Newborn Screening

Alyssa Nicole B. Reyes

 Newborn screening (NBS) is an essential public
health strategy that enables the early detection and
management of several congenital disorders, which
if left untreated, may lead to mental retardation
and/or death. Early diagnosis and initiation of
treatment, along with appropriate long-term care
help ensure normal growth and development of the
affected individual. It has been an integral part of
routine newborn care in most developed countries
for five decades, either as a health directive or
mandated by law.  In the Philippines, it is a service
available since 1996.
 Legal Basis
 Republic Act 9288, otherwise known as
the Newborn Screening Act of 2004, illustrates a
procedure to detect a genetic and metabolic
disorder in newborns that may lead to mental
retardation and even death if left untreated. In
many countries, newborn screening has been a
mechanism that protects babies from health risks.
 Diseases that may detected in
newborn screening tests
 Newborn screening program in the Philippines
currently includes screening of six disorders:
congenital hypothyroidism (CH), congenital
adrenal hyperplasia (CAH), phenylketonuria
(PKU), glucose-6- phosphate dehydrogenase
(G6PD) deficiency, galactosemia (GAL) and
maple syrup urine disease (MSUD). 
 Congenital hypothyroidism (CH)-This is a condition in
which the baby is born with too little thyroid hormone.
Untreated low thyroid hormone levels can lead to mental
developmental problems and poor growth.
 Phenylketonuria (PKU). PKU is an inherited disease in
which the body cannot metabolize a protein called
phenylalanine. Without treatment, PKU can cause intellectual
disability.
 Galactosemia. This is an inherited disorder in which the baby
is unable to metabolize galactose, a milk sugar. It is estimated
to occur in about 1 baby in every 53,000 births. Without
treatment (avoidance of milk), galactosemia can be life
threatening. Symptoms may begin in the first two weeks of
life.
 Maple syrup urine disease (MSUD) is a condition in which
the body is unable to break down certain proteins. The
condition is named for the sweet odor of the urine of
untreated babies.
 Congenital adrenal hyperplasia (CAH) is a collection of
inherited conditions that affect the body’s adrenal glands,
which are the cone-shaped organs that sit on top of the
kidneys.
 Glucose-6-phosphate dehydrogenase deficiency (G6PD
deficiency) is an inherited condition of the blood. Individuals
with G6PD deficiency usually show no signs or symptoms of
the condition until they are exposed to certain medications,
foods or infections.
 Expanded Newborn Screening
Disorders
ORGANIC ACID DISORDERS
ENDCORINE DISORDERS
FATTY ACID OXIDATION DISORDER
HEMOGLOBINOPATHIES
Effect if NOT SCREENED Effect if SCREENED and
MANAGED
•·Developmental delay Alive
•·Breathing problems Most will have normal development with
•·Neurologic damage episodes of metabolic crisis.
•·Seizures
•·Coma
•·Early death
• Severe Mental Retardation Normal
•·Death Alive
· Developmental and physical delays Usually healthy in between episodes of
· Neurologic impairment metabolic crises
· Sudden death Alive
· Coma
· Seizure
· Enlargement of the heart & liver
· Muscle weakness
· Painful crises Alive
· Anemia Reduces the frequency of painful crises
· Stroke May reduce the need for blood transfusions
· Multi-organ failure
· Death
UREA CYCLE DEFECT · Seizure Alive
· Mental Retardation Normal Intelligence
· Death
AMINO ACID DISORDERS · Mental retardation Alive
· Coma and death from Normal growth
metabolic crisis Normal intelligence for some,
learning problems to others
 How much does the Newborn
Screening cost?
 The first option is screening for the six disorders
at ₱550, which is included in the newborn care
package for Philhealth members and the second
option is screening for the full complement of 28
disorders at ₱1500. The expanded screening is
covered by the Philhealth, only P550 is covered
by Philhealth.
 How is it done?
 ENBS is ideally done immediately after 24 hours
from birth. How is it done? A few drops of blood
are taken from the baby's heel, blotted on a
special absorbent filter card and then sent
to Newborn Screening Center (NSC).
 How long does it take to get
newborn screening results?
 Results are usually available about two weeks
after the test, when they're sent to your midwife
or the centre where your baby was born. Almost
all babies have normal results
 What must be done when a baby has a
 positive ENBS result?
 A positive result means the test result was not
normal. All "positive" results require follow-up
diagnostic testing. In the event of a positive result,
our staff will contact the infant's care provider to
discuss the result and fax the information needed to
notify the parents and properly follow-up on the
result.
 Babies with positive results must be referred at
once to a specialist for confirmatory testing and
further management.