孕妇外周血浆胎儿游离DNA高通量测序筛查致病性拷贝数变异的技术标准共识  

Consensus on technological standards for non-invasive prenatal screening of pathogenic copy number variations by high-throughput sequencing of maternal plasma cell-free DNA

作　　者：刘维强[1] 杨洁霞[2] 章钧[3] 卢建[2] 陈样宜 朱红敏 向嘉乐 王游声[2] 汪敏 王娟 伍启熹 尹爱华[2] Liu Weiqiang;Yang Jiexia;Zhang Jun;Lu Jian;Chen Yangyi;Zhu Hongmin;Xiang Jiale;Wang Yousheng;Wang Min;Wang Juan;Wu Qixi;Yin Aihua(The Third Affiliated Hospital of Guangzhou Medical University,Guangzhou,Guangdong 510150,China;Guangdong Provincial Women and Children’s Health Care Hospital,Guangzhou,Guangdong 510010,China;The Third Affiliated Hospital of Sun Yat-sen University,Guangzhou,Guangdong 510630,China;CapitalBio Genomics Co.,Ltd.,Dongguan,Guangdong 523808,China;Berry Genomics Corporation,Beijing 100015,China;BGI Genomics,BGI-Shenzhen,Shenzhen,Guangdong 518083,China;Illumina(China)Scientific Co.,Ltd.,Beijing 100176,China;Annoroad Gene Technology(Beijing)Co.,Ltd.,Beijing 100176 China;Beijing USCI Medical Laboratory,Beijing 100195,China)

机构地区：[1]广州医科大学附属第三医院,广州510150 [2]广东省妇幼保健院,广州510010 [3]中山大学附属第三医院,广州510630 [4]东莞博奥木华基因科技有限公司,523808 [5]北京贝瑞和康生物技术有限公司,北京100015 [6]深圳华大基因股份有限公司,518083 [7]因美纳(中国)科学器材有限公司,北京100176 [8]安诺优达基因科技(北京)有限公司,北京100176 [9]北京优迅医学检验实验室有限公司,北京100195

出　　处：《中华医学遗传学杂志》2021年第7期613-619,共7页Chinese Journal of Medical Genetics

基　　金：国家重点研发计划(2016YFC1000703);广东省自然科学基金(2019A1515011302)。

摘　　要：由致病性拷贝数变异(pathogenic copy number variations,pCNV)导致的基因组病是出生缺陷的一个重要遗传学病因。近年来,随着基于孕妇血浆胎儿游离DNA高通量测序技术的发展、生物信息分析流程的完善以及大样本数据的积累,无创产前筛查(noninvasive prenatal screening,NIPS)胎儿pCNV疾病已开始应用于临床,国内对此技术的规范应用亟需专业的指导意见。基于此,本组专家就筛查的目标疾病和全流程临床规范应用细节达成技术共识,以期达到NIPS筛查pCNV疾病规范应用的目的。Genomic disorders caused by pathogenic copy number variation(pCNV)have proven to underlie a significant proportion of birth defects.With technological advance,improvement of bioinformatics analysis procedure,and accumulation of clinical data,non-invasive prenatal screening of pCNV(NIPS-pCNV)by high-throughput sequencing of maternal plasma cell-free DNA has been put to use in clinical settings.Specialized standards for clinical application of NIPS-pCNV are required.Based on the discussion,10 pCNV-associated diseases with well-defined conditions and 5 common chromosomal aneuploidy syndromes are recommended as the target of screening in this consensus.Meanwhile,a standardized procedure for NIPS-pCNV is also provided,which may facilitate propagation of this technique in clinical settings.

关 键 词：无创产前筛查 基因组病 致病性拷贝数变异 技术标准 

分 类 号：R714.5[医药卫生—妇产科学]