中国妇幼健康研究2025，Vol.36Issue(9)：61-67,7.DOI:10.3969/j.issn.1673-5293.2025.09.010
产前诊断领域全外显子组测序的应用现况与未来展望
Current application status and future perspectives of whole exome sequencing in prenatal diagnosis
摘要
Abstract
Birth defects are the leading cause of infant mortality and a critical factor contributing to disability,making their prevention and control a priority for Chinese government.As a key secondary prevention measure,prenatal diagnosis could reduce burden of giving birth by providing essential information for effective prenatal interventions to defected infants.Next generation sequencing(NGS)is a high-throughput DNA sequencing method that allows cost-effective,high-resolution genome testing and effectively complement limitations of karyotyping and chromosomal microarray analysis(CMA).Copy number variant sequencing(CNV-seq)was recommended in 2019 as one of primary genetic testing methods for prenatal diagnosis in China.However,a large proportion of monogenic diseases in infants and young children are primarily caused by single nucleotide variants(SNVs)and insertions/deletions(INDELs),which cannot be diagnosed by CNV-seq.These conditions require whole exome sequencing(WES)for comprehensive testing at the nucleotide level.As a result,WES has been increasingly applied in prenatal diagnosis.Nevertheless,the application of WES in prenatal diagnosis still faces certain challenges due to limitations of the technology itself and comprehensiveness of the gene-disease spectrum.In the future,as genetic testing technology advances and our understanding of the mechanisms underlying occurrence and development of birth defects deepens,a personalized diagnostic approach is expected to be developed.This diagnostic approach will more accurately match clinical phenotypes with genetic testing technologies.关键词
出生缺陷/产前诊断/二代测序/全外显子组测序/无创产前检测Key words
birth defect/prenatal diagnosis/next generation sequencing/whole exome sequencing/non-invasive prenatal testing分类
医药卫生引用本文复制引用
朱思静,甄帅,牛惠,强荣,冯佳圆,李晓雪,方柳,杨寅,杨文方..产前诊断领域全外显子组测序的应用现况与未来展望[J].中国妇幼健康研究,2025,36(9):61-67,7.基金项目
国家自然科学基金资助项目(81602295) （81602295）
陕西省重点研发计划项目(2023-YBSF-232). （2023-YBSF-232）
