Newborn Screening Act

REPUBLIC ACT 9288 :
NEWBORN SCREENING
ACT OF 2004
“A drop of blood can save your baby from mental retardation
and death.”

Republic Act No. 9288
 Is also known as the “Newborn Screening Act of 2004”
 It is an act promulgating a comprehensive policy and a national
system for ensuring newborn screening
 The law was developed jointly by the Department of Health
and the National Institute of Health of UP Manila.
 It ensures that every baby born in the Philippines is offered
newborn screening

Why is it important?
 It primarily checks for 5 metabolic disorders that could
affect the health of the child within the first few weeks of
life
 If gone undetected, these disorders may cause severe
mental retardation, cataracts, severe anemia Kernicterus
or even death for the child
 However, if these disorders are diagnosed early enough,
the child can grow up as a normal healthy human being

How is the test given?
 The test should be done 24 to 72 hours after birth
 Ideally, the test should be a standard operation
procedure for hospitals and other birthing facilities
 The sample will be sent by the hospital to a centralized
testing center which is run by the National Institute of
Health at its head office in UP Manila
 The test primarily checks for five metabolic disorders
that could affect the health of the child with the first
few weeks of life.

5 metabolic disorders
Congenital
Hypothyroidism
Congenital Adrenal
Hyperplasia
Galactosemia

Phenylketonuria Glucose Six Phosphate
Dehydrogenase Deficiency

Congenital HYPOTHYROIDISM (CH)
Congenital means existing at birth (inherited).
THYROID
 A butterfly-shaped organ at
the base of the neck AND is
part of the Endocrine
System.
 Made up of several glands
and tissues that produce
hormones.
 Thyroid Stimulating
Hormone
HORMONES
 Hormones are chemicals
that send messages to other
organs or tissues to the
body, telling them to do
specific things.
8

Thyroid hormones
1. Tri-iodothyrodinine (T3)
2. Thyroxine (T4) – crucial for normal
growth and development of the body and
brain among newborn.
9

THYROID HORMONE FUNCTIONs
 Responsible for the normal function of
certain body organs and is essential for
normal brain development.
 Controls the development of muscles and
bones as well as growth of teeth.
 Helps maintain heart rate.
10

Congenital hypothyroidism
Hypothyroidism
is a condition in
which the person
does not make
enough thyroid
hormones.
11

Congenital hypothyroidism
CAUSED BY:
 Defective
development of
thyroid gland.
 Development of
thyroid gland in
abnormal location.
 Maternal intake of
anti-thyroid
medication or excess
iodine.
12

Congenital Adrenal Hyperplasia (CAH)
 A disorder present at
birth and characterized
by abnormalities in the
production of certain
hormones of the adrenal
glands.
 Adrenocorticotrophic
hormone
 If not detected and treated
early, babies may die within
7-14 days.
13

Adrenal hormones
14
 Aldosterone – “salt retaining hormone” which
keeps the kidneys from losing too much salt in
urine (pee)
 Cortisol – “stress hormone” a stress response
hormone that also needed for control of blood
pressure, blood sugar levels, and immune system
activity
 Androgens – hormones developed in sexual
development

Congenital Adrenal Hyperplasia (CAH)
15
 An inherited defect in the production of an
enzyme called (21 Hydroxylase) – which is
used by the adrenal gland to produce cortisol
and aldosterone.

What does hyperplasia means?
 Hyperplasia means an abnormal increase in
the number of cells that make up an organ or
tissue. This causes the organ or tissue to
enlarge.
18

Galactosemia (GAL)
 GAL is a condition in
which the body is unable
to process galactose, the
sugar present in milk.
 Accumulation of
excessive galactose in
the body can cause many
problems, including live
damage, brain damage
and cataracts.
19

Galactosemia (GAL)
 An inherited disorder that lacks an enzyme
(galactose-1-phosphate uridyl transferase
/GAL-1-PUT ) which helps the body to break
down galactose.
20

Phenylketonuria (PKU)
 PKU is an autosomal recessive metabolic disorder in
which the body cannot properly use one of the
building blocks of protein called phenylalanine, an
essential amino acid that converts into tyrosine
causing elevation of phenylalanine in the blood.
 Excessive accumulation of phenylalanine in the body
causes brain damage.
23

Glucose-6-Phosphate
Dehydrogenase Deficiency (G6PD
DEF)
25

G6PD Def
 Is an inherited condition in which the body
lacks the enzyme glucose-6-phosphate
dehydrogenase, or G6PD, which helps red
blood cells (RBCs) function normally.
 This deficiency can cause hemolytic anemia.
 G6PD deficiency is an X-linked hereditary
disease. 26

g6pd
 Is one of many enzymes that helps the body
process carbohydrates and turn them into
energy.
 Also protects red blood cells from potentially
harmful by products that can accumulate
when a person takes certain medications or
when the body is fighting an infection.
27

g6pd
 Without enough G6PD to protect the blood,
RBCs can be damaged or destroyed.
 Hemolytic anemia is a disorder in which the
red blood cells are destroyed faster than the
bone marrow can produce them.
28

What are the five (5) disorders currently included
in the newborn screening package?
Screened Effect if NOT
SCREENED
Effect if SCREENED
and TREATED
Congenital
Hypothyroidism (CH)
Severe Intellectual
Disability
Normal
Congenital Adrenal
Hyperplasia (CAH)
Death Alive and Normal
Galactosemia (GAL) Death or Cataracts Alive and Normal
Phenylketonuria
(PKU)
Severe Intellectual
Disability
Normal
G6PD Deficiency Severe Anemia,
Kernicterus
Normal 29

REFERENCES
30
Congenital Adrenal Hyperplasia. Merc
Manual. Sec 19, Ch.269, Endocrine
and Metabolic disorders
Essentials of Anatomy and Physiology
6th Edition
http://www.doh.gov.org.
http://www.galactosemia.org

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