>>>JHF – Newborn Metabolic Screening Program
JHF – Newborn Metabolic Screening Program 2018-02-21T14:36:25+00:00

Joshua Hellmann Foundation
Newborn Metabolic Screening Program

夏約書 – 新生兒代謝病篩查計劃



Every parent anticipates the birth of a healthy baby. However, a minority of newborns (1 in 4000) may suffer from ‘inborn Errors of Metabolism’ (IEM), which if left undetected and untreated, could significantly affect the long term health and development of the child. To this end, The Chinese University of Hong Kong (CUHK) now offers an expanded newborn screening program which can provide early detection of an extensive range of metabolic diseases previously untested for in Hong Kong.

每個父母都期望一個健康寶寶的誕生。然而,少數的新生寶寶 (1/4000) 有可能患上被稱為「先天性代謝缺陷」的疾病 (Inborn Errors of Metabolism; 簡稱代謝病或IEM),若未能及早被發現和治療,可以對寶寶的健康和發展帶來嚴重的長期影響。為此,香港中文大學現提供一項新生兒篩查計 劃,旨在早期廣泛診斷出這類未曾在香港地區測試過之代謝病。

Latest Update August 2016
最新消息 2016年8月
  • More than 30,000 babies had been screened in JHF-Newborn Metabolic Screening Programme.
  • Babies with inborn errors of metabolism are identified and follow up at the paediatrics metabolic clinic.
    篩查中有確診患有代謝病的嬰兒, 正在兒科代謝病門診跟進。
  • For interested parents, please contact us at 5569 6412 during office hours within 7 days after baby is delivered.
    有意參加計劃的家長, 請於寶寶出生後7天之內在辦公時間致電5569 6412聯絡我們。
  • Screening of Cystic fibrosis was added to the programme since March 2014.
  • Screening of Congenital adrenal hyperplasia was added to the programme since February 2016.
  • Private clinic (Paediatrician) referral are accepted with prior logistics arrangement. Please refer to the latest protocol (protocol_v7) for further detail.
    本篩查計劃接受私家診所(兒科醫生)轉介,請先聯繫我們作物流安排。詳情請參閱最新醫生協議 (protocol_v7)。
  • Brief report July 2016
  • Pamphlet of the newborn metabolic screening (IEM)
    新生兒代謝病篩查計劃 (IEM) – 家長小冊子   繁體   简体
  • Pamphlet of the CAH screening
    先天性腎上腺皮質增生症 (CAH) – 家長小冊子   繁體   简体
What is Inborn Errors of Metabolism?
What kinds of IEM are screened?
Who needs to be screened?
How to screen for and diagnose IEM?
How accurate is the screening?
How are results reported?
Why do we do it on blood?
Enquiries 查詢

Centre of Inborn Errors of Metabolism
The Chinese University of Hong Kong
(852) 5569 6412 (office hours 辦公時間內)
(852) 3505 4219 (voice mail service available during non-office hours 辦公時間以外設有留言服務)

Downloads 下載區

Newborn Metabolic Screening – Parent Pamphlet 
新生兒代謝病篩查計劃 -家長小冊子   繁體   简体

CAH Screening- Parent Pamphlet 
先天性腎上腺皮質增生症 (CAH) – 家長小冊子   繁體   简体

Cystic fibrosis screening – Parent pamphlet 
囊性纖維化篩查 – 家長小冊子   繁體   简体

The list of IEMs being screened in this program

The latest doctor protocol (version 7)
最新醫生手冊 (protocol_v7)

Brief report July 2016

Supplementary notes of blood spot quality


To request collection cards and request forms please call (852) 3505 2313 (Ms. Mak) or email pdc‑obg@mailserv.med.cuhk.edu.hk.
如要求採集卡 blood collection card及血液測試申請表request form,請致電3505 2313(麥小姐)或電郵 pdc-obg@mailserv.med.cuhk.edu.hk

The screening program is funded by Joshua Hellmann Foundation for Orphan Disease. It commenced in July 2013.