Mass newborn screening in Singapore.

Area of Science:

• Public Health
• Genetics
• Neonatal Medicine

Background:

• Singapore's high hospital birth rate facilitates mass newborn screening programs.
• Screening for Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency since 1965 has eradicated kernicterus.
• Identified ethnic and sex-linked variations in G6PD deficiency, with the Canton variant being predominant.

Purpose of the Study:

• To review the history and scope of newborn screening in Singapore.
• To highlight the success and ongoing development of neonatal screening initiatives.
• To discuss the potential expansion of newborn screening to include inborn errors of metabolism.

Main Methods:

• Established mass screening for G6PD deficiency since 1965.
• Implemented congenital hypothyroidism screening nationwide in 1990 using TSH levels on cord blood.
• Piloted newborn hearing impairment screening using Transient Evoked Oto-Acoustic Emissions since 1999.

Main Results:

• Successful eradication of kernicterus due to G6PD deficiency screening.
• Congenital hypothyroidism detected at approximately 1 in 3000 births, with timely treatment initiated.
• Hearing impairment requiring intervention identified in about 1 in 1000 births through pilot programs.

Conclusions:

• Singapore's comprehensive newborn screening programs have significantly improved neonatal health outcomes.
• Ongoing efforts aim to expand screening to cover more conditions and establish robust epidemiologic data.
• The success of current programs supports consideration for mass screening for inborn errors of metabolism.