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
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics(2021)
Abstract
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。
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Key words
Non-invasive prenatal screening,Genomic disorder,Pathogenic copy number variation,Technological standard
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