Newborn screening in 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.