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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.
Insights
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.
Introduction:
No universal expanded newborn screening service for inborn errors of metabolism is available in Hong Kong despite its long history in developed western countries and rapid development in neighbouring Asian countries. To increase the local awareness and preparedness, the Centre of Inborn Errors of Metabolism of the Chinese University of Hong Kong started a private inborn errors of metabolism screening programme in July 2013. This study aimed to describe the results and implementation of this screening programme.
Methods:
We retrieved the demographics of the screened newborns and the screening results from July 2013 to July 2016. These data were used to calculate quality metrics such as call-back rate and false-positive rate. Clinical details of true-positive and false-negative cases and their outcomes were described. Finally, the call-back logistics for newborns with positive screening results were reviewed.
Results:
During the study period, 30 448 newborns referred from 13 private and public units were screened. Of the samples, 98.3% were collected within 7 days of life. The overall call-back rate was 0.128% (39/30 448) and the false-positive rate was 0.105% (32/30 448). Six neonates were confirmed to have inborn errors of metabolism, including two cases of medium-chain acyl-coenzyme A dehydrogenase deficiency, one case of carnitine-acylcarnitine translocase deficiency, and three milder conditions. One case of maternal carnitine uptake defect was diagnosed. All patients remained asymptomatic at their last follow-up.
Conclusion:
The Centre of Inborn Errors of Metabolism has established a comprehensive expanded newborn screening programme for selected inborn errors of metabolism. It sets a standard against which the performance of other private newborn screening tests can be compared. Our experience can also serve as a reference for policymakers when they contemplate establishing a government-funded universal expanded newborn screening programme in the future.
