Republic Act 9288 also known as “Newborn Screening Act of 2004” effective since April 07, 2004 ensures that every newborn (30 days old baby) has access to the NBS procedure (Section 6), follow-up examinations on “positive” results of NBS on babies, health facilities, equipment, and centers (Section 13), and quality assurance on practices (Section 14).
Expanded Newborn Screening (ENBS) procedures could easily identify possible genetic rare diseases that can be detected within 14 days after the Newborn screening procedures.
However, despite the truth that the ENBS procedure can be availed by many Filipinos for free, still, some do not see the relevance of the said procedure, resulting in unidentified genetic disorders and death of babies.
With these, the Department of Health (DOH) and other health agencies use several Information and education campaigns (IECs) about rare disease awareness to inform and educate the public in solving maternal and rare disease issues in the country and to reduce the mortality rate of children.
Highlighting the relevance
Newborn Screening is a very simple procedure to find out if the newly born baby has disorders and defects, which could lead to mental retardation or death if left untreated. According to Newborn Screening and Reference Center, most babies with metabolic disorders look “normal” after birth; NBS could detect early signs, which sooner or later would manifest on babies.
Technically, the screening procedure amounts around P550 as per DOH Advisory Committee on NBS. This screening is included in Philhealth Newborn Care Package, based on Philhealth Circular No.s 11, 11-A, and 11-B series of 2011.
This procedure is available in all hospitals, lying-in clinics, rural health units, health centers, and even private hospitals.
NBS can be done after 24 hours from birth. Few drops of blood could be taken from the baby’s heel. The used absorbent filter card will be sent to the Newborn Screening Center after for analysis.
The negative result after 14 days of examination means the baby is normal. However, a positive result means that the baby must undergo another testing to confirm if the baby is truly positive to any metabolic disorders.
According to Newborn Screening and Reference Center (NSRC) and Philippine Society of Orphan Disorders (PSOD), here are some major rare disorders that can be identified when the baby got positive on the screening;
Congenital Hypothyroidism (CH)
CH results from lack or absence of thyroid hormone, which is essential for the physical and mental development of a child.
Congenital Adrenal Hyperplasia (CAH)
CAH is an endocrine disorder that causes severe salt loss, dehydration and abnormally high levels of male sex hormones in both boys and girls. If not detected and treated early, babies with CAH may die within 7-14 days.
Galactosemia (GAL)
GAL is a condition in which babies are 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.
Phenylketonuria (PKU)
PKU is a rare condition in which the baby cannot properly use one of the building blocks of protein called phenylalanine. Excessive accumulation of phenylalanine in the blood causes brain damage.
Glucose-6Phosphate 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 oxidative substances found in drugs, foods, and chemicals.
Maple Syrup Urine Disease (MSUD)
MSUD is a genetic metabolic disorder resulting from the defective activity of the enzyme branched-chain alpha-keto-acid dehydrogenase complex. Accumulation of the branched-chain amino acids is toxic to the brain.
There are five (5) main Newborn Screening Centers (NSCs) in the country that offers screening procedures. This can be found in Central Luzon, Southern Tagalog, National Institute of Health, Visayas, and Mindanao. It analyzes the status and updates on procedures and monitors if NBS is properly implemented in different areas.
