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; 赵君; 高华方; 马旭

doi:10.11852/zgetbjzz2019-0584

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

综述

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

作者信息 +

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

Author information +

文章历史 +

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。

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.

导出引用

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 https://doi.org/10.11852/zgetbjzz2019-0584

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]. Chinese Journal of Child Health Care. 2020, 28(3): 281-283 https://doi.org/10.11852/zgetbjzz2019-0584

中图分类号： R722.1

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