高通量测序技术在无创产前筛查中的临床应用及研究进展

doi:10.3969/j.issn.1673-8640.2016.06.021

检验医学 ›› 2016, Vol. 31 ›› Issue (6): 541-545.DOI: 10.3969/j.issn.1673-8640.2016.06.021

高通量测序技术在无创产前筛查中的临床应用及研究进展

鲍芸, 肖艳群, 王华梁

上海市临床检验中心,上海 200126

收稿日期:2015-08-10 出版日期:2016-06-30 发布日期:2016-07-05
作者简介:null
作者简介：鲍芸,女,1983年生,博士,主要从事临床分子生物学检测及质量控制工作。

通讯作者：王华梁,联系电话：021- 68315622。
基金资助:
上海市卫生和计划生育委员会重要疾病联合攻关项目（2013ZYJB0010）

Application and progress of next-generation sequencing technology in non-invasive prenatal testing

BAO Yun, XIAO Yanqun, WANG Hualiang

Shanghai Center for Clinical Laboratory,Shanghai 200126,China

Received:2015-08-10 Online:2016-06-30 Published:2016-07-05

摘要/Abstract

摘要：

介绍了母体外周血中胎儿游离DNA（cff DNA）及其发现后聚合酶链反应（PCR）技术在产前诊断中的应用。重点从测序技术、数据分析和解读、临床应用现状及质量控制几个方面介绍了新一代高通量测序技术在产前筛查中的研究进展和临床应用,并对高通量测序技术在产前筛查母体癌症检测中的应用作了简单介绍。

关键词: 高通量测序技术, 无创产前筛查, 胎儿游离DNA

Abstract:

This article briefly introduces cell-free fetal DNA（cff DNA） in maternal circulations,followed by polymerase chain reaction（PCR） application in prenatal diagnosis. The paper mainly includes the following aspects： sequencing approach,datum analysis and interpretation,current clinical application as well as quality control. Finally,the paper describes the future applications of next-generation sequencing technology in maternal malignacy determination during prenatal testing.

Key words: Next-generation sequencing technology, Non-invasive prenatal testing, Cell-free fetal DNA

中图分类号:

R446.1

鲍芸, 肖艳群, 王华梁. 高通量测序技术在无创产前筛查中的临床应用及研究进展[J]. 检验医学, 2016, 31(6): 541-545.

BAO Yun, XIAO Yanqun, WANG Hualiang. Application and progress of next-generation sequencing technology in non-invasive prenatal testing[J]. Laboratory Medicine, 2016, 31(6): 541-545.

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高通量测序技术在无创产前筛查中的临床应用及研究进展

Application and progress of next-generation sequencing technology in non-invasive prenatal testing

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