Newborn screening in Singapore

R Joseph1, L Y Ho, J M Gomez

  • 1Department of Neonatology, National University Hospital, Singapore.

Insights

Singapore

Area of Science:

  • Neonatal screening programs
  • Public health initiatives in Singapore
  • Genetic disorder screening

Background:

  • Neonatal screening for G6PD deficiency began in Singapore in 1965.
  • Congenital hypothyroidism screening initiated as a pilot in 1981, nationwide by 1990.
  • Screening involves TSH measurement in cord serum, with treatment initiated within a week of life.

Purpose of the Study:

  • To report on the outcomes and incidence of neonatal screening programs in Singapore.
  • To assess the effectiveness of preventive measures for G6PD deficiency and congenital hypothyroidism.
  • To explore future directions in neonatal screening, including PKU screening.

Main Methods:

  • TSH measurement in cord serum for congenital hypothyroidism screening.
  • Semi-quantitative rapid screening tests for G6PD activity in cord blood.
  • Analysis of screening data from over 400,000 newborns, including specific data from 22,830 newborns at National University Hospital.

Main Results:

  • Screening rates for congenital hypothyroidism are approximately 99.95%, with an incidence of 1 in 3,000.
  • G6PD deficiency incidence: 1.62% overall, 3.15% in males, 0.11% in females.
  • Higher G6PD deficiency incidence observed in Chinese and Malay males compared to Indian males; no kernicterus reported in 20 years.

Conclusions:

  • Preventive measures have successfully eliminated kernicterus in newborns over the past two decades.
  • Ongoing efforts focus on optimizing screening recall rates and reducing hospitalization for G6PD deficiency.
  • Consideration is being given to introducing Phenylketonuria (PKU) screening in Singapore.

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