MATERNAL, INFANT,

AND CHILD HEALTH

DR. CECILLE O. MARTINEZ
 LEARNING OUTCOMES

• Integrate concepts, theories and principles of sciences and humanities in the

formulation and application of appropriate care during childbearing and childrearing
years.

• Apply appropriate nursing concepts and actions to at-risk / high risk / sick clients
during childbearing and childrearing years holistically and comprehensively.
Maternal health refers to the health of women during pregnancy, childbirth and the postnatal period.
Maternal, infant and child health refers to the health of women and her baby inside her womb
during pregnancy, childbirth and the postnatal period (newborn to infancy period) until the child have
grown up.
Maternal, infant and child health - Goal
• Improve the health and well-being of women, infants, children, and families.
Maternal, infant and child health - Overview
• Improving the well-being of mothers, infants, and children is an important public health goal.
• The well-being of mothers, infants, and children determines the health of the next generation and
can help predict future public health challenges for families, communities, and the health care
system.
• The objectives of the Maternal, Infant, and Child Health topic area address a wide range of
conditions, health behaviors, and health systems indicators that affect the health, wellness, and
quality of life of women, children, and families.
 WHY ARE MATERNAL, INFANT, AND CHILD HEALTH
IMPORTANT?
❑ Pregnancy can provide an opportunity to
identify existing health risks in women and to
➢ The risk of maternal and infant mortality and
prevent future health problems for women and
pregnancy-related complications can be reduced by
their children.
increasing access to quality preconception
These health risks may include: (before pregnancy), prenatal (during pregnancy),
and interconception (between pregnancies) care.
• Hypertension and heart disease
• Diabetes ➢ Moreover, healthy birth outcomes and early
• Depression identification and treatment of developmental delays
• Intimate partner violence and disabilities and other health conditions among
• Genetic conditions infants can prevent death or disability and enable
• Sexually transmitted diseases (STDs)
children to reach their full potential
• Tobacco, alcohol, and substance use
• Inadequate nutrition
• Unhealthy weight
Many factors can affect pregnancy and childbirth, including:
✓ Conditions in the places where people
• Preconception health status live, learn, work, and play affect a wide
• Age range of health risks and outcomes.
✓ Environmental and social factors
• Access to appropriate preconception, prenatal, and such as access to health care and early
interconception health care intervention services, educational,
• Poverty employment, and economic
opportunities, social support, and
Infant and child health are similarly influenced by availability of resources to meet daily
sociodemographic and behavioral factors, such as education, needs influence maternal health
family income, and breastfeeding, but are also linked to the behaviors and health status
physical and mental health of parents and caregivers.
 EMERGING ISSUES IN MATERNAL, INFANT, AND
CHILD HEALTH

“No woman should die giving life. Yet every year 2,400 women and girls
die in the Philippines from preventable causes related to pregnancy and
childbirth” (UNFPA) What is the current status of maternal
Emerging issues includes: health in the Philippines?
1. About half of all pregnancies were unplanned. ❑ Already before COVID-19, the
❑ Unintended pregnancy is associated with public health concerns such as
Philippines have an estimated 2,600
delayed initiation of prenatal care, poor maternal health, and preterm birth.
women dying every year due to
❑ In response, perinatal health initiatives have been aimed at improving the
health of women and infants before and during pregnancy through a complications from pregnancy or
variety of evidence-based interventions and attention to emerging public childbirth.
health concerns. ❑ The maternal mortality cases in 2020
2. Challenges of male and female fertility increase to up to 670 additional
deaths from the 2019 level (26 %
3. Childbearing practices continue to change
increase).
 EMERGING ISSUES IN MATERNAL, INFANT, AND
CHILD HEALTH

❖ The COVID-19 pandemic has disrupted family planning and maternal and newborn health services globally, and in the
Philippines to these indirect effects significantly increase the annual maternal deaths and unintended pregnancies for 2020
compared with the pre-COVID years [University of the Philippines Population Institute (UPPI) and the United Nations
Population Fund (UNFPA)].
❖ The Philippines unfortunately showed one of the highest rates of adolescent fertility in Asia prior to COVID-19, described as
a 'national social emergency' last year.
❖ 2020 end up seeing 18,000 more Filipino teenage girls getting pregnant because of the indirect effects of COVID-19,
compared to 2019.
❖ Intimate partner violence also increased, because women and girls were stuck with the abusers at home.
❖ Although many of such gender-based violence cases were unreported, the study by UPPI and UNFRA estimated a 20%
increase in intimate partner violence, physical or sexual, in 2020 from 2019.
• In 2020, the global maternal mortality ratio was 152 deaths per 100,000 live births, up from 151 deaths per 100,000 live
births in 2019.
 EMERGING ISSUES IN MATERNAL, INFANT, AND
CHILD HEALTH

❖ According to data from the Philippines Department of Health the top 4 causes of maternal mortality are labor
complications, pregnancy-related hypertension, postpartum hemorrhage, and unsafe abortion.
❖ The areas of the Philippines where these causes of death and morbidity are the highest are rural, isolated
regions/communities that exist far from the country’s capital and urban centers, including ARMM,
SOCCKSARGEN, MIMAROPA and the Cagayan Valley.

❖ Similar trends can be found for child health statistics as well, given that the areas plagued by these health
outcomes are characterized by poor access to health care services, poverty, and geographic isolation, among
other social determinants.
❖ Specifically, maternal mortality and morbidity are associated with poor birthing practices including home births
or births without a skilled birth attendant, and adequate perinatal health care by a health provider- all of which
are closely tied to wealth, socioeconomic status and the urban-rural divide.
 EMERGING ISSUES IN MATERNAL, INFANT, AND
CHILD HEALTH

• According to UNICEF
• 160 women for every 100,000 births die.
• Roughly over 11 women die every day.
• 7 out of 10 deaths occur at childbirth or within a
day after delivery.
• 4 out of 10 deaths are due to complications and
widespread infections
• For every death, 40 more women get sick.
• 8 out of 10 births in rural areas are delivered
outside a health facility
 EMERGING ISSUES IN MATERNAL, INFANT, AND
CHILD HEALTH

The Responsible Parenthood and Reproductive Health Act (RH Bill)

• In 2012 the decisive and controversial bill which assured insurance coverage of contraceptives
for the poorest of Filipino women was passed into law.

• The RH bill was opposed with greatest force by leaders of the Catholic Church in the Philippines
who equated birth control to abortion (which is illegal in the country) and claimed it would The Responsible Parenthood and
encourage the immoral act of premarital sex. Reproductive Health Act of 2012,
known as the RH Law, is a
• The majority Catholic country was very divided by the issue which had been stalled by the
groundbreaking law that guarantees
Church for over a decade. (Church leaders believe that the RH bill would only promote the use of
universal and free access to nearly all
abortifacient drugs.)
modern contraceptives for all
• While birth control is easily accessible for those in urban areas with financial means, some rural citizens, including impoverished
areas even banned condoms and other contraceptives from being sold within the town. communities, at government health
centers
• Some estimates put the unintended pregnancy rate in the Philippines at around 50%, which
could be greatly reduced if women were empowered to make reproductive decisions for
themselves and their families (Whaly, 2012).
• Those in favor of the Bill cite the conventional argument that slower population growth facilitates
economic growth, poverty reduction, and preservation of the environment
Points to Ponder
• MATERNAL MORTALITY refers to deaths due to complications from pregnancy or childbirth.
• MATERNAL MORTALITY RATE is the number of resident maternal deaths within 42 days of
pregnancy termination due to complications of pregnancy, childbirth, and the puerperium in a
specified geographic area (country, state, county, etc.) divided by total resident live births for the
same geographic area for a specified time period, usually a calendar year, multiplied by 100,000
• Calculation: (Number of resident maternal deaths/Number of resident live births) x 100,000
Number of Resident Maternal Death X 100,000
Number of Resident Live Births

Example:
84 maternal deaths in 2021 among municipal residents
130,000 live births in 2021 to municipal residents

84/130,000 x 100,000 = 64.6 maternal deaths per 100,000 live births in 2021 among municipal residents
• A maternal mortality rate is considered a primary and important indictor of a geographic area’s
(country, state, county) overall health status or quality of life.
• A maternal death is defined by the World Health Organization as: The death of a woman while pregnant or
within 42 days of termination of pregnancy, irrespective of the duration and the site of the pregnancy, from any
cause related to or aggravated by the pregnancy or its management, but not from accidental or incidental causes.
• The maternal mortality rate is sometimes referred to as a maternal mortality ratio as the rate is not
calculated using an accurate count of all pregnancies that can result in a maternal death, with stillbirths not
included and infants in multiple birth sets over represented in live birth figures.
• Maternal deaths more than 42 days but less than one year after termination of the pregnancy are termed late
maternal deaths.
• Deaths from any cause during pregnancy or within one calendar year of delivery or pregnancy termination,
regardless of the duration or anatomical site of the pregnancy, are termed pregnancy-associated deaths.
• Pregnancy-associated deaths include not only deaths commonly associated with pregnancy such as
hemorrhage, pregnancy-induced hypertension, and embolism—which are captured in the WHO definition—but
also deaths not traditionally considered to be related to pregnancy such as accidents, homicide, and suicide.
• Genetics is the scientific
study of genes and
heredity—of how certain
qualities or traits are passed
from parents to offspring as
a result of changes in DNA
sequence. ...
• All of an organism's genetic
material, including its genes
and other elements that
control the activity of those
genes, is its genome.
Genetic Disorders
▪ Genetic disorders can happen for many reasons.
▪ Genetic disorders often are described in terms of the chromosome that contains
the gene that is changed in people who have the disorder.
▪ If the gene is on one of the first 22 pairs of chromosomes, called the autosomes,
the genetic disorder is called an autosomal condition.
▪ If the gene is on the X chromosome, the disorder is called X-linked.
▪ Genetic disorders also are grouped by how they run in families.
▪ Disorders can be dominant or recessive, depending on how they cause
conditions and how they run in families.
Dominant
✓ Dominant diseases can be caused by only one copy of a gene having
a DNA mutation.
✓ If one parent has the disease, each child has a 50% chance of inheriting the
mutated gene.
Recessive
✓ For recessive diseases, both copies of a gene must have a DNA mutation in
order to get one of these diseases.
✓ If both parents have one copy of the mutated gene, each child has a 25%
chance of having the disease, even though neither parent has it.
✓ In such cases, each parent is called a carrier of the disease. They can pass the
disease on to their children, but do not have the disease themselves.
Single Gene Disorders
• Some genetic diseases are caused by a DNA mutation in one of a person’s genes.
• For example, suppose part of a gene usually has the sequence TAC.
• A mutation can change the sequence to TTC in some people.
• This change in sequence can change the way that the gene works, for example by changing
the protein that is made.
• Mutations can be passed down to a child from his or her parents. Or, they can happen for
the first time in the sperm or egg, so that the child will have the mutation but the parents
will not.
• Single gene disorders can be autosomal or X-linked.
• For example, sickle cell disease is an autosomal single gene disorder.
• It is caused by a mutation in a gene found on chromosome 11.
• Sickle cell disease causes anemia and other complications.

• Fragile X syndrome, on the other hand, is an X-linked single gene disorder.

• It is caused by a change in a gene on the X chromosome.
• It is the most commonly known cause of intellectual disability and developmental disability that
can be inherited (passed from one generation to the next).
1. Different Number of Chromosomes
• People usually have 23 pairs of chromosomes. But, sometimes a
person is born with a different number.
• Having an extra chromosome is called trisomy.
• Missing a chromosome is called monosomy.
• For example, people with Down syndrome have an extra copy of
chromosome 21.
• This extra copy changes the body’s and brain’s normal
development and causes intellectual and physical problems for
the person.
• Some disorders are caused by having a different number of sex
chromosomes.
• For example, people with Turner syndrome usually have only one
sex chromosome, an X.
• Women with Turner syndrome can have problems with growth
and heart defects.
2. Changes in Chromosomes
• Sometimes chromosomes are incomplete or shaped
differently than usual.
• Missing a small part of a chromosome is called a deletion.
• A translocation is when part of one chromosome has moved
to another chromosome.
• An inversion is when part of a chromosome has been flipped
over.
• For example, people with Williams syndrome are missing a
small part of chromosome 7.
• This deletion can result in intellectual disability and a
distinctive facial appearance and personality.
3. Complex Conditions
• A complex disease is caused by both genetic changes
and environmental factors.
• Complex diseases also are called multifactorial.
• Most chronic diseases, such as heart disease, cancer, and
diabetes, are complex conditions.
• For example, while some cases of cancer are associated
with inherited genetic changes, for example, Lynch
syndrome and hereditary breast and ovarian cancer, the
majority most likely are caused by changes in several
genes acting together with environmental exposures.
• Genetic counseling gives information about how
genetic conditions might affect the patient and her
family.
• It is a communication process, which aims to help
individuals, couples and families understand and
adapt to the medical, psychological, familial and
reproductive implications of the genetic
contribution to specific health conditions.
• The genetic counselor or other healthcare
professional collects personal and family health
history to determine how likely the patient and her
family member has a genetic condition.
• Based on this information, the genetic counselor
can help decide whether a genetic test might be
right for the patient and her family.
Reasons for Genetic Counseling
1. Planning for Pregnancy: Genetic counseling before
the woman become pregnant can address concerns
about factors that might affect her baby during
infancy or childhood or her ability to become
pregnant, including:
• Genetic conditions that run in her family or
her partner’s family
• History of infertility, multiple miscarriages, or
stillbirth
• Previous pregnancy or child affected by
a birth defect or genetic condition
• Assisted Reproductive Technology
(ART) options
• Reasons for Genetic Counseling
3. Caring for Children: Genetic counseling
2. During Pregnancy: Genetic counseling while the woman is pregnant can
can address concerns if the child is
address certain tests that may be done during her pregnancy, any detected
problems, or conditions that might affect her baby during infancy or
showing signs and symptoms of a
childhood, including: disorder that might be genetic, including
• Abnormal newborn
• History of infertility, multiple miscarriages, or stillbirth
screening results
• Previous pregnancy or child affected by a birth defect or • Birth defects
genetic condition
• Intellectual
• Abnormal test results, such as a blood test, disability or developmental
ultrasound, Chorionic Villus Sampling (CVS), or amniocentesis disabilities
• Maternal infections, such as Cytomegalovirus (CMV), and other • Autism spectrum disorders (ASD)
exposures such as medicines, drugs, chemicals, and x-rays • Vision or hearing problems
• Genetic screening that is recommended for all pregnant
women, which includes cystic fibrosis, sickle cell disease, and
any conditions that run in her family or her partner’s family
• Reasons for Genetic Counseling
4. Managing the Woman’s Health:
▪ Genetic counseling for adults includes specialty areas
such as cardiovascular, psychiatric, and cancer.
▪ Genetic counseling can be helpful if the woman have
symptoms of a condition or have a family history of a
condition that makes her more likely to be affected
with that condition, including:
• Hereditary breast and ovarian cancer
(HBOC) syndrome
• Lynch syndrome (hereditary colorectal and other
cancers)
• Familial hypercholesterolemia
• Muscular dystrophy and other muscle diseases
• Inherited movement disorders such as Huntington’s
disease hypercholesterolemia
• Inherited blood disorders such as sickle cell disease
▪ Birth defects are structural changes present at birth
that can affect almost any part or parts of the body ▪ A birth defect can be found before birth, at birth, or
(e.g., heart, brain, foot). any time after birth.
▪ They may affect how the body looks, works, or both. ▪ Most birth defects are found within the first year of

▪ Birth defects can vary from mild to severe. life.

▪ Some birth defects (such as cleft lip) are easy to see,
▪ The well-being of each child affected with a birth
defect depends mostly on which organ or body part is but others (such as heart defects or hearing loss) are
involved and how much it is affected. found using special tests, such as echocardiograms
▪ Depending on the severity of the defect and what (an ultrasound picture of the heart), x-rays or hearing
body part is affected, the expected lifespan of a person tests.
with a birth defect may or may not be affected.
Causes
▪ For some birth defects, like fetal alcohol syndrome,
▪ Birth defects can occur during any stage of
pregnancy. the cause is alcoholism of the mother.
▪ But for most birth defects, unknown cause or
▪ Most birth defects occur in the first 3 months of
pregnancy, when the organs of the baby are caused by a complex mix of factors.
forming. ▪ These factors include the genes (information
▪ This is a very important stage of development. inherited from parents), behaviors, and things in
However, some birth defects occur later in the environment.
pregnancy.
▪ During the last six months of pregnancy, the tissues
and organs continue to grow and develop.
▪ Having one or more of risks below can have pregnancy affected by a birth defect.
• Smoking, drinking alcohol, or taking certain drugs during pregnancy.
• Having certain medical conditions, such as being obese or having uncontrolled diabetes before and
during pregnancy.
• Taking certain medications, such as isotretinoin (a drug used to treat severe acne).
• Having someone in the family with a birth defect.
• Having certain infections during pregnancy such as cytomegalovirus.
• Experiencing fever greater than 101oF or having an elevated body temperature due to heat exposure.
• Being an older mother, as the risk of chromosomal abnormalities increases with age.

▪ Also, women can have a baby born with a birth defect even when they don’t have any of these risks.
Anophthalmia and microphthalmia are birth defects of a baby’s
eye(s).
• Anophthalmia is a birth defect where a baby is born without
one or both eyes.
• Microphthalmia is a birth defect in which one or both eyes did
not develop fully, so they are small.
• Anophthalmia and microphthalmia develop during pregnancy and
can occur alone, with other birth defects, or as part of a syndrome.
• Anophthalmia and microphthalmia often result in blindness or
limited vision.
 Diagnosis
▪ Anophthalmia and microphthalmia
can either be diagnosed during
▪ The causes of anophthalmia and microphthalmia among most infants pregnancy or after birth.
are unknown. ▪ During pregnancy, doctors can often
▪ Some babies have anophthalmia or microphthalmia because of a identify anophthalmia and
microphthalmia through an
change in their genes or chromosomes.
ultrasound or a CT scan (special x-
▪ Anophthalmia and microphthalmia can also be caused by taking ray test) and sometimes with certain
certain medicines, like isotretinoin (Accutane®) or thalidomide, genetic testing.
during pregnancy. ▪ After birth, a doctor can identify
anophthalmia and microphthalmia by
▪ These medicines can lead to a pattern of birth defects, which can examining the baby.
include anophthalmia or microphthalmia. ▪ A doctor will also perform a
thorough physical exam to look for
▪ These defects might also be caused by a combination of genes and
any other birth defects that may be
other factors, such as the things the mother comes in contact within
present.
the environment or what the mother eats or drinks, or certain
medicines she uses during pregnancy.
 ▪ A team of eye specialists should frequently
monitor children with these conditions
early in life.
▪ If other conditions arise, like
• There is no treatment available that will create a new eye or that will restore a cataract or detached retina, children
complete vision for those affected by anophthalmia or microphthalmia. might need surgery to repair these other
conditions.
• A baby born with one of these conditions should be seen by a team of special
▪ If anophthalmia or microphthalmia affects
eye doctors:
only one eye, the ophthalmologist can
• An ophthalmologist, a doctor specially trained to care for eyes
suggest ways to protect and preserve
• An ocularist, a healthcare provider who is specially trained in making and fitting sight in the healthy eye.
prosthetic eyes
▪ Depending on the severity of
• An oculoplastic surgeon, a doctor who specializes in surgery for the eye and eye anophthalmia and microphthalmia,
socket children might need surgery.
• The eye sockets are critical for a baby’s face to grow and develop properly.
• If a baby has one of these conditions, the bones that shape the eye socket
may not grow properly.
• Babies can be fitted with a plastic structure called a conformer that can help
the eye socket and bones to grow properly.
• As babies get older, these devices will need to be enlarged to help expand the
eye socket.
• Also, as children age, they can be fitted for an artificial eye.

• Anotia and microtia are birth defects of a baby’s ear.
• Anotia happens when the external ear (the part of the ear that can be
seen) is missing completely.
• Microtia happens when the external ear is small and not formed
properly.
• Anotia/microtia usually happens during the first few weeks of pregnancy.
• These defects can vary from being barely noticeable to being a major
problem with how the ear formed.
• Most of the time, anotia/microtia affects how the baby’s ear looks, but
usually the parts of the ear inside the head (the inner ear) are not
affected. However, some babies with this defect also will have a narrow
or missing ear canal.
Types of Microtia
▪ There are four types of microtia, ranging
from Type 1 to Type 4.
▪ Type 1 is the mildest form, where the ear
retains its normal shape, but is smaller
than usual.
▪ Type 4 is the most severe type where all
external ear structures are missing —
anotia. This condition can affect one or
both ears. However, it is more common for
babies to have only one affected ear
 ➢ Recently, CDC reported on important findings
• The causes of anotia/microtia among most infants are unknown.
• Some babies have anotia/microtia because of a change in their
genes.
• In some cases, anotia/microtia occurs because of an
abnormality in a single gene, which can cause a genetic
syndrome.
• Another known cause for anotia/microtia is taking a medicine
called isotretinoin (Accutane®) during pregnancy.
• This medicine can lead to a pattern of birth defects, which often
includes anotia/microtia.
• These defects also are thought to be caused by a combination
of genes and other factors, such as the things the mother
comes in contact within the environment or what the mother
eats or drinks or certain medicines she uses during pregnancy.
about some factors that increase the risk of
having a baby with anotia or microtia:
➢ Diabetes ― Women who have diabetes
before they get pregnant have been
shown to be more at risk for having a
baby with anotia/microtia, compared to
women who did not have diabetes.
➢ Maternal diet—Pregnant women who eat
a diet lower in carbohydrates and folic
acid might have an increased risk for
having a baby with microtia, compared to
all other pregnant women.

Diagnosis
• Anotia/microtia are visible at birth.
Healthcare provider / doctor can notice
the problem by just examining the
baby.
• A CT or CAT scan (special x-ray test) of
the baby’s ear can provide a detailed
picture of the ear. This will help the
doctor see if the bones or other
structures in the ear are affected.
• A doctor will also perform a thorough
physical exam to look for any other
birth defects that may be present.
Treatment
▪ Treatment for babies with anotia/microtia depends on the type or severity of
the condition.
▪ A healthcare provider or hearing specialist called an audiologist will test the
baby’s hearing to determine any hearing loss in the ear(s) with the defect.
▪ Even a hearing loss in one ear can hurt school performance. All treatment
options should be discussed, and early action may provide better results.
▪ Hearing aids may be used to improve a child’s hearing ability and to help
with speech development.
✓ Surgery is used to reconstruct the external ear. The timing of surgery
depends on the severity of the defect and the child’s age. Surgery is usually
performed between 4 and 10 years of age. Further treatment may be
necessary if the child has other birth defects present.
✓ In the absence of other conditions, children with anotia/microtia can develop
normally and lead healthy lives.
✓ Some children with anotia/microtia may have issues with self-esteem if they
are concerned with visible differences between themselves and other
children.
✓ Parent-to-parent support groups can prove to be useful for new families of
babies with birth defects of the head and face, including anotia/microtia.
What is Cleft Lip?
• The lip forms between the fourth and seventh weeks of pregnancy. As a
baby develops during pregnancy, body tissue and special cells from
each side of the head grow toward the center of the face and join
together to make the face. This joining of tissue forms the facial
features, like the lips and mouth.
• A cleft lip happens if the tissue that makes up the lip does not join
completely before birth.
• This results in an opening in the upper lip.
• The opening in the lip can be a small slit or it can be a large opening
that goes through the lip into the nose.
• A cleft lip can be on one or both sides of the lip or in the middle of the
lip, which occurs very rarely.
• Children with a cleft lip also can have a cleft palate.
What is Cleft Palate?
• The roof of the mouth (palate) is formed between the sixth and ninth
weeks of pregnancy.
• A cleft palate happens if the tissue that makes up the roof of the
mouth does not join together completely during pregnancy.
• For some babies, both the front and back parts of the palate are
open.
• For other babies, only part of the palate is open.
Other Problems
• Children with a cleft lip with or without a cleft palate or a cleft palate alone
often have problems with feeding and speaking clearly and can have ear
infections.
• They also might have hearing problems and problems with their teeth.
Causes and Risk Factors
• The causes of orofacial clefts among most infants are unknown.

• Some children have a cleft lip or cleft palate because of changes in their genes.
• Cleft lip and cleft palate are thought to be caused by a combination of genes and other factors, such as
things the mother comes in contact within her environment, or what the mother eats or drinks, or certain
medications she uses during pregnancy.
• Recently, CDC reported on important findings from research studies about some factors that increase the chance of having
a baby with an orofacial cleft:
• Smoking―Women who smoke during pregnancy are more likely to have a baby with an orofacial cleft than women
who do not smoke.
• Diabetes―Women with diabetes diagnosed before pregnancy have an increased risk of having a child with a cleft lip
with or without cleft palate, compared to women who did not have diabetes.
• Use of certain medicines―Women who used certain medicines to treat epilepsy, such as topiramate or valproic acid,
during the first trimester (the first 3 months) of pregnancy have an increased risk of having a baby with cleft lip with
or without cleft palate, compared to women who didn’t take these medicines.
Diagnosis
• Orofacial clefts, especially cleft lip with or without cleft palate, can be diagnosed during pregnancy by a routine ultrasound.
• They can also be diagnosed after the baby is born, especially cleft palate. However, sometimes certain types of cleft palate (for example,
submucous cleft palate and bifid uvula) might not be diagnosed until later in life.
Management and Treatment
• Services and treatment for children with orofacial clefts can vary depending on the severity of the cleft; the child’s age and needs; and the
presence of associated syndromes or other birth defects, or both.
• Surgery to repair a cleft lip usually occurs in the first few months of life and is recommended within the first 12 months of life.
• Surgery to repair a cleft palate is recommended within the first 18 months of life or earlier if possible.
• Many children will need additional surgical procedures as they get older.
• Surgical repair can improve the look and appearance of a child’s face and might also improve breathing, hearing, and speech and language
development.
• Children born with orofacial clefts might need other types of treatments and services, such as special dental or orthodontic care or speech
therapy.
• With treatment, most children with orofacial clefts do well and lead a healthy life.
• Some children with orofacial clefts may have issues with self-esteem if they are concerned with visible differences between themselves and other
children.
• Parent-to-parent support groups can prove to be useful for families of babies with birth defects of the head and face, such as orofacial clefts.
• Craniosynostosis is a birth defect in which the bones in a baby’s skull join together too
early.
• This happens before the baby’s brain is fully formed.
• As the baby’s brain grows, the skull can become more misshapen.
• The spaces between a typical baby’s skull bones are filled with flexible material and called
sutures. These sutures allow the skull to grow as the baby’s brain grows.
• Around two years of age, a child’s skull bones begin to join together because the sutures
become bone. When this occurs, the suture is said to “close.”
• In a baby with craniosynostosis, one or more of the sutures closes too early.
• This can limit or slow the growth of the baby’s brain.
• When a suture closes and the skull bones join together too soon, the baby’s head will stop
growing in only that part of the skull.
• In the other parts of the skull where the sutures have not joined together, the baby’s head
will continue to grow.
• When that happens, the skull will have an abnormal shape, although the brain inside the
skull has grown to its usual size.
• Sometimes, though, more than one suture closes too early. In these instances, the brain
might not have enough room to grow to its usual size. This can lead to a build-up of
pressure inside the skull.
• Sagittal synostosis– The sagittal suture runs along the top of the
head, from the baby’s soft spot near the front of the head to the
back of the head. When this suture closes too early, the baby’s
head will grow long and narrow (scaphocephaly). It is the most
common type of craniosynostosis.
• Coronal synostosis – The right and left coronal sutures run from
each ear to the sagittal suture at the top of the head. When one
of these sutures closes too early, the baby may have a flattened
forehead on the side of the skull that closed early (anterior
plagiocephaly). The baby’s eye socket on that side might also be
raised up and his or her nose could be pulled toward that side.
This is the second most common type of craniosynostosis.
• Bicoronal synostosis – This type of craniosynostosis occurs when the
coronal sutures on both sides of the baby’s head close too early. In
this case, the baby’s head will grow broad and short
(brachycephaly).
• Lambdoid synostosis – The lambdoid suture runs along the backside
of the head. If this suture closes too early, the baby’s head may be
flattened on the back side (posterior plagiocephaly). This is one of
the rarest types of craniosynostosis.
• Metopic synostosis – The metopic suture runs from the baby’s nose
to the sagittal suture at the top of the head. If this suture closes too
early, the top of the baby’s head shape may look triangular, meaning
narrow in the front and broad in the back (trigonocephaly). This is
one of the rarest types of craniosynostosis.

Other Problems
• Many of the problems a baby can have depend on:
• Which sutures closed early
• When the sutures closed (was it before or after birth and at what
age)
• Whether or not the brain has room to grow
• Sometimes, if the condition is not treated, the build-up of pressure in
the baby’s skull can lead to problems, such as blindness, seizures, or
brain damage.

Causes and Risk Factors
• The causes of craniosynostosis in most infants are
unknown.
• Some babies have a craniosynostosis because of
changes in their genes.
• In some cases, craniosynostosis occurs because of an
abnormality in a single gene, which can cause a genetic
syndrome.
• However, in most cases, craniosynostosis is thought to
be caused by a combination of genes and other factors,
such as things the mother comes in contact within her
environment, or what the mother eats or drinks, or
certain medications she uses during pregnancy.
Recently, CDC reported on important findings
from research studies about some factors that
increase the chance of having a baby with
craniosynostosis:
▪ Maternal thyroid disease ― Women with
thyroid disease or who are treated for thyroid
disease while they are pregnant have a higher
chance of having an infant with
craniosynostosis, compared to women who
don’t have thyroid disease.2
▪ Certain medications ― Women who report
using clomiphene citrate (a fertility medication)
just before or early in pregnancy are more
likely to have a baby with craniosynostosis,
compared to women who didn’t take this
medicine.

Diagnosis
• Craniosynostosis usually is diagnosed soon after a baby is
born. Sometimes, it is diagnosed later in life.
• Usually, the first sign of craniosynostosis is an abnormally
shaped skull. Other signs may include:
• No “soft spot” on the baby’s skull
• A raised firm edge where the sutures closed early
• Slow growth or no growth in the baby’s head size over time
• Doctors can identify craniosynostosis during a physical
exam. A doctor will feel the baby’s head for hard edges
along the sutures and unusual soft spots.
• The doctor also will look for any problems with the shape
of the baby’s face. If he or she suspects the baby might
have craniosynostosis, the doctor usually requests one or
more tests to help confirm the diagnosis.
• For example, a special x-ray test, such as a CT or CAT scan,
can show the details of the skull and brain, whether certain
sutures are closed, and how the brain is growing.
Treatments
▪ Many types of craniosynostosis require surgery.
▪ The surgical procedure is meant to relieve pressure on the
brain, correct the craniosynostosis, and allow the brain to
grow properly.
▪ When needed, a surgical procedure is usually performed
during the first year of life.
▪ But the timing of surgery depends on which sutures are
closed and whether the baby has one of the genetic
syndromes that can cause craniosynostosis.
▪ Babies with very mild craniosynostosis might not need
surgery.
▪ As the baby gets older and grows hair, the shape of the
skull can become less noticeable.
▪ Sometimes, special medical helmets can be used to help
mold the baby’s skull into a more regular shape.
▪ Each baby born with craniosynostosis is different, and the
condition can range from mild to severe.
▪ Most babies with craniosynostosis are otherwise healthy.
▪ Some children, however, have developmental delays or
intellectual disabilities
• Neural tube defects are severe birth defects of the brain
and spine.
• The two most common NTDs are spina bifida (a spinal cord
defect) and anencephaly (a brain defect).
▪ Anencephaly is a serious birth defect in which a baby is born without
parts of the brain and skull.
▪ It is a type of neural tube defect (NTD). As the neural tube forms and
closes, it helps form the baby’s brain and skull (upper part of the neural
tube), spinal cord, and back bones (lower part of the neural tube).
▪ Anencephaly happens if the upper part of the neural tube does not close
all the way.
▪ This often results in a baby being born without the front part of the brain
(forebrain) and the thinking and coordinating part of the brain (cerebrum).
The remaining parts of the brain are often not covered by bone or skin.
 Diagnosis
▪ Anencephaly can be diagnosed
during pregnancy or after the baby is
born.
Causes and Prevention During Pregnancy
• The causes of anencephaly among most infants are unknown. ✓ During pregnancy, there are
screening tests (prenatal tests) to
• Some babies have anencephaly because of a change in their genes or check for birth defects and other
chromosomes. conditions.
✓ Anencephaly would result in an
• Anencephaly might also be caused by a combination of genes and other abnormal result on a blood or serum
factors, such as the things the mother comes in contact within the environment screening test, or it might be seen
or what the mother eats or drinks, or certain medicines she uses during during an ultrasound (which creates
pregnancy. pictures of the body).
Prevention After the Baby is Born
✓ In some cases, anencephaly might not
• Getting enough folic acid before and during early pregnancy can help prevent be diagnosed until after the baby is
neural tube defects, such as anencephaly. born.
✓ Anencephaly is immediately seen at
• If pregnant or could get pregnant, mother should take 400 micrograms (mcg)
birth.
of folic acid every day. If they have already had a pregnancy affected by an
Treatments
NTD, they can speak with the doctor about taking a higher dose of folic acid ❑ There is no known cure or standard
before pregnancy and during early pregnancy. treatment for anencephaly.
• Understanding the factors that are more common among babies with a birth ❑ Almost all babies born with
defect will help us learn more about the causes. anencephaly will die shortly after
birth.
▪ Encephalocele is a rare type of birth defect of the neural tube that affects
the brain.
▪ The neural tube is a narrow channel that folds and closes during the third
and fourth weeks of pregnancy to form the brain and spinal cord.
▪ Encephalocele is a sac-like protrusion or projection of the brain and the
membranes that cover it through an opening in the skull.
▪ Encephalocele happens when the neural tube does not close completely
during pregnancy.
▪ The result is an opening anywhere along the center of the skull from the
nose to the back of the neck, but most often at the back of the head
(pictured), at the top of the head, or between the forehead and the nose.
 Diagnosis
▪ Usually, encephaloceles are found right
after birth, but sometimes a small
encephalocele in the nose and forehead
Causes
region can go undetected.
• Although the exact cause of encephalocele is unknown, scientists ▪ An encephalocele at the back of the skull
believe that many factors are involved. is more likely to cause nervous system
problems, as well as other brain and face
• There is a genetic (inherited) component to the condition, meaning it defects.
often occurs in families that have family members with other defects of ▪ Signs of encephalocele can include
the neural tube: spina bifida and anencephaly. •Buildup of too much fluid in the brain,
•Complete loss of strength in the arms
• Some researchers also believe that certain environmental exposures and legs,
before or during pregnancy might be causes, but more research is •An unusually small head,
needed. •Uncoordinated use of muscles needed
for movement, such as those involved in
CDC works with many other researchers to study factors that can walking and reaching,
•Developmental delay,
• Increase the risk of having a baby with encephalocele, or •Intellectual disability,
•Vision problems,
• Impact the health outcomes of babies with encephalocele.
•Delayed growth, and
Several factors appear to lead to lower survival rates for infants with •Seizures.
encephalocele, including preterm (early) birth, low birthweight, having
multiple birth defects
Treatment
• Encephalocele is treated with surgery to place the protruding
part of the brain and the membranes covering it back into
the skull and close the opening in the skull.
• However, neurologic problems caused by the encephalocele
will still be present.
• Long-term treatment depends on the child’s condition.
• Multiple surgeries may be needed, depending on the location
of the encephalocele and the parts of the head and face that
were affected by the encephalocele.
• 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.
• When the neural tube doesn’t close all the way, the backbone that
protects the spinal cord doesn’t form and close as it should.
• This often results in damage to the spinal cord and nerves.
• Spina bifida might cause physical and intellectual 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.
• 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.
• When the neural tube doesn’t close all the way, the backbone that
protects the spinal cord doesn’t form and close as it should.
• This often results in damage to the spinal cord and nerves.
• Spina bifida might cause physical and intellectual 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.

Cause
• Unknown
The three most common types of spina bifida are: Spina bifida occulta, meningocele, myelomeningocele
1. Myelomeningocele
▪ 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.
II. Meningocele
• 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.
III. Spina Bifida Occulta
• 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.
Diagnosis
• 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.
• 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 – 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.
References

• Centers for Disease Control and Prevention. Recommendations to improve preconception health and health care—United States: A report of the CDC/ATSDR Preconception Care Work Group and the Select Panel on Preconception Care. MMWR. 2006;55(RR-06):1–
23.

• Centers for Disease Control and Prevention. Newborn screening for cystic fibrosis: evaluation of benefits and risks and recommendations for state newborn screening programs. MMWR. 2004;53(RR-13):1–36.

• Centers for Disease Control and Prevention. Identifying infants with hearing loss—United States, 1999–2007. MMWR. 2010;59(8):220–23.

• Centers for Disease Control and Prevention. Update on Overall Prevalence of Major Birth Defects–Atlanta, Georgia, 1978-2005. MMWR Morb Mortal Wkly Rep. 2008;57(1):1-5.

• Mai CT, Isenburg JL, Canfield MA, Meyer RE, Correa A, Alverson CJ, Lupo PJ, Riehle‐Colarusso T, Cho SJ, Aggarwal D, Kirby RS. National population‐based estimates for major birth defects, 2010–2014. Birth Defects Research. 2019; 111(18): 1420-1435.

• Mai CT, Isenburg JL, Canfield MA, Meyer RE, Correa A, Alverson CJ, Lupo PJ, Riehle‐Colarusso T, Cho SJ, Aggarwal D, Kirby RS. National population‐based estimates for major birth defects, 2010–2014. Birth Defects Research. 2019; 111(18): 1420-1435

• Little J, Cardy A, Munger RG. Tobacco smoking and oral clefts: a meta-analysis. Bull World Health Organ. 2004;82:213-18

• Honein MA, Rasmussen SA, Reefhuis J, Romitti P, Lammer EJ, Sun L, Correa A. Maternal smoking, environmental tobacco smoke, and the risk of oral clefts. Epidemiology 2007;18:226–33

• Yazdy MM, Autry AR, Honein MA, Frias JL. Use of special education services by children with orofacial clefts. Birth Defects Research (Part A): Clinical and Molecular Teratology 2008;82:147-54.

• Correa A, Gilboa SM, Besser LM, Botto LD, Moore CA, Hobbs CA, Cleves MA, Riehle-Colarusso TJ, Waller DK, Reece EA. Diabetes mellitus and birth defects. American Journal of Obstetrics and Gynecology 2008;199:237.e1-9.

• Margulis AV, Mitchell AA, Gilboa SM, Werler MM, Glynn RJ, Hernandez-Diaz S, National Birth Defects Prevention Study. Use of topiramate in pregnancy and risk of oral clefts. American Journal of Obstetrics and Gynecology 2012;207:405.e1-e7.

• Werler MM, Ahrens KA, Bosco JL, Michell AA, Anderka MT, Gilboa SM, Holmes LB, National Birth Defects Prevention Study. Use of antiepileptic medications in pregnancy in relation to risks of birth defects. Annals of Epidemiology 2011;21:842-50

• American Cleft Palate-Craniofacial Association. Parameters for evaluation and treatment of patients with cleft lip/palate or other craniofacial anomalies. Revised edition, Nov 2009. Chapel Hill, NC. P. 1-34. https://acpa-cpf.org/wp-
content/uploads/2017/06/Parameters_Rev_2009_9_.pdf external icon

• Boulet SL, Rasmussen SA, Honein MA. A population-based study of craniosynostosis in metropolitan Atlanta, 1989-2003. Am J Med Genet Part A. 2008;146A:984–991.

• Rasmussen SA, Yazdy MM, Carmichael SL, Jamieson DJ, Canfield MA, Honein MA. Maternal thyroid disease as a risk factor for craniosynostosis. Obstet Gynecol. 2007;110:369-377.

• Reefhuis J, Honein MA, Schieve LA, Rasmussen SA, and the National Birth Defects Prevention Study. Use of clomiphene citrate and birth defects, National Birth Defects Prevention Study, 1997–2005. Hum Reprod. 2011;26:451–457.