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

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.