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Newborn Screening Program in The Philippines

The Newborn Screening Program in the Philippines mandates screening for several genetic disorders including congenital hypothyroidism, congenital adrenal hyperplasia, galactosemia, phenylketonuria, and G6PD deficiency. Screening is done through a heel prick blood sample or urine sample collected at birth facilities or at home using filter paper. Positive screening results require a confirmatory test at a hospital. Screening aims to detect disorders early to prevent intellectual disability or other health issues through treatment. Results are typically available within 3 weeks but some laboratories can provide results within 48 hours.

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259 views2 pages

Newborn Screening Program in The Philippines

The Newborn Screening Program in the Philippines mandates screening for several genetic disorders including congenital hypothyroidism, congenital adrenal hyperplasia, galactosemia, phenylketonuria, and G6PD deficiency. Screening is done through a heel prick blood sample or urine sample collected at birth facilities or at home using filter paper. Positive screening results require a confirmatory test at a hospital. Screening aims to detect disorders early to prevent intellectual disability or other health issues through treatment. Results are typically available within 3 weeks but some laboratories can provide results within 48 hours.

Uploaded by

Armie Capinpin
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© © All Rights Reserved
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Newborn Screening Program in the Philippines

The following tests are mandated in the R.A. 9288 or Newborn Screening program of
2004.Newborn screening is available in practicing health institutions (hospitals, lying-ins, Rural
Health Units and Health Centers) with cooperation with DOH. If babies are delivered at home,
babies may be brought to the nearest institution offering newborn screening. However, now
there is also a simple method by which the Newborn Screening can be made possible even at
home. The urine sample of newborn can be absorbed on filter paper and sent to laboratories
which may run the test. The reports are simple enough to be understood by the parents. A
negative screen mean that the result of the test is normal and the baby is not suffering from any
of the disorders being screened. In case of a positive screen, the NBS nurse coordinator will
immediately inform the coordinator of the institution where the sample was collected for recall of
patients for confirmatory testing. Babies with positive results should be referred at once to the
nearest hospital or specialist for confirmatory test and further management. Should there be no
specialist in the area, the NBS secretariat office will assist its attending physician. Disorders
Screened:

Heel Prick Method for the newborn screening

CH (Congenital hypothyroidism) - is a condition of thyroid hormone deficiency present at


birth. Approximately 1 in 4000 newborn infants has a severe deficiency of thyroid function,
while even more have mild or partial degrees. If untreated for several months after birth,
severe congenital hypothyroidism can lead to growth failure and permanent mental
retardation. Treatment consists of a daily dose of thyroid hormone (thyroxine) by mouth.
Because the treatment is simple, effective, and inexpensive, nearly all of the developed
world practices newborn screening to detect and treat congenital hypothyroidism in the first
weeks of life.

CAH (Congenital adrenal hyperplasia) - refers to any of several autosomal recessive


diseases resulting from mutations of genes for enzymes mediating the biochemical steps of

production of cortisol from cholesterol by the adrenal glands (steroidogenesis). Most of


these conditions involve excessive or deficient production of sex steroids and can alter
development of primary or secondary sex characteristics in some affected infants, children,
or adults. Approximately 95% of cases of CAH are due to 21-hydroxylase deficiency.

GAL (Galactosemia) - is a rare genetic metabolic disorder which affects an individual's


ability to properly metabolize the sugar galactose. Lactose in food (such as dairy products)
is broken down by the body into glucose and galactose. In individuals with galactosemia, the
enzymes needed for further metabolism of galactose are severely diminished or missing
entirely, leading to toxic levels of galactose to build up in the blood, resulting in
hepatomegaly (an enlarged liver), cirrhosis, renal failure, cataracts, and brain damage.
Without treatment, mortality in infants with galactosemia is about 75%.

PKU (Phenylketonuria) - is an autosomal recessive genetic disorder characterized by a


deficiency in the enzyme phenylalanine hydroxylase (PAH). This enzyme is necessary to
metabolize the amino acid phenylalanine to the amino acid tyrosine. When PAH is deficient,
phenylalanine accumulates and is converted into phenylpyruvate (also known as
phenylketone), which is detected in the urine. PAH is found on chromosome number 12.Left
untreated, this condition can cause problems with brain development, leading to progressive
mental retardation and seizures. However, PKU is one of the few genetic diseases that can
be controlled by diet. A diet low in phenylalanine and high in tyrosine can be a very effective
treatment. There is no cure. Damage done is irreversible so early detection is crucial.

G6PD Deficiency - is an X-linked recessive hereditary disease characterized by


abnormally low levels of the glucose-6-phosphate dehydrogenase enzyme (abbreviated
G6PD or G6PDH). It is a metabolic enzyme involved in the pentose phosphate pathway,
especially important in red blood cell metabolism.

Newborn screening results are available within three weeks after the NBS Lab receives and
tests the samples sent by the institutions. However the time period is too long a wait to know a
disorder since the damage may already have started. There are few laboratories which give
results with in 24 to 48 hours from receipt of samples. Results are released by NBS Lab to the
institutions and are released to your attending birth attendants or physicians.Parents may seek
the results from the institutions where samples are collected.

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