香港首次针对先天性代谢缺陷进行扩大新生儿筛查以及医护人员相关知识与意见调查的试点研究。
The first pilot study of expanded newborn screening for inborn errors of metabolism and survey of related knowledge and opinions of health care professionals in Hong Kong.
作者信息
Mak C M, Law E Cy, Lee H Hc, Siu W K, Chow K M, Au Yeung S Kc, Ngan H Ys, Tse N Kc, Kwong N S, Chan G Cf, Lee K W, Chan W P, Wong S F, Tang M Hy, Kan A Sy, Hui A Pw, So P L, Shek C C, Lee R Sy, Wong K Y, Yau E Kc, Poon K H, Siu S, Poon G Wk, Kwok A Mk, Ng J Wy, Yim V Cs, Ma G Gy, Chu C H, Tong T Y, Chong Y K, Chen S Pl, Ching C K, Chan A Ok, Tam S, Lau R Lk, Ng W F, Lee K C, Chan A Yw, Lam C W
机构信息
Chemical Pathology Laboratory, Department of Pathology, Princess Margaret Hospital, Kwai Chung, Hong Kong.
Department of Pathology, The University of Hong Kong, Queen Mary Hospital, Pokfulam, Hong Kong.
出版信息
Hong Kong Med J. 2018 Jun;24(3):226-237. doi: 10.12809/hkmj176939. Epub 2018 Jun 4.
INTRODUCTION
Newborn screening is important for early diagnosis and effective treatment of inborn errors of metabolism (IEM). In response to a 2008 coroners' report of a 14-year-old boy who died of an undiagnosed IEM, the OPathPaed service model was proposed. In the present study, we investigated the feasibility of the OPathPaed model for delivering expanded newborn screening in Hong Kong. In addition, health care professionals were surveyed on their knowledge and opinions of newborn screening for IEM.
METHODS
The present prospective study involving three regional hospitals was conducted in phases, from 1 October 2012 to 31 August 2014. The 10 steps of the OPathPaed model were evaluated: parental education, consent, sampling, sample dispatch, dried blood spot preparation and testing, reporting, recall and counselling, confirmation test, treatment and monitoring, and cost-benefit analysis. A fully automated online extraction system for dried blood spot analysis was also evaluated. A questionnaire was distributed to 430 health care professionals by convenience sampling.
RESULTS
In total, 2440 neonates were recruited for newborn screening; no true-positive cases were found. Completed questionnaires were received from 210 respondents. Health care professionals supported implementation of an expanded newborn screening for IEM. In addition, there is a substantial need of more education for health care professionals. The majority of respondents supported implementing the expanded newborn screening for IEM immediately or within 3 years.
CONCLUSION
The feasibility of OPathPaed model has been confirmed. It is significant and timely that when this pilot study was completed, a government-led initiative to study the feasibility of newborn screening for IEM in the public health care system on a larger scale was announced in the Hong Kong Special Administrative Region Chief Executive Policy Address of 2015.
引言
新生儿筛查对于先天性代谢缺陷病（IEM）的早期诊断和有效治疗至关重要。针对2008年验尸官报告的一名14岁男孩死于未确诊的IEM事件，提出了OPathPaed服务模式。在本研究中，我们调查了OPathPaed模式在香港开展扩大新生儿筛查的可行性。此外，还对医疗保健专业人员关于IEM新生儿筛查的知识和意见进行了调查。
方法
本前瞻性研究涉及三家区域医院，于2012年10月1日至2014年8月31日分阶段进行。对OPathPaed模式的10个步骤进行了评估：家长教育、同意、采样、样本发送、干血斑制备与检测、报告、召回与咨询、确诊试验、治疗与监测以及成本效益分析。还评估了一种用于干血斑分析的全自动在线提取系统。通过便利抽样向430名医疗保健专业人员发放了问卷。
结果
总共招募了2440名新生儿进行新生儿筛查；未发现真阳性病例。收到了210名受访者填写完整的问卷。医疗保健专业人员支持开展扩大的IEM新生儿筛查。此外，医疗保健专业人员非常需要接受更多教育。大多数受访者支持立即或在3年内实施扩大的IEM新生儿筛查。
结论
OPathPaed模式的可行性已得到证实。在本试点研究完成时，香港特别行政区行政长官2015年施政报告中宣布了一项由政府主导的倡议，要在公共医疗系统中更大规模地研究IEM新生儿筛查的可行性，这具有重要意义且恰逢其时。
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