About Newborn Screening

ABOUT
NEWBORN
SCREENING
Bagon, Balangi, Manalo
Newborn screening is the practice of testing every
newborn for certain harmful or potentially fatal disorders
that aren't otherwise apparent at birth.
With a simple blood test, doctors often can tell whether

newborns have certain conditions that eventually could
cause problems.
Although these conditions are rare and most babies are

given a clean bill of health, early diagnosis and proper
treatment sometimes can make the difference between
lifelong impairment and healthy development.
WHY ARE ALL BABIES
SCREENED AT BIRTH?
Most babies are born healthy. However, some infants have a
serious medical condition even though they look and act like all
newborns.
These babies generally come from families with no previous

history of a condition.
Newborn screening allows health professionals to identify and

treat certain conditions before they make a baby sick.
Most babies with these conditions who are identified at birth

and treated early are able to grow up healthy with normal
development.
WHEN DOES THE SCREEN
HAPPEN?
The blood test is generally performed when a baby is 24 to 48
hours old.
This timing is important because certain conditions may go
undetected if the blood sample is drawn before 24 hours of age.
If the blood is drawn after 48 hours of age, there could be a life-
threatening delay in providing care to an infant that has the
condition.
Some states require babies to undergo a second newborn screen
when they are two weeks old. This precaution ensures that parents
and health professionals have the most accurate results.
Ideally, the newborn hearing screen should be performed before
the baby leaves the hospital.
Which Tests Are Offered?
Newborn screening varies by state and is subject to change,
especially given advancements in technology. However, the
disorders listed here are those usually included in newborn
screening programs:
Phenylketonuria (PKU)
Congenital hypothyroidism
Galactosemia
Sickle cell diseasecystic fibrosis (CF)
MCAD deficiency
Severe combined immunodeficiency (SCID)
All newborns will also have a hearing screening.
Hearing Screen:
Two different tests can be used to screen for hearing loss in babies. Both tests
are quick (5-10 minutes), safe and comfortable with no activity required
from your child. In fact, these tests are often performed while a baby is
asleep. One or both tests may be used.
Otoacoustic Emissions (OAE) Test: This test is used to determine if certain

parts of the babys 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.
Auditory Brain Stem Response (ABR) Test: 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 brains 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 babys head to detect the brains
response to the sounds. If the babys brain does not respond consistently to
the sounds, there may be a hearing problem.
Phenylketonuria (PKU)
Phenylketonuria (PKU) is a metabolic
disorder. Metabolism is the process in the body that
converts the fuel from food into energy needed to do
everything from moving to thinking to growing.
A metabolic disorder is any disease caused by an
abnormal chemical reaction in the body's cells.
Babies with PKU are missing an enzyme that's needed to

process phenylalanine. Phenylalanine is an amino
acid necessary for normal growth in kids and for normal
protein use. Amino acids are the "building blocks" for the
proteins that make up our muscles and other important
parts of our bodies.
Congenital Hypothyroidism
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 also key factors in helping kids grow.
Babies with congenital hypothryoidism don't have enough

thyroid hormone. The condition can cause slow growth and
brain development.
If congenital hypothryoidism is detected early, a baby can

be treated with oral doses of thyroid hormone.
Galactosemia
Babies with galactosemia lack the enzyme that converts
galactose (one of two sugars found in lactose)
into glucose, the major source of energy for the body's
cells.
For a baby with galactosemia, milk (including breast 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.
Many less severe forms of galactosemia may not require

any treatment.
Pulse Oximetry Testing:
Pulse oximetry, or pulse ox, is a non-invasive test that
measures how much oxygen is in the blood. Infants with
heart problems may have low blood oxygen levels, and
therefore, 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 babys skin. The pulse
ox test only takes a couple of minutes and is performed
after the baby is 24 hours old and before he or she leaves
the newborn nursery.
FIN

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ABOUT

With a simple blood test, doctors often can tell whether

Although these conditions are rare and most babies are

These babies generally come from families with no previous

Newborn screening allows health professionals to identify and

Most babies with these conditions who are identified at birth

Otoacoustic Emissions (OAE) Test: This test is used to determine if certain

Babies with PKU are missing an enzyme that's needed to

Babies with congenital hypothryoidism don't have enough

If congenital hypothryoidism is detected early, a baby can

For a baby with galactosemia, milk (including breast milk)

Many less severe forms of galactosemia may not require

The test is done using a machine called a pulse oximeter,

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