NEWBORN

SCREENING
 Newborn screening is a procedure intended for early
identification of infants who are affected by certain
genetic, metabolic, or infectious conditions that may
lead to mental retardation or morbidity if left
untreated.
 The NBS was integrated into the public health delivery
system with the enactment of Republic Act 9288 or
Newborn Screening Act of 2004.

NEWBORN SCREENING
1. Congenital Hypothyroidism (CH)
2. Congenital Adrenal Hyperplasia (CAH)
3. Phenylketonuria (PKU)
4. Glucose-6- Phosphate Dehydrogenase (G6PD) Deficiency
5. Galactosemia (GAL)
6. Maple Syrup Urine Disease (MSUD)

REGULAR NEWBORN SCREENING

PROGRAM IN THE PHILIPPINES INCLUDES
SCREENING OF SIX DISORDERS:
 Congenital hypothyroidism occurs when a newborn infant is born
without the ability to make normal amounts of thyroid hormone.
 Thyroid hormone is important for the baby's brain
development as well as growth, therefore, untreated congenital
hypothyroidism can lead to intellectual disabilities and growth
failure.

CONGENITAL HYPOTHYROIDISM (CH)

 Congenital adrenal hyperplasia (CAH) is a group of inherited
genetic disorders that affect the adrenal glands, a pair of walnut-
sized organs above your kidneys. A person with CAH lacks one of
the enzymes the adrenal glands use to produce hormones that
help regulate metabolism, the immune system, blood pressure
and other essential functions.
 CAH affects the production of one or more of three steroid
hormones: cortisol, which regulates your body's response to illness
or stress; mineralocorticoids, such as aldosterone, which regulate
sodium and potassium levels; or androgens, such as testosterone,
which are sex hormones.

CONGENITAL ADRENAL HYPERPLASIA (CAH)

 Phenylketonuria (PKU) is a condition in which your body can’t
break down an amino acid called phenylalanine.
 Amino acids help build protein in your body. Without treatment,
phenylalanine builds up in the blood and causes health
problems.

PHENYLKETONURIA (PKU)
 G6PD deficiency is a genetic disorder that most often affects
males. It happens when the body doesn't have enough of
an enzyme called glucose-6-phosphate dehydrogenase (G6PD).
 G6PD helps red blood cells work. It also protects them from
substances in the blood that could harm them.
 In people with G6PD deficiency, either the red blood cells do not
make enough G6PD or what they do make doesn't work as it
should. Without enough G6PD to protect them, the red blood
cells break apart. This is called hemolysis. When many red blood
cells are destroyed, a person can develop hemolytic anemia.
This can cause tiredness, dizziness, and other symptoms.

GLUCOSE-6- PHOSPHATE
DEHYDROGENASE (G6PD) DEFICIENCY
 Galactosemia which means “galactose in the blood,” refers to a
group of inherited disorders that impair the body's ability to
process and produce energy from a sugar called galactose.
When people with galactosemia ingest foods or liquids
containing galactose, undigested sugars build up in the blood.

Galactosemia (GAL)
 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.
 MSUD is considered an amino acid condition because people
with MSUD have trouble breaking down certain amino acids, the
building blocks of proteins.
 Detecting MSUD early and beginning treatment can often
prevent the severe outcomes of the condition.

Maple Syrup Urine Disease (MSUD)