Newborn Screening (Inborn Errors of Metabolism / Rare Diseases)

With the advancement of testing technology, not only can we assess the risk of specific rare diseases in babies through prenatal carrier screening, we can also consider screening newborn babies (usually within the first week of birth) to detect whether they carry any hereditary diseases (including rare and common diseases, depending on the scope of screening). Such early diagnosis can help improve treatment efficacy and disease management and offer greater protection for the health and development of the baby.

In Hong Kong, both public and private medical institutions have launched newborn screening programmes. The following are some examples for reference:

“Newborn Screening Programme for Inborn Errors of Metabolism” (Public, Free of Charge):

• Hong Kong Children’s Hospital – Metabolic Medicine
• Pamphlet of the Newborn Screening Programme for Inborn Errors of Metabolism of the Department of Health

“Joshua Hellmann Foundation Newborn Metabolic Screening Program” (Private, Fee-paying):

• “Joshua Hellmann Foundation Newborn Metabolic Screening Program” of the Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong & New Territories East Cluster