• Is the practice of testing every newborn for certain harmful or

potentially fatal disorders that aren't otherwise apparent

at birth.
• RA 9288 known as the “Newborn Screening Act of 2004” with
its Implementing Rules and Regulations.
• Most babies with metabolic disorder look normal at birth.
• One will never know that the baby has the disorder until the
signs and symptoms are manifested. By this time, irreversible
consequences are already present.
• Ideally done on the 48th to 72nd hour of life (first 2 to 3 days
of life).
• May also be done 24 hours from birth since some disorders
are not detected if the test is done earlier than 24 hours from
birth.
• Using the heel prick method, a few drops of blood are taken
from the baby’s heel
• Blotted on a special absorbent filter card
• Blood is dried for 4 hours and sent to the Newborn Screening
Center
A Trained
• Physician
• Nurse
• midwife or
• medical technologist
• Available in participating Newborn Screening Facilities that
includes – hospitals – lying-in centers – RHU’s – health
centers.
• If babies are delivered at home, the baby may be brought to
the nearest Newborn Screening Facility.
• Seven (7) working days from the time the newborn screening
samples are received parents should claim the results from
their physician, nurse, midwife or health worker.
• Any laboratory result indicating an increased risk of a
heritable disorder (i.e. positive screen) shall be immediately
released, within twenty-four (24) hours, so that confirmatory
testing can be immediately done.
• A positive screen means that the newborn must be referred
at once to a specialist for confirmatory testing and further
management.
 Screened Effect if NOT SCREENED Effect if SCREENED and
TREATED
Congenital Hypothyroidism Severe Mental Retardation Normal
(CH)
Congenital Adrenal Death Alive and Normal
Hyperplasia (CAH)

Galactosemia (GAL) Death or Cataracts Alive and Normal

Phenylketonuria (PKU) Severe Mental Retardation Normal

G6PD Deficiency Severe Anemia, Kernicterus , Normal

• 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.
• A group of disorders involving hormones produced by the
adrenal gland. CAH can affect both boys and girls. 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.
• It 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 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.
• A metabolic disorder
• 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.
• 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.
• An inherited condition in which the body doesn't have
enough of the enzymeglucose-6-phosphate dehydrogenase,
or G6PD, which helps red blood cells (RBCs) function
normally. This deficiency can cause hemolytic anemia, usually
after exposure to certain medications, foods, or even
infections.
• Advocacy for the newborn screening of every baby. This starts
during pregnancy. The family is also advised to start saving for
the Php550.00 that is needed for the screening. The saving
must start during pregnancy.
• Sample collection
• Assures transport of specimen to the nearest Newborn
Screening Facility within twenty-four (24) hours following
collection of the sample
• Advice and counsel parents upon receiving the screening
results
(Source: Newborn Screening Center, Institute of Human Genetics, National Institute of
Health,University of the Philippines Manila)