For would-be parents, this is very welcome news as newborn screening is a valuable tool in catching congenital diseases at its early stages. The process, introduced by a group of pediatricians and obstreticians in 1996, has come a long way as now every hospital in the country has been mandated by law to implement this program. The first week of October in fact, was recently declared as Newborn Screening Week through Presidential Proclamation 540.

What is newborn screening? Newborn screening (NBS) is a simple procedure to find out if your baby has a congenital metabolic disorder that may lead to mental retardation and even death if left untreated.  Most babies with metabolic disorders look normal at birth. One will never know that the baby has the disorder until the onset of signs and symptoms and more often ill effects are already irreversible.

What are the disorders included in the Newborn Screening Package?

1. Congenital Hypothyroidism (CH)

CH results from lack or absence of thyroid hormone, which is essential to growth of the brain and the body. If the disorder is not detected and hormone replacement is not initiated within (4) weeks, the baby’s physical growth will be stunted and she/he may suffer from mental retardation.

2. Congenital Adrenal Hyperplasia (CAH)

CAH is an endocrine disorder that causes severe salt lose, dehydration and abnormally high levels of male sex hormones in both boys and girls. If not detected and treated early, babies may die within 7-14 days.

3. 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 liver damage, brain damage and cataracts.

4. Phenylketonuria (PKU)

PKU is a metabolic disorder in which the body cannot properly use one of the building blocks of protein called phenylalanine. Excessive accumulation of phenylalanine in the body causes brain damage.

5. Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD Def)

G6PD deficiency is a condition where the body lacks the enzyme called G6PD. Babies with this deficiency may have hemolytic anemia resulting from exposure to certain drugs, foods and chemicals.
Newborn screening is ideally done on the 48th hour or at least 24 hours from birth. Some disorders are not detected if the test is done earlier than 24 hours. The baby must be screened again after 2 weeks for more accurate results. All it takes is a simple heel prick method. A few drops are taken from the baby’s heel and blotted on a special absorbent filter card. The blood is dried for 4 hours and sent to the Newborn Screening Laboratory (NBS Lab). Results are available within three weeks after the NBS Lab receives and tests the samples sent by the hospital.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 hospital where the sample was collected for recall of patients for confirmatory testing. Babies with positive results are referred at once to a specialist for confirmatory test and further management.

In his keynote speech, DoH Undersecretary Alexander Padilla reiterated the commitment of the DoH in the full implementation of R.A. 9288. National coverage has increased from 21% in 2008 to 50% in 2009. By 2010, all hospitals and birthing facilities shall have ensured 85% of the department’s target coverage. Part of the strategic plan is the recent opening of a newborn screening center in Mindanao.