NEWBORN

SCREENING
BMLS 1-C Group 2
 Newborn screening programs test
babies for disorders that are often not
apparent at birth. Such disorders may
be inherited, infectious, or caused by a
medical problem of the mother. If these
disorders are not detected and treated
soon after birth, they may cause mental
retardation, severe illness, or premature
death.
HOW IS NEWBORN SCREENING DONE?
 Newborn Screening usually begins with a
blood test 24 to 48 hours after a baby is
born, while he or she is still in the hospital.

 In some states, a second blood test is

performed at a checkup appointment with
the baby’s pediatrician when the baby is 1 to
2 weeks old.
 WHAT
TESTS ARE
OFFERED?
• It is a metabolic disorder.
• Babies with PKU are missing an enzyme that's needed to process
phenylalanine.
• If too much phenylalanine builds up, it damages brain tissue and
can cause developmental delay.
• When PKU is detected early, feeding an infant a special formula
low in phenylalanine can prevent intellectual disability.
• A low-phenylalanine diet is needed throughout childhood and
adolescence and sometimes into adult life. This diet cuts out all
high-protein foods, so people .
• With PKU often need to take a special artificial
formula as a nutritional substitute.
 The thyroid, a gland at the front of the neck, releases
special chemicals called hormones that control
metabolism and growth. These hormones control how
fast the body uses up energy and are key factors in
helping kids grow.

 Babies with congenital hypothyroidism do not have

enough thyroid hormone. The condition can cause slow
growth and brain development.

 If congenital hypothyroidism detected early, a baby can

be treated with oral doses of thyroid hormone.
 Babies with galactosemia lack the enzyme
that converts galactose into glucose.
 For a baby with galactosemia, milk and
other dairy products must be removed
from the diet.
 Otherwise, galactose can build up in the
body and damage cells and organs, leading
to blindness, severe intellectual disability,
growth deficiency, and even death.
 Is a blood disorder that is inherited (meaning it is passed down from
parents to their children). It affects a protein in red blood cells called
hemoglobin that helps carry oxygen throughout the body.
 Sickle cell disease makes red blood cells form into a curved, sickle shape.
These cells also become sticky, stiff, and more fragile. This makes it hard
for them to move through the bloodstream.

 Sickle cell disease can cause pain episodes, damage to vital organs like
the lungs and kidneys, and even death. Young children with sickle cell
disease are especially prone to certain dangerous bacterial infections, like
pneumonia (inflammation of the lungs) and meningitis (inflammation of the
brain and spinal cord).
 Babies with biotinidase deficiency don't have
enough biotinidase, an enzyme that recycles
biotin (a B vitamin) in the body.
 Biotinidase deficiency may cause seizures,
poor muscle control, problems with the
immune system, hearing loss, intellectual
disability, coma, and even death.
 Congenital adrenal hyperplasia (CAH) is a group of
disorders involving hormones produced by the adrenal
gland.
 It causes the adrenal glands to make excess
androgens (male steroid hormones) and, in some
cases, not enough of the hormones that regulate the
body's salt balance.
 Congenital adrenal hyperplasia can affect the
development of the genitals and may cause death due
to loss of salt from the kidneys.
 Lifelong treatment through supplementation of the
missing hormones manages the condition.
 Babies with maple syrup urine disease (MSUD) are
missing an enzyme needed to process three amino
acids needed for the body's normal growth.

 MSUD makes urine (pee) smell like maple syrup or

sweet, burnt sugar. Babies with MSUD usually have
little appetite and are very irritable.

 If not detected and treated early, MSUD can cause

intellectual disability, physical disability, and even
death.

 Babies with MSUD are often given a

formula that supplies the necessary nutrients.
 Babies with tyrosinemia have trouble
processing the amino acid tyrosine.
 If tyrosine builds up in the body, it can cause
mild intellectual disability, language skill
difficulties, liver problems, and even death from
liver failure.
 Treatment for tyrosinemia requires a special
diet and sometimes a liver transplant. Early
diagnosis and treatment can offset
long-term problems.
 Is a genetic disorder that mainly affects the
lungs and digestive system and makes kids
who have it more vulnerable to lung
infections.

 Treatment involves trying to prevent serious

lung infections (sometimes with antibiotics)
and providing adequate nutrition.
 MCAD (medium chain acyl CoA dehydrogenase) is
an enzyme needed to break down certain fatty acids
in the body.
 With MCAD deficiency, the body cannot process
these fatty acids.
 Kids who have MCAD deficiency can have repeated
episodes of low blood sugar (hypoglycemia), which
can cause seizures and interfere with normal growth
and development.
 Treatment for MCAD deficiency involves making
sure kids don't skip meals and that they get extra
nutrition usually by intravenous [IV]
nutrients when they're ill.
 Is a serious immune system disorder that happens
because of a lack of both B- and T- lymphocytes in
the body.
 When the immune system doesn't work correctly, it
can be difficult or impossible for it to battle viruses,
bacteria, and fungi that cause infections.
 Early diagnosis of SCID can allow treatment to
help the immune system work properly.
 Is an infection by a tiny parasite (Toxoplasma
gondii) that can live inside the cells of humans
and animals, especially cats and farm
animals.

 Toxoplasmosis can cause serious problems in

a baby, including seizures and severe eye
problems (including blindness) and brain
damage or intellectual disability.
Types of Tests
in NEWBORN
SCREENING
 (1) BLOOD TEST
 During the blood test, which is sometimes called the heel
stick, the baby’s heel will be pricked to collect a small
sample of blood.
 The health professional will put drops of blood onto the
filter paper card to create several “dried blood spots.”
The newborn screening card is then sent to the state
laboratory for analysis.
(2) HEARING SCREEN
 Both tests are quick ( 5-10 minutes), it is safe
and comfortable with no activity required
from your child.
 These tests are often performed while a baby
is asleep.
a) Otoacoustic Emissions Test (OAE)
 It is used to determine if certain parts of the
baby’s ear respond to sound.
 During the test, a miniature earphone and
microphone are placed in the ear and sounds
are played.
 When a baby has normal hearing, an echo is
reflected back into the ear canal, which can
be measured by the microphone. If no echo is
detected, it can indicate hearing loss.
b) Auditory Brain Stem Response Test (ABR)
 This test is used to evaluate the auditory brain stem
 ( the part of the nerve that carries sound from the ear to the
brain) and the brain’s response to sound.
 During this test, miniature earphones are placed in the ear and
sounds are played.
 Band-Aid-like electrodes are placed along the baby’s
head to detect the brain’s response to the sounds.
 If the baby’s brain does not respond consistently
to the sounds, there may be a hearing
problem.
 (2) PULSE OXIMETRY
TESTING
 Also called as pulse ox, is a non-invasive
test that measures how much oxygen is in
the baby’s blood.
 The pulse ox test can help identify babies
that may have Critical Congenital Heart
Disease (CCHD).
 The test is done using a machine called a
pulse oximeter, using a painless sensor
placed on the baby’s skin.
 WHAT HAPPENS IF A NEWBORN
SCREENING TEST COMES BACK
POSITITVE?
• Within 2 to 3 weeks after newborn
screening tests are performed, results are
sent to the baby’s doctor’s office or clinic.
• A positive result means that at least one
of the test came back outside the normal
range.
• Other words for a positive result are
“failing”, “out-of-range”, or “abnormal”.
 WHAT HAPPENS IF A NEWBORN
SCREENING TEST COMES BACK
NEGATIVE?
• A negative result means that all of
the tests are in normal range and
they do not indicate any increased
risk.
• Other words for negative result are
“passing”, “in-range”, or “normal”
 COLLECTION OF BLOOD
SPECIMEN PROCEDURE:
1. Inform parents about the purpose and need for
newborn screening.
2. Place infant's leg in a position that will increase
venous pressure (e.g. heart above feet).
3. Warm the heel to increase blood supply to the
area by covering the puncture site for three to
five minutes with a warm, moist towel, which
has been run under tap water at a temperature
of not more than 42°C.
4. Wash hands and put on gloves. Cleanse the puncture
site with a sterile alcohol pad. Wipe drywith a sterile
gauze pad. Residual alcohol may cause hemolysis of the
blood specimen resultingin an invalid specimen.
5. With a lancet or specialty device, puncture the heelskin
with one continuous, deliberate motion at a slightangle
(a little less than 90o). Wipe away the first drop ofblood
with a dry sterile gauze pad, as it is likely tocontain
tissue fluids that will contaminate the specimen.
6. Allow a second, large drop of blood to form.
7. Lightly touch the filter paper to this large drop
of blood. Allow the blood to soak through and
completely fill the preprinted circle. To
enhance blood flow, very gentle intermittent
pressure may be applied to the area
surrounding the puncture site.
8. Fill remaining circles in same manner as steps
6 and 7 with successive drops of blood.
9. Care of the skin puncture site should be
consistent with your institution's procedures.
10. Allow the blood specimen to air-dry in a
suspended horizontal position for at least 3
hours at ambient temperature (15°C to 22°C),
but not in direct sunlight.
11. When the specimen has dried, place the
biohazard flap over the filter paper and place the
specimen in the pre-addressed mailing envelope.
12. Mail the collection card to the laboratory within
24 hours after collecting the specimen.
AVOID MAIKING DELAYS AT THE
COLLECTION SITES.
 Do not perform skin punctures for
obtaining blood specimens on the
central area of a newborn infant’s
foot (area of the arch).
 This may result in injury to
nerves, tendons, and cartilage
and offers no advantage over
puncturing the heel.
Do not perform skin punctures on the
fingers of newborns or infants. The distance
from the skin’s surface to the bone in the
thickest portion of the last segment of each
finger of newborns ranges from 1.2 to 2.2
mm, and with available lancets, the bone
could easily be damaged. In newborns, local
infection and gangrene may be a
complication of finger punctures.
Use of a capillary tube for
specimen collection is not
acceptable as it does not
present a homogenous sample
and becomes problematic with
tests that require DNA
amplification.
Avoid touching or smearing the
blood spots. Do not heat, stack,
or allow blood spots on the filter
paper to touch other surfaces
during the drying process.
• Has all information legibly recorded on the blood collection form
• Is collected from an infant after the first 24 hours of life
• Has no foreign contaminants on the filter paper
• Has all printed circles completely filled with blood that is applied
evenly on one side of the filter paper; free of layering and clots
• Is dried for at least four hours on a flat, clean, non-absorbent
surface, away from direct heat and sunlight
• Is covered by the safety flap after proper drying and before
mailing
• Is delivered to the appropriate pick-up site within the hospital
for delivery to the screening laboratory the next morning. If your
site does not participate in the NYS delivery program, the
specimen must be sent to the Newborn Screening Program by first
class mail or its equivalent within 24 hours of collection.
 Circles not completely filled or blood did not soak through
 Specimen not dried for a minimum of four hours prior to mailing
 Excess blood applied (usually by capillary or needle) or blood applied to both sides of the card
 Puncture site squeezed or “milked” to expel blood which causes hemolysis of the specimen and
fix tissue fluid with the specimen; exposure to direct heat; contamination of filter
paper before or after specimen collection
 Alcohol not wiped off puncture site before skin puncture;
filter paper contaminated with water or lotion, puncture
site excessively squeezed; improperly dried; blood
applied with a capillary tube containing an
• Anticoagulant.
 Same circle touched with blood several times; circle
filled from both sides of the paper; protective flap in
contact with wet blood spots.
 Unsuitable Specimens
 Puncture site squeezed or “milked” to expel blood which causes hemolysis of the
specimen and ix tissue fluid with the specimen; exposure to direct heat;
contamination of filter paper before or after specimen collection
 Alcohol not wiped off puncture site before skin puncture; filter paper contaminated
with water or lotion, puncture site excessively squeezed; improperly dried; blood
applied with a capillary tube containing an anticoagulant.
 Same circle touched with blood several times; circle filled from both
sides of the paper; protective flap in contact with wet blood spots.