Newborn Screening

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NCM 104 - CHN RLE

NEWBORN
SCREENING
MARY ROSE ALILING-DE CHAVEZ, RN, MAN (U)
NBS
Newborn screening is a simple
procedure to find out if a baby has
a congenital metabolic disorder

RA 9288 KNOWN AS
that may lead to mental

NBS ACT OF 2004


retardation or even death if left
untreated. Having the baby
undergo newborn screening is
important because most babies
with metabolic disorders look
―normal at birth.
Early Checks
In the Philippines, the disorder tested for NBS are:
1. Congenital hypothyroidism
2. Congenital adrenal hyperplasia
3. Galactosemia
4. Phenylketonuria
5. Glucose-6-phosphate-dehydrogenase (G6PD)
deficiency
6. Maple syrup urine disease

Aside from this 6, NBS can also detect other 22


disorders including amino acid disorders, fatty
acid oxidation disorders, endocrinopathies,
hemoglobinopathies, organic acidemias, cystic
fibrosis, urea cycle disorders.
When are Newborn Screening Results
Available?
Newborn screening results are available
within seven to fourteen (7 - 14) working
days after the newborn screening
samples are received in the NBS
laboratory.
• A negative screen means that the
result of the test indicates extremely
low risk of having any of the
disorders being screened.
• A positive screen means that the
What should be done
when a baby is tested a
positive NBS result?

Babies with positive


results should be
referred at once to the
nearest hospital or
specialist for
confirmatory testing and
further management.
Should there be no
specialist in the area, the
HEARING TEST • RA 9709: Universal Newborn Screening and
Intervention Act of 2009
• Early detection of congenital hearing loss among
newborns and referral for early interventions to
infants with hearing loss
• 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
Otoacoustic Emissions
(OAE) Test:

This test 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
THIS TEST IS USED TO EVALUATE THE
AUDITORY BRAIN STEM (THE PART OF THE

Auditory NERVE THAT CARRIES SOUND FROM THE


EAR TO THE BRAIN) AND THE BRAIN’S

Brain Stem RESPONSE TO SOUND. DURING THIS TEST,


MINIATURE EARPHONES ARE PLACED IN

Response THE EAR AND SOUNDS ARE PLAYED.


BAND-AID-LIKE ELECTRODES ARE PLACED

(ABR) Test: 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.

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