Joshua Hellmann Foundation
Newborn Metabolic Screening Program

夏約書 – 新生兒代謝病篩查計劃

 

JHF_logo_s

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 Sep 2021
最新消息 2021年9月
  • More than 79,440 babies had been screened in JHF-Newborn Metabolic Screening Programme since July 2013.
    自2013年7月起到目前為止已經有多於 79,440名嬰兒參與新生兒代謝病篩查計劃
  • In September 2021, screening for X-linked adrenoleukodystrophy (X-ALD) has been added to the IEM panel, therefore the panel is screening for a total of 31 IEM disorders. The aim is to identify affected infants at the earliest instance, often before they develop any signs or symptoms of the disease and treat them as early as possible so as to achieve a better treatment outcome.
    In addition, screening for spinal muscular atrophy (SMA) and severe combined immunodeficiency (SCID) have also been included in the program in September 2021 to identify the affected patients soon after birth and offer treatment earlier to achieve a better outcome in infants with SMA and SCID.
    腎上腺腦白質失養症 (X-ALD) 在2021 年 9 月被納入代謝疾病篩查，總共 31 種代謝疾病。目的是儘早發現受影響的嬰兒，通常是在他們出現任何症狀之前，並儘早給予治療，以得到更好的治療效果。
    此外，脊髓性肌肉萎縮症 (SMA) 和嚴重複合型免疫缺乏症 (SCID)都在 2021 年 9 月被納入篩查，以便在出生後儘快識別患有 SMA 和SCID的患者並提早提供治療。
  • From November 2017 onwards, we accept all newborn babies including preterm babies, to join the newborn metabolic screening programme. 
    從2017年11月起，我們接受包括早產兒在內的所有新生嬰兒，參加新生兒代謝篩查計劃。
  • Our newborn screening programme provides newborn metabolic disease screening, congenital adrenal hyperplasia screening, and cystic fibrosis screening.
    我們的新生兒篩查項目提供新生兒代謝疾病篩查，先天性腎上腺增生篩查和囊性纖維化篩查。
  • 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 5600 1970 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5600 1970聯絡我們。
  • Brief report Sep 2021
    2021年9月簡報
  • 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
  • Pamphlet of the X-linked adrenoleukodystrophy (X-ALD) 
    腎上腺腦白質失養症 (X-ALD)  – 家長小冊子 繁體 
  • Pamphlet of the spinal muscular atrophy (SMA)
    脊髓性肌肉萎縮症 (SMA) – 家長小冊子 繁體
  • Pamphlet of the severe combined immunodeficiency (SCID)
    嚴重複合型免疫缺乏症 (SCID)– 家長小冊子 繁體
What is Inborn Errors of Metabolism?
什麼是代謝病?

IEMs are genetic defects which prevent some essential enzymes in the body from being produced. As a result, there is deficiency of certain essential components, or accumulation of toxic substances in the body. If these disorders are untreated, they can lead to serious outcomes including learning difficulties, mental retardation, organ dysfunction and even death. Some of these conditions are however potentially treatable nowadays, with effective screening test performed as early as few days after birth.
這是由於遺傳因子缺陷，導致缺乏某種酵素，妨礙了新陳代謝。 影響包括缺乏一些人體必需物質，或導致有毒物質的積聚。如這些疾病未能及早治療，可導致嚴重的後果，包括學習困難，智力偏低，影響人體器官功能，甚至死亡。然而，若在寶寶出生後數天內進行有效的篩查，便可及早治療。

What kinds of IEM are screened?
篩查包括哪些種類的代謝病?

The test screens for 30 IEMs belonging to the following categories:
本篩查包括以下三類約30種代謝病:

  • Amino acid disorders
    氨基酸障礙
  • Fatty acid oxidation disorders
    脂肪酸氧化障礙
  • Organic acid disorders
    有機酸障礙

Please note that not all IEMs can be screened.
代謝病種類繁多，非所有代謝病均納入篩查之內。

Who needs to be screened?
哪些寶寶需要接受篩查?

Every newborn baby is recommended to be screened unless the baby’s health condition is not suitable.
除非寶寶健康狀況並不適合，否則我們建議每位新生寶寶都接受篩查。

How to screen for and diagnose IEM?
怎樣篩查和診斷代謝病?

A few drops of blood are collected onto a card by pricking the baby’s heel after completing oral feeding for 1 day, and up to the 7th day of life. Results will be available within a few days.
只需在寶寶腳部穿刺收集幾滴血液於卡紙上即可用於檢測。寶寶吃奶滿1天后至出生後第7天之內可隨時抽血。只需幾天時間便可得知檢測結果。

How accurate is the screening?
篩查的準確性如何?

The accuracy for the screened IEMs is high. Similar to any laboratory screening test, there is a small chance that some affected infants may be missed (false negatives), while some unaffected infants may be wrongly identified (false positives). Therefore, it is extremely important that all abnormal screening results should be followed by standard diagnostic tests for confirmation.
代謝病篩查的準確性很高。可是，與其他任何一種化驗室篩查技術一樣，在極少的情況下，有些患病的寶寶未能被檢出 (假陰性)，而有些健康的寶寶則會被懷疑患病 (假陽性)。所以，對於所有異常的篩查結果，我們都要進行診斷性的檢測來確認寶寶是否患病。

How are results reported?
篩查結果如何報告？

Results from the screening will be reported as either:
篩選結果將報告為：

Normal 正常
This indicates that the baby has a very low chance of having one of the 30 IEMs. The majority of babies (98-99%) will have a normal result.
這表示寶寶患有其中一種代謝病的風險很低。絕大多數寶寶(98-99%) 的篩查結果都是正常的。

Positive 陽性 
This indicates that the baby is at risk of having an IEM. Immediate referral to a Paediatrician for clinical evaluation, further diagnostic workup and management are needed.
這表示寶寶患有代謝病的風險很高。應立即轉診到兒科進行臨床評估，並接受進一步診斷性的檢查和治療。

Uncertain 不確定 
This indicates that the sample analysis is inconclusive and a new sample is needed. This may happen in about 1% of all screened babies. Parents of babies with an ‘uncertain result’ will be contacted to arrange for another sample to be taken.
這表示樣本分析結果不能確定，另需要新樣本再作篩查。這種結果的發生率為1%左右。我們將聯絡父母來安排新生兒重新抽取血樣。

Why do we do it on blood?
為什麼我們選擇用血液樣本?
  Blood
血液樣本		 Urine
尿液樣本
International gold standard
國際黃金標準		 Yes
有		 No
沒有
Large worldwide databases of reference ranges and decision cut-offs
全球大型參考範圍和決策指標數據庫		 Yes
有		 No
沒有
False positive rate (i.e. re-call  rate)
假陽性率（即覆核篩檢叫率）		 Very low
非常低		 Uncertain
不確定
Internationally agreed target  diseases
國際認同的目標篩檢疾病		 Yes
有		 No
沒有
  • We may see slightly abnormal newborn screening results in healthy babies. We call them false positives. Babies with such results have to undergo further confirmatory investigations including blood tests and urine tests to rule out the condition. Therefore false positive results create enormous anxiety to parents.
    在健康嬰兒中，我們可能看到輕微的異常新生兒篩查結果，我們稱之為假陽性篩查結果。有這些結果的嬰兒必須進行進一步的驗證性檢查，包括血液測試和尿液測試，以排除患病情況。因此，假陽性結果對父母造成巨大的焦慮。
  • Proper selection of target diseases is crucial, because
    正確選擇目標疾病是非常重要的，因為

    • Some IEMs have onset later in life and are untreatable. Making the diagnosis too early only creates insurance issue and psychological burden to the family.
      有這些結果的嬰兒必須進行進一步的驗證性檢查，包括血液測試和尿液測試，以排除患病情況。
    • Some IEMs are very mild and does not require treatment or long-term follow-up.
      另有一些代謝情況是相對輕微的，不需要特別治療或長期覆診的。
  • Some important IEMs (e.g. carnitine uptake defect) only produce abnormal metabolites in blood.
    有一些重要的代謝病（例如:肉鹼攝取缺陷症）僅能在血液中量度代謝物異常水平，只有血液樣本才能篩查
Enquiries 查詢

The CUHK-BCM Joint Centre for Medical Genetics
The Chinese University of Hong Kong
香港中文大學
(852) 5600 1970 (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

Pamphlet of the X-linked adrenoleukodystrophy (X-ALD) 
     腎上腺腦白質失養症 (X-ALD)  – 家長小冊子 繁體 

Pamphlet of the spinal muscular atrophy (SMA)
     脊髓性肌肉萎縮症 (SMA) – 家長小冊子 繁體

Pamphlet of the severe combined immunodeficiency (SCID)
     嚴重複合型免疫缺乏症 (SCID)– 家長小冊子 繁體

The list of IEMs being screened in this program
      新生兒代謝病篩查計劃所包括的代謝病列表

The latest doctor protocol (version 10) (Sep 2021)
     最新醫生手冊 (protocol_v10) (2021年9月)

Brief report June 2019
     2019年6月簡報

Supplementary notes of blood spot quality

 

To request collection cards and request forms please call (852) 6806 4590 (Mr. Ho) 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(852)6806 4590(何先生)
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.
此項篩查計劃是由夏約書孤兒症基金會資助。此篩查計劃已經於2013年7月開始推行。