida. Based on the location of the
opening, providers in Nashville believed her baby would be able to walk regardless of whether
surgery was performed.

The biggest selling point to the Kings, however, was the reduction in the need for a shunt. The
Kings are the first to deliver a baby at Mercy who had undergone fetal surgery for spina bifida.
The other family whom Mandsager followed delivered elsewhere about a year ago, so he has not
yet been able to gauge the benefit of the surgery. Both mothers were able to come close to term
and didn’t experience any preterm labor difficulties.

“From that standpoint they did well. But we don’t know yet how well the babies are going to do,”
he said.

Other parents receiving news of a baby with spina bifida should keep an open mind and not look
back after making their decision, Chelsy said.

“I would suggest trying to learn as much about it as you can. Our original thought was we were
going to lose the baby. It’s easy to jump to that conclusion. It’s how you look at it. You can make it
through it,” she said. “Everything happens for a reason and it all worked out for us.”

The human nervous system develops from a small, specialized plate of cells along the back of
an embryo (called the neural plate). Early in development, the edges of this plate begin to
curl up toward each other, creating the neural tube—a narrow sheath that closes to form the
brain and spinal cord of the embryo. As development progresses, the top of the tube becomes
the brain and the remainder becomes the spinal cord. This process is usually complete by the
28th day of pregnancy. But if problems occur during this process, the result can be brain
disorders called neural tube defects, including spina bifida.
What is spina bifida?

Spina bifida, which literally means “cleft spine,” is characterized by the incomplete
development of the brain, spinal cord, and/or meninges (the protective covering around the
brain and spinal cord). It is the most common neural tube defect in the United States—
affecting 1,500 to 2,000 of the more than 4 million babies born in the country each year. An
estimated 166,000 individuals with spina bifida live in the United States.
What are the different types of spina bifida?

There are four types of spina bifida: occulta, closed neural tube defects, meningocele, and

Occulta is the mildest and most common form in which one or more vertebrae are
malformed. The name “occulta,” which means “hidden,” indicates that a layer of skin covers
the malformation, or opening in the vertebrae. This form of spina bifida, present in 10-20
percent of the general population, rarely causes disability or symptoms.

Closed neural tube defects make up the second type of spina bifida. This form consists of a
diverse group of defects in which the spinal cord is marked by malformations of fat, bone, or
meninges. In most instances there are few or no symptoms; in others the malformation
causes incomplete paralysis with urinary and bowel dysfunction.

In the third type, meningocele, spinal fluid and meninges protrude through an abnormal
vertebral opening; the malformation contains no neural elements and may or may not be
covered by a layer of skin. Some individuals with meningocele may have few or no
symptoms while others may experience such symptoms as complete paralysis with bladder
and bowel dysfunction.

Myelomeningocele, the fourth form, is the most severe and occurs when the spinal
cord/neural elements are exposed through the opening in the spine, resulting in partial or
complete paralysis of the parts of the body below the spinal opening. The impairment may
be so severe that the affected individual is unable to walk and may have bladder and bowel

What causes spina bifida?

The exact cause of spina bifida remains a mystery. No one knows what disrupts complete
closure of the neural tube, causing this malformation to develop. Scientists suspect the
factors that cause spina bifida are multiple: genetic, nutritional, and environmental factors all
play a role. Research studies indicate that insufficient intake of folic acid—a common B
vitamin—in the mother’s diet is a key factor in causing spina bifida and other neural tube
defects. Prenatal vitamins typically contain folic acid as well as other vitamins. (See “Can
the disorder be prevented?” for more information on folic acid.)

What are the signs and symptoms of spina bifida?

The symptoms of spina bifida vary from person to person, depending on the type and level of
involvement. Closed neural tube defects are often recognized early in life due to an
abnormal tuft or clump of hair or a small dimple or birthmark on the skin at the site of the
spinal malformation.

Meningocele and myelomeningocele generally involve a fluid-filled sac—visible on the

back—protruding from the spinal canal. In meningocele, the sac may be covered by a thin
layer of skin. In most cases of myelomeningocele, there is no layer of skin covering the sac
and an area of abnormally developed spinal cord tissue is usually exposed.

What are the complications of spina bifida?

Complications of spina bifida can range from minor physical problems with little functional
impairment to severe physical and mental disabilities. It is important to note, however, that
most people with spina bifida are of normal intelligence. Spina bifida’s impact is determined
by the size and location of the malformation, whether it covered, and which spinal nerves are
involved. All nerves located below the malformation are affected to some degree. Therefore,
the higher the malformation occurs on the back, the greater the amount of nerve damage and
loss of muscle function and sensation.

In addition to abnormal sensation and paralysis, another neurological complication associated

with spina bifida is Chiari II malformation—a condition common in children with
myelomeningocele—in which the brain stem and the cerebellum (hindbrain) protrude
downward into the spinal canal or neck area. This condition can lead to compression of the
spinal cord and cause a variety of symptoms including difficulties with feeding, swallowing,
and breathing control; choking; and changes in upper arm function (stiffness, weakness).

Chiari II malformation may also result in a blockage of cerebrospinal fluid, causing a

condition called hydrocephalus, which is an abnormal buildup of cerebrospinal fluid in and
around the brain. Cerebrospinal fluid is a clear liquid that surrounds the brain and spinal
cord. The buildup of fluid puts damaging pressure on these structures. Hydrocephalus is
commonly treated by surgically implanting a shunt—a hollow tube—in the brain to drain the
excess fluid into the abdomen.

Some newborns with myelomeningocele may develop meningitis, an infection in the

meninges. Meningitis may cause brain injury and can be life-threatening.

Children with both myelomeningocele and hydrocephalus may have learning disabilities,
including difficulty paying attention, problems with language and reading comprehension,
and trouble learning math.

Additional problems such as latex allergies, skin problems, gastrointestinal conditions, and
depression may occur as children with spina bifida get older.

How is it diagnosed?

In most cases, spina bifida is diagnosed prenatally, or before birth. However, some mild
cases may go unnoticed until after birth (postnatal). Very mild forms (spinal bifida occulta),
in which there are no symptoms, may never be detected.

Prenatal Diagnosis

The most common screening methods used to look for spina bifida during pregnancy are
second trimester (16-18 weeks of gestation) maternal serum alpha fetoprotein (MSAFP)
screening and fetal ultrasound. The MSAFP screen measures the level of a protein
called alpha-fetoprotein (AFP), which is made naturally by the fetus and placenta. During
pregnancy, a small amount of AFP normally crosses the placenta and enters the mother’s
bloodstream. If abnormally high levels of this protein appear in the mother’s bloodstream, it
may indicate that the fetus has an “open” (not skin-covered) neural tube defect. The MSAFP
test, however, is not specific for spina bifida and requires correct gestational dates to be most
accurate; it cannot definitively determine that there is a problem with the fetus. If a high
level of AFP is detected, the doctor may request additional testing, such as an ultrasound or
amniocentesis to help determine the cause.

The second trimester MSAFP screen described above may be performed alone or as part of a
larger, multiple-marker screen. Multiple-marker screens look not only for neural tube defects,
but also for other birth defects, including Down syndrome and other chromosomal
abnormalities. First trimester screens for chromosomal abnormalities also exist but signs of
spina bifida are not evident until the second trimester when the MSAFP screening is

Amniocentesis—an exam in which the doctor removes samples of fluid from the amniotic sac
that surrounds the fetus—may also be used to diagnose spina bifida. Although amniocentesis
cannot reveal the severity of spina bifida, finding high levels of AFP and other proteins may
indicate that the disorder is present.

Postnatal Diagnosis

Mild cases of spina bifida (occulta, closed) not diagnosed during prenatal testing may be
detected postnatally by plain film X-ray examination. Individuals with the more severe forms
of spina bifida often have muscle weakness in their feet, hips, and legs that result in
deformities that may be present at birth. Doctors may use magnetic resonance imaging (MRI)
or a computed tomography (CT) scan to get a clearer view of the spinal cord and
vertebrae. If hydrocephalus is suspected, the doctor may request a CT scan and/or X-ray of
the skull to look for extra cerebrospinal fluid inside the brain.

How is spina bifida treated?

There is no cure for spina bifida. The nerve tissue that is damaged cannot be repaired, nor
can function be restored to the damaged nerves. Treatment depends on the type and severity
of the disorder. Generally, children with the mildest form need no treatment, although some
may require surgery as they grow.

The key early priorities for treating myelomeningocele are to prevent infection from
developing in the exposed nerves and tissue through the spinal defect, and to protect the
exposed nerves and structures from additional trauma. Typically, a child born with spina
bifida will have surgery to close the defect and minimize the risk of infection or further
trauma within the first few days of life.

Selected medical centers continue to perform fetal surgery for treatment of

myelomeningocele through a National Institutes of Health experimental protocol
(Management of Myelomeningocele Study, or MOMS). Fetal surgery is performed in
utero (within the uterus) and involves opening the mother’s abdomen and uterus and sewing
shut the abnormal opening over the developing baby’s spinal cord. Some doctors believe the
earlier the defect is corrected, the better the baby’s outcome. Although the procedure cannot
restore lost neurological function, it may prevent additional loss from occurring.

The surgery is considered experimental and there are risks to the fetus as well as to the
mother. The major risks to the fetus are those that might occur if the surgery stimulates
premature delivery, such as organ immaturity, brain hemorrhage, and death. Risks to the
mother include infection, blood loss leading to the need for transfusion, gestational diabetes,
and weight gain due to bed rest.

Still, the benefits of fetal surgery are promising, and include less exposure of the vulnerable
spinal nerve tissue and bone to the intrauterine environment, in particular the amniotic fluid,
which is considered toxic. As an added benefit, doctors have discovered that the procedure
may affect the way the fetal hindbrain develops in utero, decreasing the severity of certain
complications—such as Chiari II and hydrocephalus—and in some cases, eliminating the
need for surgery to implant a shunt.

Twenty to 50 percent of children with myelomeningocele develop a condition called

progressive tethering, or tethered cord syndrome; their spinal cord become fastened to an
immovable structure—such as overlying membranes and vertebrae—causing the spinal cord
to become abnormally stretched with the child’s growth. This condition can cause loss of
muscle function to the legs, as well as changes in bowel and bladder function. Early surgery
on a tethered spinal cord may allow the child to return to their baseline level of functioning
and prevent further neurological deterioration.

Some children will need subsequent surgeries to manage problems with the feet, hips, or
spine. Individuals with hydrocephalus generally will require additional surgeries to replace
the shunt, which can be outgrown or become clogged or infected.

Some individuals with spina bifida require assistive devices such as braces, crutches, or
wheelchairs. The location of the malformation on the spine often indicates the type of
assistive devices needed. Children with a defect high on the spine will have more extensive
paralysis and will often require a wheelchair, while those with a defect lower on the spine
may be able to use crutches, leg braces, or walkers. Beginning special exercises for the legs
and feet at an early age may help prepare the child for walking with those braces or crutches
when he or she is older.

Treatment for bladder and bowel problems typically begins soon after birth, and may include
bladder catheterizations and bowel management regimens.

Can the disorder be prevented?

Folic acid, also called folate, is an important vitamin in the development of a healthy
fetus. Although taking this vitamin cannot guarantee having a healthy baby, it can
help. Recent studies have shown that by adding folic acid to their diets, women of
childbearing age significantly reduce the risk of having a child with a neural tube defect, such
as spina bifida. Therefore, it is recommended that all women of childbearing age consume
400 micrograms of folic acid daily. Foods high in folic acid include dark green vegetables,
egg yolks, and some fruits. Many foods—such as some breakfast cereals, enriched breads,
flours, pastas, rice, and other grain products—are now fortified with folic acid. Many
multivitamins contain the recommended dosage of folic acid as well.
Women who already have a child with spina bifida, who have spina bifida themselves, or
who have already had a pregnancy affected by any neural tube defect are at greater risk of
having another child with spina bifida or another neural tube defect; 5-10 times the risk to the
general population. These women may benefit from taking a higher daily dose of folic acid
before they consider becoming pregnant.

What is the prognosis?

Children with spina bifida can lead active lives. Prognosis, activity, and participation depend
on the number and severity of abnormalities and associated personal and environmental
factors. Most children with the disorder have normal intelligence and can walk, often with
assistive devices. If learning problems develop, appropriate educational interventions are

What research is being done?

Within the Federal Government, the National Institute of Neurological Disorders and Stroke
(NINDS), a part of the National Institutes of Health (NIH), is the Federal Government’s
leading supporter of research on brain and nervous system disorders. NINDS conducts
research in its laboratories at the NIH in Bethesda, Maryland, and supports research through
grants to major medical institutions across the country.

In one study supported by NINDS, scientists are looking at the hereditary basis of neural tube
defects. The goal of this research is to find the genetic factors that make some children more
susceptible to neural tube defects than others. Lessons learned from this research will fill in
gaps of knowledge about the causes of neural tube defects and may lead to ways to prevent
these disorders. These researchers are also studying gene expression during the process of
neural tube closure, which will provide information on the human nervous system during

In addition, NINDS-supported scientists are working to identify, characterize, and evaluate

genes for neural tube defects. The goal is to understand the genetics of neural tube closure,
and to develop information that will translate into improved clinical care, treatment, and
genetic counseling.

Other scientists are studying genetic risk factors for spina bifida, especially those that
diminish or lessen the function of folic acid in the mother during pregnancy, possibly leading
to spina bifida in the fetus. This study will shed light on how folic acid prevents spina bifida
and may lead to improved forms of folate supplements.

NINDS also supports and conducts a wide range of basic research studies to understand how
the brain and nervous system develop. These studies contribute to a greater understanding of
neural tube defects, such as spina bifida, and offer hope for new avenues of treatment for and
prevention of these disorders as well as other birth defects.

Another component of the NIH, the Eunice Kennedy Shriver National Institute of Child
Health and Human Development (NICHD), is conducting a large 5-year study to determine if
fetal surgery to correct spina bifida in the womb is safer and more effective than the
traditional surgery—which takes place a few days after birth. Researchers hope this study,
called the Management of Myelomeningocele Study or MOMS, will better establish which
procedure, prenatal or postnatal, is best for the baby.

Lack of vitamins and minerals in the diet is detrimental to the physical and mental potential of up to one-third of the
world’s population, UNICEF and the Micronutrient Initiative reported in 2004.

The World Health Organization recently endorsed guidelines for fortifying flour with iron, folic acid, zinc, vitamin B12
and vitamin A. Iron and folic acid are the two most commonly added nutrients, and these can be added to flour at a
cost of about 10 US cents per person per year.

Fortifying flour with iron would help prevent a significant portion of the mental impairment that occurs among young
children who do not consume an adequate level of iron. It would also increase adult productivity – thus raising
incomes – and help reduce anaemia, which contributes to maternal mortality.

Women need folic acid during the first days of pregnancy to prevent neural tube defects, such as spina bifida that
causes child death and a large proportion of child disabilities. Fortification is a particularly effective strategy because
the alternative strategy of supplementation often only starts after women know they are pregnant – which is usually
too late.

According to the FFI, an adolescent girl consuming 150 grams of fortified flour daily – about two slices of bread or two
packs of instant noodles – gets about 50 per cent of her daily needs for iron and 84 per cent of daily needs for folic

A Canada-based economist involved in nutrition issues, Sue Horton believes that a combination of vitamin A, iron, zinc,
folic acid and iodine in the majority of diets in sub-Saharan Africa and much of Asia would result in an estimated US$5
billion in health-care savings and future earnings, and save around 3.5 million lives.

The few cost-benefit analyses available lean considerably in favour of fortification. Researchers in Chile, for instance,
found that every $1 spent to fortify flour with folic acid saved $11.80 in medical costs; in South Africa it saved $46
and in the US it was $40 (due to the higher costs of medical care in those two countries).

© UNICEF Indonesia

Countries that fortify

Globally, legislation in 57 countries requires the fortifying of flour with iron and/or folic acid. Some countries go further,
requiring additional vitamins and nutrients, such as vitamins A and B, zinc and thiamine. Such legislation gives nearly
2 billion people access to fortified wheat and/or maize flour.

However, only five countries that make it mandatory are in the Asia–Pacific region: Australia, Fiji, Indonesia, New
Zealand and Philippines. Malaysia may soon join them. Mongolia voluntarily fortifies and one miller in Viet Nam
fortifies on a voluntary basis. Yet, flour fortification is standard practice throughout the Americas and in about a third
of the flour milled in African countries.
The Indonesian government was the first country in East Asia (1998) to see the value in fortifying. A year after the
onset of the 1990s’ Asian financial crisis, the “nutrition status of women and children deteriorated significantly”,
reported Nina Sardjunani, Indonesia’s Deputy Chairperson for Human Resources and Cultural Affairs within the
National Development Planning Agency, during a gathering of FFI’s East Asia Leaders Group in February 2009.

According to Sardjunani, Indonesia learned that a government response to a financial crisis – and a way of buffering
people from it – is to fortify food. “It is our duty as government and private sector alike to ensure that whatever food
[people] buy should be nutritionally adequate,” Sardjunani said.

The need for legislation

FFI has learned that millers typically will not fortify on their own initiative, despite the low cost of the process. There is
no marketing value to fortifying, explains Greg Harvey, CEO for InterFlour Group, one of the region’s largest millers
and a private-sector partner with FFI. “To ensure it works,” he says, “it has to be mandatory.”

According to Singh, UNICEF’s Regional Director who co-chairs FFI’s East Asia Leaders Group with Harvey, the
collaboration with the private sector has been crucial.

“It really makes a difference. While it’s the prerogative of governments to decide whether to make fortification
mandatory, ultimately they have to have industry on their side and industry has to see there is a very sound business
case for it,” she said. “There are marginal costs and they are contributing to the social good within a country.”

InterFlour is a good example. The company operates a mill in Indonesia where fortification is mandatory, but
voluntarily restores the lost iron and folic acid to its milling process in Viet Nam. “I feel on a long-term basis it’s good
business practice to serve our market – for women and children to get the maximum nutritional benefit from our
product,” Harvey says of InterFlour’s unique commitment to fortify.

Cost to Fortify

Recurring costs of buying

quality premix with iron,

folic acid and other B

vitamins is between US

$1.50-3 per metric ton of


The per person, per year

cost to fortify wheat flour

may be as little as eight

to ten cents.

One metric ton of flour is about 2,200

pounds, as pictured here. Global Best Practices

To plan a flour fortification program, consider:

• Local culture and cereal consumption

• Nutritional needs/health burden

• Industry analysis

• Creation of a multi-sector national fortification alliance

• Legislation:

• make fortification mandatory

• include fortification in the QA/QC processes

• adopt an industry standard

Photo copyright: David Snyder / CDC Foundation Reasons for Mandatory Legislation

• Equalizes costs for millers

• Sets appropriate standards

– Best iron compound

– Levels of other vitamins and


• Can be more easily


• Provides more equitable

access to foods made with

fortified flour

• Reduces need for expensive

marketing campaigns

Tests and diagnosis

By Mayo Clinic Staff
Appointments & care

At Mayo Clinic, we take the time to listen, to find answers and to provide you the best


Learn more. Request an appointment.



If you're pregnant, you'll be offered prenatal screening tests to check for spina bifida and
other birth defects. The tests aren't perfect. Most mothers who have positive blood tests
have normal babies.

Also, even if the results are negative, there's still a small chance that spina bifida is present.
Talk to your doctor about prenatal testing, its risks and how you might handle the results.

Blood tests
Your doctor will most likely check for spina bifida by first performing the following:

 Maternal serum alpha-fetoprotein (MSAFP) test. A common test used to check for
myelomeningocele is the maternal serum alpha-fetoprotein (MSAFP) test. To perform
this test, your doctor draws a blood sample and sends it to a laboratory, where it's tested
for alpha-fetoprotein (AFP) — a protein that's produced by the baby.

It's normal for a small amount of AFP to cross the placenta and enter the mother's
bloodstream, but abnormally high levels of AFP suggest that the baby has a neural tube
defect, most commonly spina bifida or anencephaly, a condition characterized by an
underdeveloped brain and an incomplete skull.
Some spina bifida cases don't produce a high level of AFP. On the other hand, when a
high level of AFP is found, a neural tube defect is present only a small percentage of the

Varying levels of AFP can be caused by other factors — including a miscalculation in

fetal age or multiple babies — so your doctor may order a follow-up blood test for
confirmation. If the results are still high, you'll need further evaluation, including an
ultrasound examination.

 Other blood tests. Your doctor may perform the MSAFP test with two or three other
blood tests, which may detect other hormones, such as human chorionic gonadotropin
(HCG), inhibin A and estriol.

Depending on the number of tests, the combination is called a triple screen or quadruple
screen (quad screen). These tests are commonly done with the MSAFP test, but their
objective is to screen for trisomy 21 (Down syndrome), not neural tube defects.

Many obstetricians rely on ultrasonography to screen for spina bifida. If blood tests indicate
high AFP levels, your doctor will suggest an ultrasound exam to help determine why. The
most common ultrasound exams bounce high-frequency sound waves off tissues in your
body to form black-and-white images on a video monitor.

The information these images provide can help establish whether there's more than one
baby and can help confirm gestational age, two factors that can affect AFP levels. An
advanced ultrasound can also detect signs of spina bifida, such as an open spine or
particular features in your baby's brain that indicate spina bifida.

In expert hands, ultrasound today is quite effective in detecting spina bifida and assessing its
severity. Ultrasound is safe for both mother and baby.

If a blood test shows high levels of AFP in your blood but the ultrasound is normal, your
doctor may offer amniocentesis. During amniocentesis, your doctor uses a needle to remove
a sample of fluid from the amniotic sac that surrounds the baby.

An analysis indicates the level of AFP present in the amniotic fluid. A small amount of AFP is
normally found in amniotic fluid.

However, when an open neural tube defect is present, the amniotic fluid contains an
elevated amount of AFP because the skin surrounding the baby's spine is gone and AFP
leaks into the amniotic sac.

Discuss the risks of this test, including a slight risk of loss of the pregnancy, with your doctor.
Country Profile - Malaysia
Leaflet | Atlas CCSA OpenStreetMap

Print Country Profile

Region: Asia

Population: 28,401,000

Percent of population in urban areas: 72

Population figures from the United Nation Population Division

Grain Practices (metric tons)

Domestic Grain Grain Flour Flour

Production Imports Exports Imports Exports

Wheat 0 1,099,296 6,932 216,406 39,178

Maize 47,602 3,076,957 2,084 61,777 5,268

Rice 2,464,830 930,583 413 0 0

Source: Food and Agriculture Organization (FAO) of the United Nations using 2010 data, the last year with all data available.
Notes: Rice production is paddy rice. Import and export figures include husked and milled rice. Data are from 2010, the most
recent year for which all data are available.

Legislation, Grain Availability, and Milling Industry

Number of % flour/rice
Available in food supply
Legislation industrial mills (>20 produced in
metric tons/day) industrial mills

Wheat Planning 143 100

Maize 22

Rice 220

Source: FFI database. See how we got this information.

Nutrients Added (parts per million)

Iron Type of Iron Folic Acid Zinc B12 Vitamin A




Source: FFI database. See how we got this information.

Neural Tube Defects

Neural tube defects per 10,000 births1


Source: Boo, NY, Cheah, IGS, Thong, MK. Neural tube defects in Malaysia: Data from the Malaysian National Neonatal
Registry. Journal of Tropical Pediatrics 59(5):338-342, 2013.
Note: This figure may not include pregnancy loss or terminations of pregnancies due to pre-natal diagnosis of a neural tube
defect. Countries that fortify flour with folic acid often report a neural tube defect birth prevalence of less than 10 per 10,000.

To assess the feasibility of fortifying flour with folic acid as a strategy to prevent neural
tube defects in Malaysia, a country where the staple food is rice, we used 24-hour recall
to study all cereal flour intake in women of reproductive age. Eighty-eight percent took
at least a half portion of cereal flour and 85% took at least one whole portion. Vitamin
supplements were taken by 36% but few knew whether the supplement contained folic
acid. Cereal flour consumption is frequent and folic acid fortification of flour is feasible.
Subgroups of the population not consuming flour need to be identified.


 Español (Spanish)

Spina bifida is a condition that affects the spine and is usually apparent at birth. It is a type of neural tube
defect (NTD).

Spina bifida can happen anywhere along the spine if the neural tube does not close all the way. The
backbone that protects the spinal cord does not form and close as it should. This often results in damage to
the spinal cord and nerves.

Spina bifida might cause physical and intelectual disabilities that range from mild to severe. The severity
depends on:

 The size and location of the opening in the spine.

 Whether part of the spinal cord and nerves are affected.

Types of Spina Bifida

The three most common types of spina bifida are:

Myelomeningocele (sounds like: my-low-ma-nin-jo-seal; hear how “myelomeningocele” sounds)

When people talk about spina bifida, most often they are referring to myelomeningocele.
Myelomeningocele is the most serious type of spina bifida. With this condition, a sac of fluid comes through
an opening in the baby’s back. Part of the spinal cord and nerves are in this sac and are damaged. This
type of spina bifida causes moderate to severe disabilities, such as problems affecting how the person
goes to the bathroom, loss of feeling in the person’s legs or feet, and not being able to move the legs.

Meningocele (sounds like: ma-nin-jo-seal; hear how “meningocele” sounds)

Another type of spina bifida is meningocele. With meningocele a sac of fluid comes through an opening in
the baby’s back. But, the spinal cord is not in this sac. There is usually little or no nerve damage. This type
of spina bifida can cause minor disabilities.

Spina Bifida Occulta (sounds like: o-cult-tuh; hear how “occulta” sounds)
Spina bifida occulta is the mildest type of spina bifida. It is sometimes called “hidden” spina bifida. With it,
there is a small gap in the spine, but no opening or sac on the back. The spinal cord and the nerves usually
are normal. Many times, spina bifida occulta is not discovered until late childhood or adulthood. This type of
spina bifida usually does not cause any disabilities.


Spina bifida can be diagnosed during pregnancy or after the baby is born. Spina bifida occulta might not be
diagnosed until late childhood or adulthood, or might never be diagnosed.

During Pregnancy

During pregnancy there are screening tests (prenatal tests) to check for spina bifida and other birth defects.
Talk with your doctor about any questions or concerns you have about this prenatal testing.

 AFP - AFP stands for alpha-fetoprotein (sounds like: al-fa–fee-toe-pro-teen), a protein the unborn baby
produces. This is a simple blood test that measures how much AFP has passed into the mother’s
bloodstream from the baby. A high level of AFP might mean that the baby has spina bifida. An AFP test
might be part of a test called the “triple screen” that looks for neural tube defects and other issues.
 Ultrasound - An ultrasound is a type of picture of the baby. In some cases, the doctor can see if the
baby has spina bifida or find other reasons that there might be a high level of AFP. Frequently, spina
bifida can be seen with this test.
 Amniocentesis (sounds like: am-knee-oh-sin-te-sus; hear how “amniocentesis” sounds) - For this test,
the doctor takes a small sample of the amniotic fluid surrounding the baby in the womb. Higher than
average levels of AFP in the fluid might mean that the baby has spina bifida.

After the Baby Is Born

In some cases, spina bifida might not be diagnosed until after the baby is born.

Sometimes there is a hairy patch of skin or dimple on the baby’s back that is first seen after the baby is
born. A doctor can use an image scan, such as an, X-ray, MRI, or CT, to get a clearer view of the baby’s
spine and the bones in the back.

Sometimes spina bifida is not diagnosed until after the baby is born because the mother did not receive
prenatal care or an ultrasound did not show clear pictures of the affected part of the spine.


Not all people born with spina bifida have the same needs, so treatment will be different for each person.
Some people have problems that are more serious than others. People
with myelomeningocele and meningocele will need more treatments than people with spina bifida occulta.

To learn more about treatments, visit the Treatments page.

Causes and Prevention

We do not know all of the causes of spina bifida. The role that factors, such as genes and the environment,
play in causing spina bifida need to be studied further. However, we do know that there are ways before
and during pregnancy for women to reduce the risk of having a baby with spina bifida.

If you are pregnant or could get pregnant, use the following tips to help prevent your baby from having
spina bifida:

 Take 400 micrograms (mcg) of folic acid every day. If you already have had a pregnancy affected by
spina bifida, talk with your doctor about a prescription to take 4,000 mcg (4.0 milligrams). Folic acid
prevents most, but not all, cases of spina bifida.
 Talk to your doctor or pharmacist about any prescription and over-the-counter drugs, vitamins, and
dietary or herbal supplements you are taking.Learn about medication and pregnancy »
 If you have a medical condition―such as diabetes or obesity―be sure it is under control before you
become pregnant.
 Avoid overheating your body, as might happen if you use a hot tub or sauna.
 Treat any fever you have right away with Tylenol® (or store brand).

Spina bifida happens in the first few weeks of pregnancy, often before a woman knows she’s pregnant.
Although folic acid is not a guarantee that a woman will have a healthy pregnancy, taking folic acid can
help reduce a woman's risk of having a pregnancy affected by spina bifida. Because half of all pregnancies
in the United States are unplanned, it is important that all women who can become pregnant take folic acid
before and during pregnancy.

Living with Spina Bifida

Spina bifida can range from mild to severe. Some people have little or no noticeable disability. Others are
limited in the way they can move or function. They even might be paralyzed (unable to walk or move parts
of the body). Even so, with the right care, most people affected by spina bifida will be able to grow up to
lead full and productive lives.

Health Issues & Treatments



 Español (Spanish)


No two people with spina bifida are exactly alike. Health issues and treatments for people with spina bifida
will be different for each person. Some people have issues that are more severe than other people. Those
born with “open” spina bifida usually have more health issues and need more types of treatments.

Some health issues and treatments related to spina bifida include the following:
Open Spina Bifida

When a baby is born with open spina bifida, in which the spinal cord is exposed (myelomeningocele),
doctors will perform surgery to close it before birth or within the first few days of the baby’s life.

A recent study funded by the National Institutes of Health (The Management of Myelomeningocele Study)
and published in The New England Journal of Medicine found that performing surgery to close the opening
on the back of the fetus before birth greatly reduces the need to divert, or shunt, fluid away from the brain.
The surgery also increases the chances that a child will be able to walk without crutches or other devices.
However, infants who had this prenatal surgery were more likely to be born preterm than were the infants
who had the surgery after birth, when it is typically performed. Read the article.


Many babies born with spina bifida get hydrocephalus (often called water on the brain). This means that
there is extra fluid in and around the brain. The extra fluid can cause the spaces in the brain, called
ventricles, to become too large and the head can swell. Hydrocephalus needs to be followed closely and
treated properly to prevent brain injury.

If a baby with spina bifida has hydrocephalus, a surgeon can put in a shunt. A shunt is a small hollow tube
that will help drain the fluid from the baby’s brain and protect it from too much pressure. Additional surgery
might be needed to change the shunt as the child grows up or if it becomes clogged or infected.

For more information, please visit the Spina Bifida Association website:
Hydrocephalus and Shunts in the Person with Spina Bifida

Tethered Spinal Cord

Many people with open spina bifida have tethered spinal cords. Normally, the bottom of the spinal cord
floats around freely in the spinal canal. A tethered spinal cord is attached to the spinal canal. When this
happens, the spinal cord stretches as a person grows, which can permanently damage the spinal nerves.
The person might have back pain, scoliosis (crooked spine), leg and foot weakness, changes in bladder or
bowel control, and other problems. A tethered spinal cord can be treated with surgery.

For more information, please visit the Spina Bifida Association website:
Tethered Spinal Cord

Mobility and Physical Activity

People affected by spina bifida get around in different ways. These include walking without any aids or
assistance; walking with braces, crutches or walkers; and using wheelchairs.

People with spina bifida higher on the spine (near the head) might have paralyzed legs and use
wheelchairs. Those with spina bifida lower on the spine (near the hips) might have more use of their legs
and use crutches, braces, or walkers, or they might be able to walk without these devices.
Regular physical activity is important for all people, but especially for those with conditions that affect
movement, such as spina bifida. CDC recommends 60 minutes of physical activity a day. There are many
ways for people with spina bifida to be active. For example, they can:

 Engage in active play with friends.

 Roll or walk in the neighborhood.
 Participate in community programs, such as the Early Intervention Program for Infants and Toddlers
with Disabilities and Special Education Services for Preschoolers with Disabilities, which are free
programs in many communities.
 Enjoy parks and recreation areas with playgrounds that are accessible to people with disabilities.
 Do exercises recommended by a physical therapist.
 Attend summer camps and recreational facilities that are accessible for those with disabilities.
 Participate in sports activities (for example, swimming) and teams for people with or those without

For more information, please visit the following websites:

Hip Function

Early Intervention Programs for Infants and Toddlers

Special Education Services for Preschoolers with Disabilities

National Center on Physical Activity and Disability (NCPAD) – Spina Bifida Guidelines

Accessible State Parks and Recreational Areas

Accessible Summer Camps

Disabled Sports USA

Using the Bathroom

People with spina bifida often cannot control when they go to the bathroom (incontinence). They also can
develop urinary tract infections. It is important to develop a plan for going to the bathroom that works and is
as simple as possible. This can lead to increased health, participation, and independence, and avoid
embarrassment for people with spina bifida. Healthcare providers can help develop a plan for each person.
A tube (catheter) inserted in the bladder can help drain urine. In some cases, extra fiber can be added to
the diet to keep bowel movements regular. Surgery also might be recommended.

For more information, please visit the Spina Bifida Association websites:

Urologic Care and Management

Bowel and Bladder Needs and Care


People with spina bifida can develop sores, calluses, blisters, and burns on their feet, ankles, and hips.
However, they might not know when these develop because they might not be able to feel certain parts of
their body.

Ways to help protect the skin:

 Check the skin regularly for redness, including under braces.

 Try to avoid hot bath water, hot irons and hot or unpadded seatbelt clasps that may cause burns.
 Make sure to wear properly fitting shoes at all times.
 Use sunscreen and don’t stay out in the sun too long.
 Do not sit or lie in one position for too long.

Latex (Natural Rubber) Allergy

Many people with spina bifida are allergic to products that contain latex, or natural rubber. This means they
should not use items made of natural rubber. For babies, this would include rubber nipples and pacifiers. A
person with this type of allergy can wear a bracelet to alert other people of the allergy.

For more information, please visit the Spina Bifida Association website:
Latex (Natural Rubber) Allergy in Spina Bifida

Health Checks

Every person needs a primary health care provider (for example, a pediatrician, family doctor, or nurse
practitioner). The primary care provider will want to make sure that he or she is healthy; developing
normally; and receiving immunization against diseases and infections, including the flu.

In addition to seeing a primary health care provider, a person with spina bifida will be checked and treated
as needed by doctors who specialize in different parts of the body. These doctors might suggest treatments
or surgeries to help the person.

These specialists might include:

 An orthopedist, who will work with muscles and bones.

 A urologist, who will check the kidneys and bladder.
 A neurosurgeon, who will check the brain and spine.

Other Concerns

Some people with spina bifida have difficulty with:

 Learning
 Relating to others
 Vision
 Staying at a healthy weight
 Depression

The Screening Programs

Neural Tube Defect Screening
NTD screening at Quest Diagnostics assesses risk for open NTD only. Screening is optimally performed between 16 and 18
weeks of gestation although samples may be obtained as early as 15 weeks and as late as 22.9 weeks; it is not performed
during the first trimester because the maternal serum alpha-fetoprotein (AFP) levels are too low in all fetuses to distinguish
potentially affected fetuses from unaffected fetuses. The concentration of maternal serum AFP is determined, and the multiple
of the median (MoM) is calculated by dividing the patient’s AFP concentration by the median AFP concentration for normal
singleton pregnancy at the appropriate day of gestation. Different medians are used for white, African American, Hispanic, and
Asian populations. Adjustments are made to the AFP MoM for maternal weight and insulin-dependent diabetes (type 1
diabetes). These adjustments are required because blood volume varies with maternal weight, and women with type 1 diabetes
have lower levels of AFP and a higher incidence of NTD relative to women without type 1 diabetes. The report includes the
AFP concentration and adjusted MoM, the risk for NTD, and an interpretation.

In 1975, it was reported in the Lancet that “the finding that AFP [alpha‐fetoprotein] levels are often
raised in maternal blood in association with neural tube defect of the fetus is an important advance in
obstetric practice since it presents the possibility of a screening programme leading to early diagnosis
and termination of these abnormal pregnancies.”1

In Britain, during the 1970s, prenatal screening underwent a revolution in the form of ultrasonography
and alpha‐fetoprotein (AFP) screening. As this quotation suggests,1 these new technologies were seen
as a significant step forward in identifying abnormal fetuses and as a tool to facilitate the possible
termination of pregnancy.

In this paper, we offer a historical perspective on medical ethics, but one that differs from the majority
of work devoted to the history of medical ethics. For the most part, the history of medical ethics has
focused on the development of the discipline itself. Thinkers such as Albert Jonsen2 specifically
consider the key events, situations and legal frameworks within which the discipline developed, or the
key factors influencing the thinking of bioethicists. In this sense, the history of medical ethics and the
emergence of bioethics is a history of high medical ethics. In other words, these histories deal with
what could be named as medical ethics in itself.

Although this kind of work is no doubt important, we offer a different notion of the history of medical
ethics by examining the justifications for the screening of spina bifida. Here, we propose to listen to
the silences around ethics in the hope of hearing something new, something that also tells a story of
medical ethics. This paper explores medical ethics in action through the analysis of papers from
the Lancet between 1972 and 1983 related to the development of prenatal screening for spina bifida.

We focus on a select group of sources and on a particular medical problem. The Lancet was chosen as
it represents a particular medical perspective in a period in which prenatal screening was burgeoning,
and because it was (and is) regarded as an authoritative and widely read journal. Because of its status
within the medical community, it also offered an insight into key studies and discussions, allowing us
to outline changes in medical knowledge surrounding prenatal screening. As Treichler has shown, a
field can be quickly constructed, strengthened and controlled by the work of a few key medics and the
status of spina bifida within the medical community also demonstrates this insight.3
From the outset, we want to qualify our findings. It would be foolish to claim that the Lancet authors
represented all the opinions expressed in relation to prenatal screening for spina bifida. We are limited
by the fact that these papers may not express the author's full opinion in this matter, and what is
written could reflect a particular genre of medical writing that hindered expression. However, studies
often did offer justifications for screening and personal opinions were articulated. In addition, letters
were published in response to studies, and editorials reflected the views of the writer. Although there
is no doubt that editorial convention helps to shape the writing of any author, what they chose to say
came to affect the way screening was performed.

We expected that the primary focus of what was named as ethical considerations would be issues
around the doctor–patient relationship; yet, the justification of prenatal screening for spina bifida was
not based in the principle of this relationship. Instead, these papers offer us a chance to consider how
ethics was expressed historically through the justification to screen for spina bifida. In any medical
study, there is always a validation for the study by an appeal, either implicit or explicit, to its rational
and social value. We aim to understand what these justifications and guiding values were during the
emergence of new screening modalities. We find that justification for prenatal screening was implicit
in the Lancet between 1972 and 1983, and were grounded in terms such as prevention, efficacy and
benefit. Through a close examination of these charged terms, the justification of mass programmes to
screen for spina bifida emerges as one that embraces a complex economic morality.

Go to:

New technologies and the notion of prevention

Two main methods of detection were used to screen for neural‐tube defects—ultrasonography and
AFP testing. Ultrasonography was already in military use in the early 20th century, and was used as a
diagnostic medical tool in America in the 1940s. Innovations occurred in Glasgow under Ian Donald
during the 1950s, but it was not until the 1960s that it was applied more regularly when studying the
fetus. By the late 1960s, ultrasonography was first used to uncover fetal abnormalities, and Stuart
Campbell seems to be the first to have diagnosed an anencephalic fetus at 17 weeks in 1972 and spina
bifida in 1975.

In tandem with these sonographic developments in 1972, Brock and Sutcliffe realised that the
increased AFP levels in amniotic fluid were associated with fetal abnormality. By 1974, maternal
serum was being used clinically to detect AFP levels as a predictor of fetal abnormality, and by 1977,
a screening regimen was in place for women who were at 16 and 20 weeks of gestation (optimum
time between 16 and 18 weeks). The screening programme began with maternal testing of serum for
AFP levels, followed by ultrasound and amniocentesis for screening of amniotic fluid, with a
termination that could be speedily arranged. Those deemed at risk of giving birth to a child with spina
bifida underwent amniocentesis without serum screening.

Childbirth was already a legitimate moment of medical intervention, but this was also a period in
which pregnancy was in the headlines because of the Abortion Act of 1967, the rise of family
planning and the contraceptive pill. Medical involvement also made sense here as fertility rates
fluctuated and overall child mortality fell dramatically. But something new was afoot. With the rise of
screening for a spina bifida baby, a space opened for a shift in focus from preventing death to
uncovering abnormality.4

Go to:
The ethos of prevention

The rise of preventive medicine in relation to public health has been well documented by many
historians. Although we do not examine this well‐worn narrative, it is important to note that from the
rise of preventive medicine from the ashes of the 19th‐century sanitary ideal, technology and medical
innovation were clearly important points of rational quantification and evaluation that increased state
intervention in everyday life.5

The creation of the National Health Service (NHS) in 1948 saw public health as both a national
responsibility and a priority.5 By the 1970s, public health was increasingly on the government's
agenda. The NHS's reorganisation in 1974 helped to emphasise the fight against ill health by
promoting personal responsibility.4 In the struggle to rationalise this approach, the concept of
prevention became a powerful tool. Used in a series of governmental documents—all beginning with
the title “Prevention”—smoking, drinking, eating habits, and pregnancy and childcare were of central
concern. Embedded in these texts was a desire to reorient behaviour to, “keep people healthy and to
improve the quality of life”.6 Such a vague statement warrants further consideration as it fails to
examine what governs the choices made in preventive medicine, whether in terms of categorisation or
treatment. Yes, screening sprang from the medicalisation of the motherhood, the rise of technology
and conceptions of disability, but also from the fact that categorisation of illness outstripped ability to
cure.7 Spina bifida was detectable but not curable. Skrabanek8 has defined this form of prevention as
“anticipatory medicine”, which speculates the possibility of risk. In terms of prenatal screening, this is
a complex issue, as it is difficult to tell whose health takes centre stage: the mother's, the child's or the
nation's. With screening, prevention would take on a new meaning.

The health of the nation and prevention were entwined in governmental documents. When uncovering
abnormality, they suggested that “the only ‘treatment' on offer is termination of pregnancy”.9 This
ethos was found in the Lancet texts. Of course, work had been carried out to discover the roots of
spina bifida; race, environment and even potatoes had been put forward as likely, if unsound,
candidates, but termination as prevention was even being promoted by Brock and Sutcliffe, the
pioneers of AFP screening in 1972. In a remarkable short piece that covered just two pages in
the Lancet, they stated thrice that their screening tool would allow for the termination of those with
anencephaly and spina bifida:

A marker molecule, which indicates an affected fetus early enough to allow termination of pregnancy,
has so far not been found. We suggest that alpha‐fetoprotein (AFP) could act as such a marker

What is interesting about this quote is the accepted coupling of “affected” pregnancies and
“termination”. Brock and Sutcliffe's primary goal was to find a marker and an optimum moment that
enabled a distinction to be made between abnormal and normal fetuses in order to facilitate the
termination of the abnormal. To many, this may have seemed an obvious link, but by unquestioningly
suggesting that abnormality led to termination, medicine over‐reached its boundaries, perhaps
crossing the brink into social engineering. Although this is no simplistic accusation of eugenic
principles at play, for some, this idea was so embedded in medical practice and notions of progress
that no discussion of therapeutic options or choices was made.

This position was apparent in a number of influential works in the Lancet such as that of Campbell et
al.11Campbell thought that ultrasound could enhance AFP screening. In Campbell's study, after raised
AFP levels were recorded, ultrasound was used as a tool to confirm the presence of abnormalities. In
Campbell's series of three case studies, all ended in a termination recommended by the medical staff.
The efficacy and benefits of this procedure is discussed later, but it is interesting to note that the link
between detection of abnormality and termination was so strong that termination was recommended in
all three cases rather than offered as one alternative, even though one fetus was noted to have no
sonographic evidence of spina bifida or anencephaly.11 Although reaction to the efficacy of
ultrasonography was evident, little was said in relation to the correlation between abnormality and

Yet the natural link between abnormality and termination was not only to be found in Brock and
Sutcliffe, or in Campbell. Most saw this as a clear indicator of scientific advancement; their
excitement and even pride could not be contained. Leek et al12 proclaimed, “this is the first reported
case of prospective diagnosis and termination of an open neural tube defect arising from routine

These views were consolidated in the influential report of the UK Collaborative Study on AFP in
relation to neural tube defects in 1977.13 Again, termination was offered as “the only means available
for reducing the number of live infants born with these congenital defects”. As confidence grew in the
process, and serum testing became an option, widespread screening became a distinct possibility. This
was not an outlandish prospect, as screening in “high‐risk” cases was already routine even though no
one could clearly delineate who was really at risk, let alone at high risk.14 Still, the Department of
Health and Social Security (DHSS) strongly endorsed this agenda.13,15

Go to:

Conversation and the emergence of the ethical

A few voices did ring out against the coupling of termination and prevention in letters to the editor of
theLancet. One such letter, by Brereton, highlighted several pertinent points as follows:

1. Termination did not prevent abnormalities, but prevented the birth of an abnormal fetus, a
claim also made by Goodhart.16 This did not mean that termination was seen as
objectionable merely because primary prevention could prevail at some point.17
2. There was a lack of delineation in relation to abnormalities. This was patently clear in most
studies in which “abnormality” or “malformation” were used as catchall terms. Another
letter by Ellison‐Nash18 really argued this point effectively.
3. The decision‐making process could be problematic.19

Although none of the above points received rigorous ethical debate, Brereton's concern over
decision‐making processes did begin to explore, however weakly, the ethics.

Other Lancet authors, such as Walker, tried to emphasise that decisions to terminate pregnancy should
be made jointly between the parents and the obstetrician. This was merely a restatement of the
importance of decision making, which was the dominant discourse in medical ethics at that
time.20 Likewise, other than a single editorial remark and a few observations about “distaste” for
termination in some hospitals, and religious or moral obligations in stranded and perplexing sentences,
the question of decision making remained unworthy of lengthy discussion in the Lancet.14,17

However, the question was raised in one governmental document, the DHSS consultation paper,
“Screening for spina bifida and other neural tube defects”, which was referred to by one article in
the Lancet.15 Still, in the section devoted to “Ethical Problems”, this discussion was very brief—five
sentences in length. The ethical qualms were represented here in terms of the difficulties that arose for
the doctor–patient relationship, only insofar as the doctors' decision might be challenged by the
patient, as stated, “difficulties may arise when there is reason to suppose that termination of
pregnancy would be unacceptable”.21 Issues over the doctor–patient relationship was firmly placed
back into the hands of the practitioner.21

Consistent with what we expected to find, the only moment named as the ethical was when a doctor's
decision might be questioned. In other words, the ethical is only named as such when the desired
outcome—termination—was questioned. Such doctor‐centred decision making is not surprising
during a period in which medical paternalism was still commonly acceptable. It would be
anachronistic to dwell on the lack of discussion about the importance of patient‐centred decision
making; instead, we wish to draw attention to the other two points. Firstly, the drive to prevent the
birth of abnormal fetuses through screening and the subsequent termination was deemed as
progress—scientific, medical and social development. This was indicated by the coupling of diagnosis
and prevention, abnormality and termination. Secondly, the risk was only addressed in relation to
normal fetuses that might be lost during amniocentesis and the problems surrounding efficacious
screening, which we deal with in the next section.

These short conversations within the DHSS document addressing “ethical problems” serve only to
highlight the paucity of ethical discussion within the Lancet itself. Although we may not expect
the Lancet to have sustained ethical discussion, what is most interesting to us is the fact that ethics
does emerge, but only in conversational tones, and that screening only became an ethical question
when it was perceived to hinder scientific and public health progress.

Cooter22 has suggested that in “most exercises in the application of philosophical logic to “practical”
medico‐social issues, one comes away dismayed at the shallowness (or absence) of socioeconomic
and political understanding, at the technological determinism behind the ethical agenda setting …, and
at the underlying uncomplicated notions of, and faith in, “progress” and change”. This statement is
harsh indeed, but it is possible to consider this point in another way—namely, that the lack of a
rigorous notion of an ethical dimension results from more robust and unquestioned notions of
socioeconomic and political progress. It seems more likely that ethics was conceived as
unquantifiable, such as, the doctor–patient relationship, which did not lend themselves to numerical
designation and quantifiable markers of progress. Implicit in the Lancetand related papers is a sense
that the authors thought they were making calculations independent of ethics or morality.

In addition, the same DHSS document draws our attention to the distinction between the quantifiable
and the non‐quantifiable, which it couches as the humanitarian versus the economic. In some senses,
it seems that they are binary opposites as the opening paragraph of this section reads:

While the humanitarian arguments for the prevention of spina bifida and related disorders are
paramount, the economic considerations also deserve examination.21

The rest of the four‐sentence paragraph deals solely with economic concerns of universal screening
and the prevention of costs incurred in the care of children born with spina bifida. We find no
evidence that these “humanitarian arguments” for screening were being offered.

However, unlike prenatal screening, such debate was evident in the “treatment” of spina bifida,
specifically in the case of “selective” treatment. A discussion between Lorber23 and Zachary24 centred
upon the justification of treating such infants. Zachary's promotion of treatment for all came up
against Lorber's belief in selective treatment for those deemed a burden. Here, the question of
personal, familial and social suffering was expanded upon in detail. In the early 1980s, this debate
was also explored by Harris, Anscombe and Cuisine, who engaged with Lorber on the ethics of what
Harris termed “selective non‐treatment” that effectively advanced the death of infants with spina
bifida considered too disabled to live.25,26,27,28 What is interesting is that the treatment debate did not
overtly leak into discussion over screening and prevention. This lack of dialogue within prevention
suggests perceived differences between prevention and treatment, and a fetus and a live baby.

In addition, there was activity around disability rights in the 1960s and 1970s. Still, there is scant
evidence that early screening debates heard these voices. Davis,29 the activist, did attempt to engage
with the medical arena during the 1980s, but seems to have had little impact on early screening
debates. In reality, the justification for the prevention of spina bifida births came down to a particular
balancing of efficacy and benefits, and it is here that the justification for screening was forged.

Our attention then is drawn not to what is named as ethics in itself, but instead to the silences about
ethics. Ethics, at least in part, is about the justification of a decision to act in a certain way. Scientific
and technological progress, as noted above, is its own assumed justification, but is also tied up with
notions of societal progress. We turn then to the bulk of the discussions in the Lancet, which were
mostly based on issues surrounding efficacy, which was constructed with preconceived notions of
benefit in mind. What was deemed as an exercise in ensuring efficacy and cost:benefit analysis—the
economic as opposed to humanitarian/ethics—was actually a process of moral justification, as we
shall now show.

Go to:

Uncovering the ethical


In contrast with the discussion labelled as ethics, debate raged around the question of efficacy.
Authors spent considerable energy weighing up whether the process actually detected the abnormal,
and, secondly, whether this was an efficient way to carry out the task of screening. Several key topics
were considered including the line at which AFP levels denoted abnormality, when affected fetuses
were missed, the impact of screening on normal births, factors that affected readings, who to screen
and finally issues that lay outside of scientific control. These were seen as worthy of discussion as
they were points of clear dispute, but were also expressions of preformed notions of disablement.

Brock and Sutcliff's AFP measurement signified a decision that amounted to the drawing of a line. As
was stated in the 1977 collaborative report, there was no natural level of AFP but instead there were
measurements that required expert reading.13 On one side of the line were those with supposedly
normal AFP ranges, and on the other were those with high AFP levels; one side normal and the other
abnormal. Discussion rested on the most efficacious point that such a line could be drawn rather than
on questioning the validity of such an artificial demarcation of disability.

After much discussion, it was agreed that AFP levels that exceeded the “normal median” by 2.5 times
at 16–18 weeks of gestation was defined as abnormal.13,15 Apprehension existed as to the number of
impaired that would be missed if the line shifted to the right, but real anxiety was allocated for those
healthy infants who would be terminated, as there are always false positives. A repeated screening
may have weeded out incorrect readings, but it was possible for high AFP ranges to be consistent with
unaffected births.30 For example, in the study by Campbell et al,11 a normal baby was terminated
because of raised AFP levels in both the maternal serum and amniotic fluid, and because the mother
had previously produced an affected baby, despite the lack of ultrasonographic evidence of spina
bifida. Leighton et al1 suggested that 5% of cases would prove to be false positives, although this was
decided via statistical analyses rather than material data. The regional incidence of spina bifida should
have been an important factor, as Wales and Northern Ireland both had high rates of “abnormal”
babies. Conversely, areas with a lower incidence of affected fetuses could artificially raise the
numbers of false positives, and it was suggested that screening could harm more healthy fetuses than
abnormal ones. This issue was never fully discussed in terms of screening programmes, but the desire
to target those who were thought to be at high risk was discussed.

Usually the most efficacious way to find affected fetuses would be to screen high‐risk groups. The
concept of risk was fundamental to the New Public Health. Expertly defining statistical risks was seen
as a neutral procedure. In terms of the estimation of risk—or should it be called the construction of
risk categories—in the New Public Health, Castel31 has shown that the new definition of risk gave rise
to moments of legitimised intervention while being sold as unproblematic. In a period where cost was
increasingly important, it was vital to target those seen as posing the greatest economic risk.

From the beginning, those who were deemed most likely to produce an abnormal baby underwent an
amniocentesis without serum testing. At first glance, this would seem a logical procedure until it was
realised that only 10% of affected births were associated with those who were categorised to be at
high risk. A total of 90% of affected births were from those with no previous history, or from other
risk categories. Thus, the targeting of those deemed at risk was problematic and was not a particularly
successful way of preventing such births. Moreover, assumptions could be made about the likelihood
of having a baby with spina bifida that could lead to false readings, as the Campbell case indicates.

Incidents of spina bifida had been higher in Britain than in some other countries, which did help to
spur on governmental concern. Here statistics could lead the way. In 1975, the DHSS recorded 1748
children with a neural‐tube defect. Looking at spina bifida alone, and by taking into consideration a
range of viewpoints, this was translated into 2.6 births/1000 in 1975. Moreover, the incidence of spina
bifida was decreasing before the routine screening of all women was in place, although the screening
of high‐risk pregnancies may have helped shape these figures. Falling per year from 1138 in 1970 to
979 in 1973 the incidence had decreased to 678 by 1976.32 The reasons behind these drops were
unclear and, some believed, did not reflect an increase in screening.32 In reality, such figures were
problematic, and did not take into consideration regionalism and fluctuations in incidence. For
Althouse,32 the only way to make sense of screening was to look closer at the efficacy of screening
and ignore national figures. Althouse, however, seemed to ignore the fact that efficacy figures only
served to highlight effectiveness (not whether this procedure was needed in the first place). The need
was assumed. Strangely, no one seemed too interested in the innovations in treatment for spina bifida
during this period, in the form of valves to control cerebrospinal fluid pressure and operations to close
lesions. Again, these developments were found within the selective treatment debate and did not form
part of an ethical discussion within screening.

Although problems surrounded the idea of a line to distinguish abnormality, high‐risk patients were
no real benchmark of impairment, false positives could occur and the level of defect was unknown,
screening was also subject to the vagaries of practice. Other factors, such as twinning, blood in the
amniotic fluid sample and screening at the wrong time could all artificially increase serum and
amniotic AFP levels. To some extent these could be uncovered by ultrasound, but that was not in the
least certain as Campbell et al's study showed.

In addition, interpretation of AFP levels was dependent on the accuracy of menstruation dates, putting
the onus on women for the efficacy of a screening and termination programme. Moreover,
Chamberlain33 noted that women did not always undergo screening at the optimum time; they refused
a termination or they declined further tests. Oddly, the reluctance of parents to go through the full
process was seen as a hindrance to efficacy of the prevention programme, rather than a point at which
genuine ethical discussion could take place.

Moreover, parental concerns were interpreted as affecting the success of prevention of spina bifida,
materially and negatively. In Roberts et al's15 study in South Wales in 1983, Chamberlain's concerns
were substantiated. The failure of women to undergo screening or agree to a termination caused a
decrease in efficiency levels in practice from 95% down to 65%. No one discussed why women would
choose not to undergo screening and termination except in simplistic and conversational
tones.15 Roberts' discussion focused on “failure to undergo screening”, where open neural‐tube defects
were being missed and gestation dates were problematic. Although he considered the role of the
practitioner and improvement in administration as being important factors, the failure to terminate
was described as “another disappointing finding … arising from an aversion to abortion and fear of
termination of a normal pregnancy, the high false positive rate of serum AFP tests, and the fact that
some 60% of OSB [open spina bifida] pregnancies end in stillbirth or neonatal death”.15

In short, Chamberlain and Roberts et al saw that patients avoided invasive medical procedures, but
failed to see it as an issue worthy of discussion beyond the need for better education and
communication. No one seriously examined the possibility of any moral concerns that patients might
have had. In reality, it was never clear exactly how many fetuses would really be detected.
Chamberlain and Roberts had shown that many factors interfered with the screening process and no
amount of cost analysis would account for human decision‐making processes. This was perceived to
be a problem in a period in which public health had promoted personal responsibility. Although the
incidence of spina bifida was not due to personal choice, screening was. Mothers could be blamed if
they failed to adhere to the recommendations of the medical profession, failed to turn up on time,
mistook their gestation dates and, even worse, if they refused to undergo a termination when
positively diagnosed.

In terms of efficacy then, there was much argument about the process of screening. Issues focused on
the reliability of this process and the confounding variables that would impinge on the numbers of
fetuses with spina bifida that could be found and terminated. It becomes clear that numbers of false
positives and the ambiguity of an abnormality line were not enough to halt screening programmes.
The desire to uncover the disabled was enough of a benefit to support technology being harnessed in
this manner, independent of the vagaries of efficacy. As MacIntyre34 points out in After Virtue, which
was published shortly after these studies, the great moral imperatives of modern society are the
efficacy and efficiency of a process. The end, the goal or the presumed benefit is never questioned.
Progress in science and society is its own justification. The debate around efficacy expressed certain
preconceived notions of benefit, as we shall see this was articulated as the prevention of what was
understood to be a costly and non‐productive future member of society.

It is clear that the biggest benefit of prenatal screening was the prevention of the births of those with
spina bifida, but why was spina bifida seen as so problematic? In these studies, the problem of spina
bifida was assumed and a simple correlation between prevention and benefit was assured. However,
some tried to quantify the possible benefits via cost. Here, cost was seen in light of both utilitarian
principles of happiness and also in terms of economic/monetary value. Of course, these two issues
overlap, but for the purposes of this paper, and indeed many authors attempted to do just this, they are
divided into two.

Financial cost is at the core of understanding the position of disability in society from the late 18th
century until today. Here the rise of industrialisation has been coupled with the understanding of the
economic accountability of an individual. In terms of disability, writers such as Michael Oliver 35 have
suggested that impaired bodies were seen as a drain on the economy rather than a source of
production. This characterisation helped to medicalise the impaired body. In reality, the construction
of disability was more complex than suggested here, but the rise of industrialisation and the role of the
medical profession were significant and interlinking factors.

Cost was an important issue during the emergence of AFP screening, and was acknowledged in
the Lancet, as well as in the Department of Health documents. A piece entitled, “How to set priorities
in medicine” stated that, “the allocation of priorities in medicine—for money, manpower, and
materials—is inescapably the most important topic facing the profession at this time”.36 This was
more extensively discussed by Meade,37 who saw that cost and balance were now fundamental parts
of any medical discussion because of three problems: (1) the rise of knowledge and technology to
support life; (2) NHS consumers had risen in number; and (3) that the economy had worsened. Indeed,
the rise of screening and prevention agendas occurred during a period of economic difficulties, in
which rates of inflation and oil prices were soaring. The NHS was desperate to cut costs and control
the leviathan that healthcare had become.

In 1975, as prenatal screening was on the increase, the benefits of a national screening programme
were made abundantly clear:

The advantages gained …, due to early detection of severe neural‐tube defects and other
abnormalities, [would lead to] … a major reduction in the number of cases of spina bifida requiring
long‐term institutional care. In crude economic terms, the value of the savings in healthcare alone
would probably far outweigh any costs of a screening programme.1

Coupled with the wider economic concerns of the NHS, Leighton's cost‐cutting prophecy was widely
believed. Not only were costs to the NHS being estimated—a term that cannot be over‐exaggerated in
this context—but researchers also alluded to cost savings to society in domains such as education and
infrastructure support for future citizens living with disability.38 However, it was the assumption,
made by Leighton and others, that disability was a cost to the nation that leaps out. Here the phrase
“would probably far outweigh” suggests that the real cost of disability was yet to be determined, as
was also the case in the 1977 collaborative study that at once assured that savings could be made but
revealed that this was based on “untested assumptions”.13

It is clear that the pre‐existing understanding of disability was influential in both defending and
promoting prenatal screening and termination based on the notion that these were costly and
unproductive citizens. The work of Glass and Cove39 for the DHSS finally confirmed what others had
surmised in 1978: that widespread screening could save the public coffers. They suggested that a
screening programme would pay for itself in 1 year if it was 95% accurate. Some were less convinced
of the amount of savings that could be made, but the desire to save money was too powerful to
resist.40 This desire fed into Meade's vision for the NHS, where preventative action would limit the
numbers of sick and save money.37 Of course, this argument had its flaws as discussed by Cochrane in
1971 and McKeown in 1976, but this idea was both seductive and prevalent.5

There was some effort to sound as if financial considerations were not paramount, but it meant little.
The above‐discussed DHSS document had suggested that although humanitarian arguments to prevent
spina bifida were vital, economic costs were worthy of consideration. This was a hollow statement as
only the issue of costs was fully addressed. This was in evidence throughout most of the letters and
studies already discussed.

The second issue in relation to benefit was the utilitarian notion of happiness. Covered most
comprehensively by Chamberlain in 1978, she considered the non‐financial side of the benefit
argument. She suggested that the key benefit of screening would be the termination of affected fetuses,
delicately described as “averting the birth”. In one sense, benefit was defined as preventing the births
of those “who would have survived to live a handicapped life”.33 In her utilitarian calculus, benefit for
society increased in direct proportion to the number of terminations, and the prevention of the
perceived suffering of abnormal children. This fell in line with the efficacy debates as Chamberlain
understood costs as the potential termination of a healthy child. Thus, benefit is understood in terms
of the number of true positives terminated, and cost is understood in terms of the number of false
positives terminated. According to Chamberlain, we need simply to weigh these benefits and costs to
perform the calculus.

Although she was uncertain as to the efficacy of widespread screening, she had no doubt as to the
benefits of preventing spina bifida births:

As with many other screening programmes, it is disappointing, when benefits are estimated on a
population basis to find that so many affected pregnancies are likely to escape early detection and
termination … but a reduction of 200 births a year is certainly a worthy objective.33

For Chamberlain, the calculus is clear, and benefit clearly outweighed any cost. She even minimises
the pain of the cost of terminating a normal fetus when she says:

It is generally assumed that termination half‐way through an affected pregnancy causes less upset
than a still or neonatal death, and the distress which a severely handicapped child imposes on a
family is well documented.33

At the heart of such ideas, as Polini41 suggested in 1978, was the ability to control pregnancy.41 By
harnessing technology, the “problem” of spina bifida could be lessened to create benefit to the
individual and society by “diminish[ing] the burden of unhappiness”.41 Although the Lancet collection
did not spend much time discussing this position, implicitly, the basis of prevention in relation to
benefit was also measured in terms of happiness to the nation.

Cost then was seen by some as a negative term that highlighted the unhappiness brought about by the
life of a disabled person, seen especially in terms of long‐term financial burden. The one
unambiguous moment of dissension came from Ellison‐Nash who clearly saw the implications of such
arguments. In a strident letter to the editor, he suggested that crude cost analysis did not take into
account delineations of impairment. Nor did it reflect upon the “scores of happy useful citizens
earning their living who were born with an open spinal defect”.18 The balancing of these costs and
benefits was only possible if a more efficacious screening test could be achieved, with statistical lines
drawn at appropriate levels. For most authors, cost was based on evaluating the loss of those “normals”
that were terminated, and those “abnormals” who were not terminated; benefit was constructed as the
prevention of those who were diseased, or more accurately, as the eradication of the “abnormal” that
was embedded in negative connotations of disablement.

Go to:


In this study, we have looked historically at the justification of prenatal screening for spina bifida and
although this analysis focuses on spina bifida, it is clear that our conclusions could pertain to other
fetal abnormalities. Indeed, the work of Nicolas Wald traversed spina bifida and Down's
syndrome.30,42 It was no surprise to see that ethics was labelled in relation to the doctor–patient
relationship. What was surprising was conversational tone taken by the authors when discussing the
ethics. While ethics was named as the doctor–patient relationship, we have shown that real ethical
issues—those discussions around the justification of screening—lay silent, hidden beneath the
language of statistical effectiveness and assumed notions of benefit. We have claimed that by looking
at extensive sections on efficacy and statistics—by looking at what was contrasted with the ethics and
the humanitarian—we see an elaborate justification offered for effective widespread screening
programmes geared towards the eradication of spina bifida.

In reality, by stressing the efficacy and benefit, the notion of prevention was justified in quantifiable
terms. The benefits of prenatal screening for spina bifida were to save the national coffers, which
would increase happiness. Moreover, by reducing the costs associated with disability, and by
supporting technology, the ailing economy would also reap benefits.

As Skrabanek has said:

It does not matter what you screen for … is prevention better than cure? To ask about the ethics of
screening, generally aimed to make healthy people healthier, sounds, if not perverse, then definitely
suspicious. The fact that screening is a swinging, lucrative business is an incidental phenomenon—a
rare example of goodness being rewarded on this earth.8

What we have then is a moral calculus, or perhaps better, a complex moral economy, where both
monetary and non‐monetary benefits were assumed, and where social and scientific progress were
linked together in an attempt to create an efficient and effective programme of delivering what we
were assured society needed.

The connection between the category of disability and economics was nothing new, but when
medicine justifies its actions in terms of the effectiveness of AFP screening towards assumed benefits
of prevention of spina bifida, or better, towards the eradication of the costly abnormal, it is clear that
we are dealing with a broader notion of justification of action. That which was named the ethical was
only part of a much more complex moral economy.
Costs associated with fortification are often shared by the public and private sectors. In most cases, millers are responsible for
capital investment in machinery, testing supplies for mill quality control, and staff training while the state pays for national
quality assurance, monitoring, and evaluation. Determining who is responsible for these various costs requires dialogue
between government and industry.

To reduce costs for flour fortification, milling associations sometimes order premix in large quantities, have it delivered to a
central location, and then distribute it among members. Governments may eliminate import taxes on premix or fortified flour and
flour products, provide tax incentives for investment in new equipment, or subsidize fortification start-up costs. Non-
governmental organizations in some cases offer grants for start-up costs.

When costs are passed on the consumer, the incremental increase in retail cost of fortified flour and rice is negligible. For 1
kilogram of flour, the increase may be around US$ 0.00063, or 0.16% of current retail price. For 1 kilogram of fortified rice, it
may be around 1.5 - 3% of current retail price (between 8 and 16 US cents per 10 kg of rice).


PARKER – A chance encounter lead to a memorable 'pre-homecoming dance' for a group of girls
battling life-changing disabilities.

Three of them have spina bifida, while another has a different kind of spinal defect.

The owners of Bonne Bella Boutique and Consignment met the mother of one of the young girls
over the weekend. During that encounter, they learned about the girls' disabilities. The owners
also learned some of the girls had been bullied at one point in their lives.

"When one of the moms came in and mentioned it to me, it really struck my heart. I wanted to do
something special for them," said Floyd Bruns, co-owner of the boutique.

When Bruns was a kid, he was hit by a car and couldn't walk for three-and-a-half years.
"When you're a kid, that's tough. Really tough," he said.

The owners were so touched by the story, they decided to throw a 'pre-homecoming party' get
together at their store that same night. The owners reached out to other local business owners
who donated their time and resources to make the night extra special.

"It restores my faith in humanity, that there are still people out there like this that are doing this
thing out of the kindness of their heart," Christina Harris, mother of one of the girls, said.

Four girls total attended. One of the girls had both of her legs amputated when she was 10 years

Aside from the boutique, a professional makeup artist and a professional fashion photographer
also helped out. The girls were given fancy dresses, beautiful makeup and were photographed to
capture the special occasion.

"It was an amazing night for some courageous young women who truly deserve a chance to get
their mind off of things and just be girls together," Eric Raum, who helped with the event, said.

Nowadays, the girls are surrounded by amazing classmates who always make them feel
welcomed. After the party at the boutique, they attended a homecoming at a local high school.

The girls said the night was magical.

Spina Bifida and Fetal Surgery: Mia
Lisa's Story

“There is no way you’ll be able to handle this." With those

words, Giovanna Capuano’s doctor nearly destroyed her hopes
for the future.

Seventeen weeks pregnant with her second child,

Giovanna and her husband Louis had just learned that the baby she was carrying
had spina bifida. The prognosis was likely dismal, given the traditional options
for treatment.
The most common birth defect of the central nervous system, spina bifida is not
usually fatal, but it can be nonetheless devastating. Through a failure of the
spinal column to close properly, a portion of the baby’s spine and spinal nerves
protrude from the back and are exposed to damage as the fetus grows in the
uterus. The Capuanos’ doctor laid out a long list of potential effects: paralysis,
dangerous buildup of fluid in the brain (hydrocephalus), cognitive delays and
impaired bowel and bladder function.

The ultrasound study used to make the diagnosis showed more bad news: the
spina bifida lesion was located high on the baby’s spine. Generally, the higher the
level of the defect, the more severe the neurologic consequences. Given the
negative spina bifida prognosis, the Capuanos were advised to consider
terminating the pregnancy.
“They could not have told me anything worse,” recalls Giovanna.

Where hope began

Hope entered the picture when Giovanna’s brother happened to see a TV news
story about the groundbreaking work in fetal surgery taking place at The
Children’s Hospital of Philadelphia. Giovanna and Louis were able to see the
news program for themselves and were inspired by the story of one of CHOP’s
first fetal surgery patients for spina bifida repair. Almost immediately, the couple
got in touch with the Hospital’s Center for Fetal Diagnosis and Treatment.

In the past, a spina bifida diagnosis meant surgery soon after birth. But Center
Director N. Scott Adzick, MD, and members of the team had pioneered a
surgical technique for repairing the defect while the baby was still in the womb —
thus greatly improving spina bifida prognosis for patients.

Long years of meticulous research had led them to believe that early repair could
save the developing spinal cord from months of further injury from the uterine
environment — and possibly prevent or lessen some of the most devastating
effects. Their theory was borne out in the cases they had performed on fetuses at
CHOP beginning in 1998. By 2010, it would be confirmed in a groundbreaking
national study, for which Children’s Hospital served as one of the lead centers.

Giovanna and Louis traveled from their Clermont, NJ, home to meet with the
multidisciplinary team at the Center for Fetal Diagnosis and Treatment. There,
Giovanna underwent an extensive evaluation, including advanced diagnostic
imaging and a psychosocial screening to determine if her pregnancy met the
carefully defined criteria for fetal surgery. It did. The Center team then provided
the couple with information — lots of it.

“They spoke with us at length,” says Giovanna. “They explained the risks of the
procedure, the complications that can arise and the medications I would need to
take to avoid premature labor after the surgery.”

A good sign
On March 16, 1999 — the day before her scheduled surgery at Children’s
Hospital —Giovanna looked out the window and noticed “a rainbow from out of
nowhere.” She and Louis took that as a good sign.

The next day, everything indeed went smoothly. The fetal surgery team, led by Dr.
Adzick, opened the uterus and Leslie Sutton, MD, chief of Neurosurgery at
CHOP, performed the repair on the baby’s spine. Giovanna’s womb and
abdomen were then closed. She was just 24 weeks into the pregnancy.

Like many mothers who opt for fetal spina bifida surgery, Giovanna spent the
next 12 weeks of her pregnancy at the Philadelphia Ronald McDonald House,
where she remained on bed rest as directed by the CHOP team. The Center
insists that patients stay in Philadelphia and take every precaution to prevent
premature labor, one of the major risks of the surgery.

Born to dance
On June 8, 1999, Mia Lisa Capuano was born by planned Cesarean section. She
weighed 7 pounds and showed no evidence of brain damage or impaired
movement. While Giovanna had to remain in the hospital for five days to recover
from the delivery, baby Mia was ready to go home in just two! Her delighted
parents were soon able to introduce her to her big brother.

“She did remarkably, right from the beginning,” marvels her mother.

As she grew, Mia Lisa met nearly every developmental milestone on time.
Although she was 2 before she walked independently, she hasn’t looked back
since. In fact, movement is a huge part of her life: her great passion is dance,
which she has studied since age 3. Now 11, Mia has full bowel and bladder
control and has never experienced hydrocephalus, so has not required a shunt.

Continuing care as needed

In 2010, she returned to Children’s Hospital for surgery to untether her spinal
cord. A child’s spinal cord is meant to slide up and down freely within the spinal
column as the child moves. In most children with spina bifida, however, the spinal
cord is held in place by surrounding tissue or “tethered” so it cannot slide as it
should. Children may have no symptoms from tethering or they may experience
pain, loss of strength and difficulty walking, among other signs. Mia Lisa began to
experience excruciating back pain and a loss of stamina.

Between 20 and 50 percent of children with spina bifida will eventually require
surgery to relieve the problem. Children’s Hospital neurosurgeons are highly
experienced in untethering procedures, as part of the comprehensive care the
Hospital’s Spina Bifida Program provides patients as they grow. Giovanna
reports that Mia Lisa is almost back to her full level of activity before the surgery
— she recently participated in her seventh dance recital.

“She understands what could have been,” says Giovanna. “When she sees
someone in a wheelchair, she wonders if they have spina bifida."

Giovanna and Louis understand, too, what could have been and how fortunate
they were to learn about the Center for Fetal Diagnosis and Treatment and
improve Mia's spina bifida prognosis.

“We can’t imagine where we would be without CHOP right now,” says Giovanna.
“How do you ever repay someone for helping your child live a normal, more
functional life?”

Originally posted: February 2011

Recommended Dietary Allowance
The Food and Nutrition Board of the Institute of Medicine has established recommended dietary allowances for
folate. Infants from birth to 6 months of age need 65 mcg per day and infants from 6 to 12 months require 85 mcg
per day. Children 1 to 3 years old require 150 mcg daily and children 4 to 8 years old need 200 mcg per day.
Form the age of 9 to 13, children need 300 mcg of folate daily. Adolescents through adulthood require 400 mcg
daily. Pregnant women need 600 mcg per day and breastfeeding women require 500 mcg each day. Folic acid
needs increase when individuals are under physiological stress, consume excessive amounts of alcohol, have a
high metabolism or suffer from conditions such as hypothyroidism.


There is no health risk associated with folate intake from food. However, there is risk of
toxicity from folic acid found in dietary supplements and fortified foods. Folic acid is used to
treat a folate deficiency. However, a folate deficiency is virtually indistinguishable from a
vitamin B12 deficiency. Large doses of folic acid given to an individual who has a vitamin
B12 deficiency and not a folate deficiency can cause irreversible neurological damages. The
Food and Nutrition Board of the Institute of Medicine has established a tolerable upper intake
level for folate. For children 1 to 3 years the limit is 300 mcg daily, for children 4 to 8 the
limit is 400 mcg daily, for children 9 to 13, the limit is 600 mcg daily, for adolescents 14 to
18 the limit is 600 mcg and for those 19 and older the limit is 1,000 mcg per day. Intakes
above recommended limits increase the risk of adverse health effects.
Signs and Symptoms
Having too much folic acid in the body can result in a variety of signs and symptoms. Less
serious side effects include digestive problems, nausea, loss of appetite, bloating, gas, a bitter
or unpleasant taste in the mouth, sleep disturbances, depression, excessive excitement,
irritability and a zinc deficiency. More severe signs include psychotic behavior, numbness or
tingling, mouth pain, weakness, trouble concentrating, confusion, fatigue and even seizures.
An allergic reaction to folic acid may cause wheezing, swelling of the face and throat or a
skin rash.


Neural tube defects in Malaysia: data from the Malaysian

National Neonatal Registry.
Boo NY1, Cheah IG, Thong MK; Malaysian National Neonatal Registry.
Author information
This study aimed to determine the prevalence and early outcome of neural tube defects (NTDs) in Malaysia. This prospective study
included all neonates with NTDs (spina bifida, anencephaly, encephalocoele) born in 2009 in 32 Malaysian hospitals in the Malaysian
National Neonatal Network. The prevalence of NTDs was 0.42 per 1000 live births, being highest among the indigenous people of
Sarawak (1.09 per 1000 live births) and lowest among Malaysians of Chinese descent (0.09 per 1000 live births). The most common
type of NTDs was anencephaly (0.19 per 1000 live births), followed by spina bifida (0.11 per 1000 live births) and encephalocoele (0.07
per 1000 live births). Majority of the infants with anencephaly (94.5%, n = 51), 45.8% (n = 11) with encephalocoele and 9.5% (n = 4)
with spina bifida died. The median duration of hospital stay was 4 (range: 0-161) days.

NTDs were common in Malaysia. Mortality was high. Long-term monitoring of NTD prevalence following folic fortification of food is
 reduced sensation in the lower body, legs and feet, leading to the possibility of burns and
pressure sores
 a degree of paralysis of the lower body and legs, causing walking difficulties or inability
to walk
 different degrees and types of urinary incontinence
 different degrees and types of faecal bowel incontinence
 some sexual dysfunction, particularly related to penile erection and ejaculation
 deformities of the spine – commonly scoliosis, where the spine bends into an ‘S’ shape
 cord tethering, where the spinal cord sticks to the area of the original lesion and becomes
 Arnold Chiari malformation – an abnormality of the back of the brain and upper spinal
cord which can cause disturbance of breathing, swallowing, eye movement and fluid
flow leading to hydrocephalus
 learning difficulties.

A population-based study of birth defects in Malaysia.

Thong MK1, Ho JJ, Khatijah NN.
Author information
Birth defects are one of the leading causes of paediatric disability and mortality in developed and developing
countries. Data on birth defects from population-based studies originating from developing countries are lacking.
One of the objectives of this study was to determine the epidemiology of major birth defects in births during the
perinatal period in Kinta district, Perak, Malaysia over a 14-month period, using a population-based birth defect
register. There were 253 babies with major birth defects in 17,720 births, giving an incidence of 14.3/1000 births,
a birth prevalence of 1 in 70. There were 80 babies with multiple birth defects and 173 with isolated birth defects.
The exact syndromic diagnosis of the babies with multiple birth defects could not be identified in 18 (22.5%)
babies. The main organ systems involved in the isolated birth defects were cardiovascular (13.8%), cleft lip and
palate (11.9%), clubfeet (9.1%), central nervous system (CNS) (including neural tube defects) (7.9%),
musculoskeletal (5.5%) and gastrointestinal systems (4.7%), and hydrops fetalis (4.3%). The babies with major
birth defects were associated with lower birth weights, premature deliveries, higher Caesarean section rates,
prolonged hospitalization and increased specialist care. Among the cohort of babies with major birth defects, the
mortality rate was 25.2% during the perinatal period. Mothers with affected babies were associated with
advanced maternal age, birth defects themselves or their relatives but not in their other offspring, and significantly
higher rates of previous abortions. The consanguinity rate of 2.4% was twice that of the control population. It is
concluded that a birth defects register is needed to monitor these developments and future interventional trials
are needed to reduce birth defects in Malaysia.

.Describe the pathophysiology underlying the spina bifida

.Describe the impact spina bifida has on the lives of those who suffer from it and
their families
.Describe the current limitations for preventing spina bifida including the problems
with oral supplement, antenatal screening and current treatment for the condition
.Consider the balance to be struck between the potential benefit to the pregnant
woman and the costs and risks of universal rice and flour fortification
.produce a conclusion that summarises your considered views on the subject