Newborn screening in the Philippines

Carmencita David Padilla1

  • 1Department of Pediatrics, UP College of Medicine, University of the Philippines Manila.

Insights

Newborn screening in the Philippines began in 1996, initially for five metabolic disorders. Expanded to include glucose-6-phosphate dehydrogenase deficiency, the program now aims for nationwide implementation.

Area of Science:

  • Public Health
  • Pediatrics
  • Genetics

Background:

  • Newborn screening was introduced in the Philippines in 1996 by the Newborn Screening Study Group.
  • The program aimed to determine the incidence of six metabolic conditions and advocate for national adoption.

Purpose of the Study:

  • To establish the incidence of congenital hypothyroidism, congenital adrenal hyperplasia, galactosemia, phenylketonuria, homocystinuria, and glucose-6-phosphate dehydrogenase deficiency.
  • To provide recommendations for the nationwide implementation of newborn screening.

Main Methods:

  • The program evolved through three phases, starting with five disorders and later adding glucose-6-phosphate dehydrogenase deficiency screening.
  • Screening protocols were refined, including reducing the required sample collection age and discontinuing homocystinuria screening due to cost-effectiveness.

Main Results:

  • Data from 201 hospitals reported 48 cases of congenital hypothyroidism, 21 of congenital adrenal hyperplasia, 2 of galactosemia, 4 of hyperphenylalanemia, and 1,495 of glucose-6-phosphate dehydrogenase deficiency.
  • The Department of Health acknowledged the findings, supporting nationwide implementation.

Conclusions:

  • The study demonstrated the feasibility and importance of newborn screening in the Philippines.
  • Efforts are underway to expand the program nationwide based on the collected data and demonstrated impact.

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