RIVERA, ZYRENE MAY C.

OCTOBER 18,2021

BSN-2 MS. VIVIAN LAJARA

NEWBORN SCREENING

WHAT IS NEWBORN SCREENING?

 Newborn screening refers to a set of special tests,

including blood, hearing, and heart screening, done to one-
to two-day-old infants, usually before they leave the
hospital. This is to check for any serious health disorders
that do not show signs at birth. The tests often scan for
genetic and metabolic abnormalities, hearing problems,
specific heart problems, and other conditions that can
hinder their development.

 Newborn babies that have health conditions may not exhibit

any symptoms at infancy. If left untreated, the baby may
develop serious problems. This is why newborn screening is
essential as it helps with the early diagnosis of these
conditions so babies can begin treatment as soon as possible
—before the disease even turns serious or so early
interventions can be made.

 If a baby is not born in a hospital, parents should talk to

their healthcare provider about newborn tests. Moreover,
 some babies require a repeat test one (1) to two (2) weeks
later.

SCREENING PROCEDURE

Blood Test - A blood test, also called a heel stick, checks for
rare but serious health problems in newborns. The health
professional will prick the baby’s heel to collect a blood sample
on a special filter paper, then send this to the laboratory for
analysis. This is often read by the time the newborn is around
five to seven days old.

Hearing Test - There are two different tests used to determine if

there are hearing issues on the newborn. Both processes are
quick, safe, and comfortable, and are often done while the baby
is sleeping.

 Auditory Brain Stem Response (ABR) Test. This is used to

assess the auditory brain stem and the brain’s response to
sound. Like the OAE test, a miniature earphone is inserted
in the ear to play sounds. If the newborn’s brain does not
respond to the sounds consistently, it may indicate a
hearing problem.
  Otoacoustic Emissions (OAE) Test. This test helps diagnose
if certain parts of the infant’s ear respond to sound. A
tiny earphone and a microphone are carefully inserted in the
ear, and sounds are played. If there is no echo reflected in
the ear canal (measured by the microphone), it can imply
hearing loss.

Pulse Oximetry Test - This non-invasive test measures how much

oxygen is in an infant’s blood. Babies with heart issues may show
low blood oxygen levels. A pulse oximeter machine is used for the
test, which utilizes a harmless sensor placed on the baby’s skin.
The pulse oximetry test can also determine if an infant has
Critical Congenital Heart Disease (CCHD).
HEALTH CONBDITIONS

Metabolic issues: Newborns with organic acid metabolism disorders

find it hard to digest food correctly. Failure to get babies
screened for this may cause developmental delay, breathing
problems, and neurological damage. Some of the common organic
acids that build up in their body include:

 Propionic acidemia (PROP)

 Methylmalonic acidemia
 3-Methylcrotnyl CoA carboxylase deficiency
 Trifunctional protein deficiency (TFP)

Hormone issues: These pertain to the glands that produce

hormones. Disorders occur when the glands either make too much or
not enough hormones. These issues can cause growth and
developmental problems if not detected and treated within two (2)
weeks of birth. Endocrine issues that may be detected by a
newborn screening include:

 Congenital hypothyroidism
 Congenital adrenal hyperplasia
 Hemoglobin issues: These disorders affect the red blood cells
responsible for carrying oxygen to the entire body. Some of the
hemoglobin-related issues screened are:

 Sickle cell disease

 Hemoglobin SC disease
 Beta Thalassemia

Other issues: Newborn screening can also detect rare but serious
medical conditions, such as the following:

 Cystic fibrosis
 Pompe disease
 Spinal muscle atrophy (SMA)
 Galactosemia

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