The Official Publication of Volunteer Youth Leaders for Health - Philippines

Enhancing Case Detection of Selected Inherited Disorders through Expanded Newborn Screening in the Philippines

Health Promotion Update No. 1 – Series 2013
Health Promotion and Advocacy Working Group

Acta Medica Philippina 47(1) 2013

Carmencita D. Padilla*1,2
*Tomas B. Aguirre Professorial Chair in Pediatrics

1Department of Pediatrics, College of Medicine and Philippine General Hospital, University of the Philippines Manila
2Newborn Screening Reference Center, National Institutes of Health, University of the Philippines Manila

Background. Newborn screening in the Philippines currently includes screening for 6 disorders – congenital hypothyroidism (CH), congenital adrenal hyperplasia (CAH), phenylketonuria (PKU), glucose-6-phosphate dehydrogenase (G6PD) deficiency, galactosemia (GAL) and maple syrup urine disease (MSUD). With improved newborn screening technologies, the potential of screening more than 70 disorders has become a possibility. Worldwide, there has been a move towards increasing the number of disorders included in newborn screening panels. The California Newborn Screening Program (CNSP) screens for over 70 disorders and its database includes a large number of Filipino newborns.

Objectives.  To describe the profile of Filipino newborns screened through the CNSP and to extrapolate these data to the Philippine newborn population in order to assess the potential value of expanding the Philippine newborn screening program.

Methods.  The newborn screening database of the CNSP was reviewed. Projections based on the California data were made relative to expanded newborn screening and related outcomes in the Philippines.

Results. From 2005 to 2011, a total of 3,460,839 newborns were screened in the CNSP which included 111,127 Filipinos. Among the Filipinos, there were 199 confirmed having one of the screened disorders categorized as follows: endocrinologic disorders (51); hemoglobinopathies (109); amino acid disorders (6); organic acid disorders (7); fatty acid disorders (10); and other disorders (16). Extrapolating these findings to the Philippine newborn population predicts the detection of significant additional cases of screened disorders including:  2180 hemoglobinopathies, 140 organic acid disorders, 200 fatty acid disorders, and 240 other disorders.

Conclusion.  Data from the CNSP show serious disorders detected by newborn screening in Filipino babies that are not currently included in the limited newborn screening program in the Philippines. Expanding the panel of screened disorders to approximate that in the CNSP will result in significant additional case detections in the Philippines that will save lives and reduce unnecessary negative health outcomes through early detection and treatment.

Key Words: newborn screening, expanded newborn screening, Philippine newborn screening program


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