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Expanded newborn metabolic screening programme in Hong Kong: a three-year journey
S C Chong1,2, L K Law1,3, J Hui1,2
1Centre of Inborn Errors of Metabolism, The Chinese University of Hong Kong, Shatin, Hong Kong.
Hong Kong Medical Journal = Xianggang Yi Xue Za Zhi
|September 2, 2017
Summary
Hong Kong established a private newborn screening program for inborn errors of metabolism, detecting six neonates with serious conditions. This initiative provides a benchmark for future universal screening programs.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Hong Kong lacks universal newborn screening for inborn errors of metabolism (IEMs).
- A private IEM screening program was initiated in July 2013 to raise awareness and preparedness.
- This study evaluates the program's implementation and outcomes.
Observation:
- 30,448 newborns were screened between July 2013 and July 2016.
- The call-back rate was 0.128% and the false-positive rate was 0.105%.
- Six neonates were diagnosed with IEMs, including medium-chain acyl-coenzyme A dehydrogenase deficiency and carnitine-acylcarnitine translocase deficiency.
Findings:
- The screening program successfully identified six neonates with IEMs and one case of maternal carnitine uptake defect.
- All diagnosed patients remained asymptomatic at the last follow-up.
- The program established quality metrics for newborn screening.
Implications:
- The program sets a standard for private newborn screening tests in Hong Kong.
- This experience can inform policymakers on establishing a government-funded universal newborn screening program.
- Early detection of IEMs through screening improves patient outcomes.
