新生儿遗传代谢病筛查结果影响因素及存在问题研究进展

doi:10.11852/zgetbjzz2019-0584

中国儿童保健杂志 ›› 2020, Vol. 28 ›› Issue (3): 281-283.DOI: 10.11852/zgetbjzz2019-0584

新生儿遗传代谢病筛查结果影响因素及存在问题研究进展

张月^1,2, 赵君², 高华方^1,2, 马旭²

1 北京协和医学院研究生院,北京 100730;
2 国家卫生健康委科学技术研究所,北京 100081

收稿日期:2019-04-28 发布日期:2020-03-10 出版日期:2020-03-10
通讯作者: 赵君,E-mail:zj@e-health.org.cn
作者简介:张月(1994-),女,黑龙江人,在读硕士研究生,主要研究方向为遗传学专业。
基金资助:
国家重点研发计划课题(2016YFC1000307);国家科技资源共享服务平台(2005DKA21300,2005DKA32408)

Research progress on the influencing factors and existing problems of screening results of neonatal inherited metabolic diseases

ZHANG Yue^1,2, ZHAO Jun², GAO Hua-fang^1,2, MA Xu²

1 Graduate School of Peking Union Medical College, Beijing 100730, China;
2 National Research Institute for Family Planning, Beijing 100081, China

Received:2019-04-28 Online:2020-03-10 Published:2020-03-10
Contact: ZHAO Jun, E-mail: zj@e-health.org.cn

摘要/Abstract

摘要： 本文概述了目前我国新生儿遗传代谢病(IMD)筛查的现状,主要对筛查结果的影响因素进行了归纳,并对筛查过程中存在的新生儿血片采集时间不合理、筛查指标切值不规范、筛查阳性新生儿召回率低等突出问题做了总结,旨在为我国新生儿IMD筛查工作的规范开展提供借鉴和参考。

关键词: 新生儿, 遗传代谢病, 筛查

Abstract: This paper summarizes the current situation of inherited metabolic disease (IMD) screening for neonates in China,combs the influencing factors for screening results and the prominent problems in the screening process,such as unreasonable neonatal blood collection time,the non-standard screening index of cut-off value and low recall rate of positive screening newborns,thereby providing reference for the standardization of IMD screening for neonates in China.

Key words: newborn, inherited metabolic disease, screening

中图分类号:

R722.1

张月, 赵君, 高华方, 马旭. 新生儿遗传代谢病筛查结果影响因素及存在问题研究进展[J]. 中国儿童保健杂志, 2020, 28(3): 281-283.

ZHANG Yue, ZHAO Jun, GAO Hua-fang, MA Xu. Research progress on the influencing factors and existing problems of screening results of neonatal inherited metabolic diseases[J]. journal1, 2020, 28(3): 281-283.

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新生儿遗传代谢病筛查结果影响因素及存在问题研究进展

Research progress on the influencing factors and existing problems of screening results of neonatal inherited metabolic diseases

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