基因检测在新生儿常见单基因遗传病筛查中的应用

doi:10.3969/j.issn.2095-5340.2023.05.009

发育医学电子杂志

2023, Vol. 11

Issue (5): 377-383 DOI: 10.3969/j.issn.2095-5340.2023.05.009

围产医学综述｜新生儿

基因检测在新生儿常见单基因遗传病筛查中的应用

张巧　曾雯　祝建疆　戚红

（北京市海淀区妇幼保健院　产前诊断中心，北京100080）

Application of genetic testing for newborn screening of common monogenic disease

Zhang Qiao, Zeng Wen, Zhu Jianjiang, et al

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摘要　出生缺陷三级预防是针对新生儿进行先天性疾病筛查和诊断，对出生缺陷患儿能够早发现、早诊断，更早地救治与康复，预防和减少儿童残疾。传统的新生儿筛查（newborn screening，NBS）以遗传代谢病为主，对特异代谢物的生化指标进行筛查，具有简单、快速和方便的优势，但也存在如下问题：①代谢物或酶活性通常受多种因素影响，易产生假阳性和假阴性结果^［1］；②某些疾病在常规生化筛查的时间窗口内不能出现明显症状；③筛查的病种不够多，某些可防可治的或发病率较高的疾病由于缺乏特异性代谢物或生化标志物，无法纳入筛查体系^［2］；④生化技术无法进行精准的分型诊断，疑似阳性的患者需召回再行基因检测，可能导致早发重症患儿错失最佳诊治时机等^［3］。在生化代谢物筛查的基础上开展基因筛查已成为今后NBS 的趋势。

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关键词: 新生儿筛查单基因遗传病遗传咨询高通量测序

收稿日期: 2023-06-12 出版日期: 2023-09-30 发布日期: 2023-09-27 期的出版日期: 2023-09-30

通讯作者: 戚红 E-mail: qihong_2009@sina.com

引用本文:

张巧　曾雯　祝建疆　戚红. 基因检测在新生儿常见单基因遗传病筛查中的应用[J]. 发育医学电子杂志, 2023, 11(5): 377-383.
Zhang Qiao, Zeng Wen, Zhu Jianjiang, et al. Application of genetic testing for newborn screening of common monogenic disease. Journal of Developmental Medicine(Electronic Version), 2023, 11(5): 377-383.

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http://www.fyyxzz.com/CN/10.3969/j.issn.2095-5340.2023.05.009 或 http://www.fyyxzz.com/CN/Y2023/V11/I5/377

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