Newborn Screening in Hong Kong: Practice, Methodologies and Emerging Frontiers
Dr CHAN, Chun Hei Toby
Specialty Coordinator (Chemical Pathology), Education Committee. The Hong Kong College of Pathologists
Volume 21, Issue 2, July 2026 (download full article in pdf)
Editorial note:
Newborn screening (NBS) is one of the most successful public health programmes in modern paediatrics, allowing pre-symptomatic detection and timely treatment of conditions that would otherwise cause death or lifelong disability. Over the past four decades, the Hong Kong NBS programme has evolved from cord-blood screening for 2 conditions into a comprehensive service covering inborn errors of metabolism, severe combined immunodeficiency, spinal muscular atrophy, congenital hypothyroidism and glucose-6-phosphate dehydrogenase deficiency, with a total number of 34 conditions screened. This review revisits the development, laboratory practice and methodologies of NBS in Hong Kong, places it in an international context, and explores emerging developments such as genomic newborn screening and candidate conditions that may be considered for future screening. We welcome any feedback or suggestions. Please direct them to Dr CHAN Chun Hei Toby (e-mail: cch191@ha.org.hk) of Education Committee, the Hong Kong College of Pathologists. Opinions expressed are those of the authors or named individuals, and are not necessarily those of the Hong Kong College of Pathologists.