NEWBORN SCREENING Flashcards
What is NEWBORN SCREENING
early detection of congenital metabolic
disorders
The process involves testing a small blood
sample taken from a
newborn’s heel
Newborn screening
Conditions screened for include:
Spinal
muscular atrophy, sickle cell disease,
metabolic disorders, lysosomal storage
diseases, severe combined
immunodeficiencies, critical congenital heart
defects, hearing loss
“Newborn Screening Act of 2004”
Republic Act 9288
The National Newborn Screening System aims to:
Ensure that every baby born in the Philippines
is offered newborn screening.
Protect babies from heritable conditions that
can lead to mental retardation or death if
undetected and untreated.
Objectives of the Newborn Screening Act of 2004
access
newborn screening system within the public
practitioners are
aware of the advantages of newborn
screening
parents recognize their
responsibility in promoting their child’s
right to health and full development
How the test is performed?
→ Blood Test
→ Hearing Test
→ Critical Congenital Heart Disease (CCHD)
Test
Below are the common screening tests for
newborns, including some of the health
conditions that they can detect:
Metabolic issues:
find it hard to digest
food correctly.
Below are the common screening tests for
newborns, including some of the health
conditions that they can detect:
Hormone issues
Disorders occur when
the glands either make too much or not
enough hormones.
Hormone issues
Endocrine issues that may be detected
by a newborn screening include:
✓ Congenital hypothyroidism
✓ Congenital adrenal hyperplasia
Below are the common screening tests for
newborns, including some of the health
conditions that they can detect:
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
WHO MAY COLLECT THE SAMPLE FOR
NEWBORN SCREENING?
→ A Trained
→ physician
→ nurse
→ midwife
→ medical technologist
WHERE IS NEWBORN SCREENING AVAILABLE?
- hospitals
- lying-in centers
- RHU’s
- health centers.
Screening is done within
48 hours or at
least 24 hours from birth but not later than
3 days after complete delivery.
A newborn
placed in intensive care may be exempted
from the 3-day requirement but must be
tested by __ of age.
7 days
SCREENING PROCEDURE
pricking the baby’s heel.
blotched on a special absorbent
card and dried for at least 4 hours
This allows for timely intervention,
which is critical for disorders such
as c
ongenital hypothyroidism,
phenylketonuria (PKU), and congenital adrenal hyperplasia.
Currently, it
screens for ___(HOW MANY)conditions
29
The initial screening involves the collection of
blood samples from newborns to test for
specific conditions. As of 2023, the Philippine
NBS program screens for 28 conditions, which
include:
- Congenital Hypothyroidism (CH)
- Congenital Adrenal Hyperplasia (CAH)
- Phenylketonuria (PKU)
- Galactosemia (GAL)
- Glucose-6-Phosphate Dehydrogenase
(G6PD) Deficiency - Maple Syrup Urine Disease (MSUD)
Congenital Hypothyroidism (CH):
A
condition that can lead to severe
developmental delays if untreated
Congenital Adrenal Hyperplasia (CAH
A
genetic disorder affecting adrenal gland
function.
Phenylketonuria (PKU)
A metabolic disorder
that can cause intellectual disability if not
managed through dietary restrictions.
