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Newborn ScreeningThe first week of October is National Newborn Screening Week as mandated by RA # 9288 or “The Newborn Screening Act of 2008”. It aims to promote early detection and management of several congenital disorders which may lead to mental retardation or death when left untreated. Early diagnosis of these diseases will prompt early treatment which can improve health outcomes and help ensure normal growth and development. Currently, we have the Expanded Newborn Screening (ENBS) which increased the screening panel of disorders from 6 to 28 conditions. ENBS is done immediately 24 hours at birth where a few drops of blood are taken from the infant’s heel and blotted on a special absorbent paper and submitted to the Newborn Screening Center (NSC) for processing. The disorders that are screened are:

Endocrine Disorders
• Congenital Hypothyroidism
• Congenital Adrenal Hyperplasia

Amino Acid Disorders
• Homocystinuria
• Hypermethioninemia / Methionine AdenosineTransferase Deficiency
• Maple Syrup Urine Disease
• Phenylketonuria
• Tyrosinemia Type I
• Tyrosinemia Type II, III

Fatty Acid Disorders
• Carnitine Palmitoyltransferase I Deficiency
• Carnitine Palmitoyltransferase II Deficiency
• Carnitine Uptake Deficiency
• Glutaric Acidemia Type II
• Long Chain Hydroxyacyl-CoA
• Dehydrogenase Deficiency
• Medium Chain-Acyl-CoA Dehydrogenase Deficiency
• Very Long Chain-Acyl-CoA Dehydrogenase Deficiency
• Trifunctional Protein Deficiency

Organic Acid Disorders
• 3 -Methylcrotnyl CoA Carboxylase Deficiency
• Beta Ketothiolase Deficiency
• Glutaric Acidemia Type I
• Isovaleric Acidemia
• Methylmalonic Acidemia
• Multiple Carboxylase Deficiency
• Propionic Acidemia

Urea Cycle Defect
• Citrullinemia
• Argininosuccinic Aciduria

Hemoglobinopathies
• Alpha Thalassemia
• Beta Thalassemia
• Hemoglobin C
• Hemoglobin D
• Hemoglobin E
• Sickle Cell Disease

Others
• Galactosemia
• Glucose-6-Phosphate Dehydrogenase Deficiency
• Cystic Fibrosis
• Biotinidase Deficiency

These services can be availed upon delivery in accredited facilities such as hospitals, lying-ins, rural health units, health centers and some private clinics. The ENBS costs Php 1750 and is included in the Newborn Care Package (NCP) for Philhealth members. The results will take around 7 - 14 working days to be available - thus it is important for parents to be aware of the possible congenital disorders and exposures to prevent possible exacerbations while waiting for the result. For example, the most common screened disorder in the Philippines is G6PD deficiency. Thus, while waiting for the ENBS results, parents should not expose their baby to naphthalene or moth balls and some herbal medicines. A separate article will discuss the nutritional management of the 4 most common conditions screened in the ENBS Panel: (1) G6PD Deficiency, (2) Congenital Hypothyroidism, (3) Congenital Adrenal Hyperplasia and (4) Maple Syrup Urine Disease.

 

/AET

Reference:


Department of Health (2020). Newborn Screening Program. GOVPH. Retrieved from https://doh.gov.ph/newborn-screening

National Institutes of Health, UP Manila (2020). Save Your Baby From Mental Retardation (Brochure). Newborn Screening Reference Center. Retrieved from https://www.newbornscreening.ph/index.php?option=com_content&view=section&layout=blog&id=5&Itemid=57&limitstart=11

Patel, L. M., Reotutar, L. P., Reotutar, M. J., & Reotutar, A. J. P. (2019). Newborn Screening In The Philippines And India: Its Status And Problems Encountered In The Program. In PROCEEDING SURABAYA INTERNATIONAL HEALTH CONFERENCE 2019 (Vol. 1, No. 1, pp. 419-426).