Chong S C, Law L K, Hui J, Lai C Y, Leung T Y, Yuen Y P
Centre of Inborn Errors of Metabolism, The Chinese University of Hong Kong, Shatin, Hong Kong.
Department of Paediatrics, The Chinese University of Hong Kong, Shatin, Hong Kong.
Hong Kong Med J. 2017 Oct;23(5):489-96. doi: 10.12809/hkmj176274. Epub 2017 Sep 1.
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.
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.
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.
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.
尽管在西方发达国家新生儿代谢性疾病的普遍扩大筛查服务已有很长历史，且在亚洲邻国发展迅速，但香港仍未提供此类服务。为提高本地的认识和准备程度，香港中文大学先天性代谢缺陷中心于2013年7月启动了一项私立先天性代谢缺陷筛查计划。本研究旨在描述该筛查计划的结果和实施情况。
我们检索了2013年7月至2016年7月期间筛查新生儿的人口统计学数据和筛查结果。这些数据用于计算诸如召回率和假阳性率等质量指标。描述了真阳性和假阴性病例的临床细节及其结果。最后，回顾了筛查结果为阳性的新生儿的召回流程。
在研究期间，对来自13个私立和公立单位转诊的304４8名新生儿进行了筛查。其中，98.3%的样本在出生后7天内采集。总体召回率为0.128%（39/30448），假阳性率为0.105%（32/30448）。6名新生儿被确诊患有先天性代谢缺陷，包括2例中链酰基辅酶A脱氢酶缺乏症、1例肉碱-酰基肉碱转位酶缺乏症和3例病情较轻的病例。诊断出1例母体肉碱摄取缺陷病例。所有患者在最后一次随访时均无症状。
先天性代谢缺陷中心已为选定的先天性代谢缺陷建立了全面的扩大新生儿筛查计划。它设定了一个标准，可据此比较其他私立新生儿筛查测试的表现。我们的经验也可为政策制定者未来考虑建立政府资助的普遍扩大新生儿筛查计划提供参考。
