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大规模平行测序技术应用于唐氏综合征筛查安全性与有效性的系统综述

梅琳 金嘉杰 陈英耀 黄葭燕

中国卫生资源2016,Vol.19Issue(3):180-186,7.
中国卫生资源2016,Vol.19Issue(3):180-186,7.DOI:10.13688/j.cnki.chr.2016.15387

大规模平行测序技术应用于唐氏综合征筛查安全性与有效性的系统综述

Systematic review on safety and effectiveness of massively parallel sequencing (MPS) technology screening ;for Down syndrome

梅琳 1金嘉杰 1陈英耀 1黄葭燕1

作者信息

  • 1. 复旦大学公共卫生学院/卫生部卫生技术评估重点实验室,上海 200032
  • 折叠

摘要

Abstract

Objective:To systematically evaluate the safety and effectiveness of MPS technology for Down syndrome screening. Methods:Search of online databases including Cochrane Library,Medline,EMBASE,ISI Web of Science,Biosis previews,Wanfang,CNKI,Biological database and Medical database from January 1st of 1997 to November 7th of 2014 was conducted. According to inclusion and exclusion criteria,literature was selected and then information was extracted,quality was evaluated. Meta-analysis was used to calculate the related indicators for this technology by Stata12.1. Results:A total of 1 401 related papers were identified and 24 of them were chosen for review. The pooled sensitivity was 0.999(95%CI:0.947-1.000);the pooled specificity was 1.000(95%CI:0.998-1.000);the pooled diagnostic OR was 2.5×106(95%CI:2.9×104-2.2×108). Heterogeneity and literature publication bias existed within these studies. Conclusion:MPS technology has a very significant safety and effectiveness value for Down syndrome screening. However,the technology itself has certain limitations. It is suggested to guard against the lack of criteria in the process of utilization.

关键词

唐氏综合征/MPS技术/安全性与有效性/系统综述/Meta分析

Key words

Down syndrome/massively parallel sequencing technology/safety and effectiveness/systematic review/Meta-analysis

分类

医药卫生

引用本文复制引用

梅琳,金嘉杰,陈英耀,黄葭燕..大规模平行测序技术应用于唐氏综合征筛查安全性与有效性的系统综述[J].中国卫生资源,2016,19(3):180-186,7.

中国卫生资源

OA北大核心CSTPCD

1007-953X

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