重庆医学2017，Vol.46Issue(4)：446-449,452,5.DOI:10.3969/j.issn.1671-8348.2017.04.005
CNVplex联合STR技术在复发性流产遗传学查因中的应用
Application of CNVplex combined with STR assay for genetic etiology exploration in chorionic villus of recurrent spontaneous abortion
摘要
Abstract
Objective The study is to present a novel assay for rapid detection of fetal aneuploidies in chorionic villus for spontaneous abortion.Methods Fetal chorionic villus samples were collected from 60 cases of women diagnosed with recurrent spontaneous abortion (RSA) before 13 weeks gestation.All samples were analyzed using CNVplex (copy numbcr variations multiplex) assay and fluorescence in situ hybridization (FISH) in addition to chromosome analysis.All villi specimens were cell cultured and karyotyped to confirm the fetal chromosomal status.Results Among 48 successfully cultured and karyotyped samples,the chromosomal abnormality rate was 60.42 ％.The results of karyotyping and the CNVplex assay were identical,both yielding 20 cases of euploidies,23 autosomal aneuploidies,3 triplodies and 2 × monosomies(Tumer Syndrome).However,FISH obtained only 38 results identical to karyotyping.Two cases of deletion and duplication of chromosome were also identified by CNVplex but not always by karyotyping.As for non-mosaic and non structural abnormity samples,the concordance between cytogenetics and genoty ping was 100％ in CNVplex and 79.17％ in FISH.Conclusion With CNVplex combined with STR(short tandem repeat) assay,we can detect the aneuploidy abnormalities as effectively as routine karyotyping without the need for cell culture,while also analyzing deletions and duplications(larger than 5 Mbp) that are not always detected by karyotype analysis.Our study demonstrates that CNVplex assay is an efficient,convenient,and accurate method to explore the etiology of miscarriage.关键词
绒毛膜绒毛/流产,习惯性/染色体/非整倍体/核型分析/拷贝数变化Key words
chorionic villus/abortion, habitual/chromosome, aneuploidy/karyotyping/copy number variation分类
医药卫生引用本文复制引用
杨岚,杨月芬,王俏霞,许逸琴,杨灿锋,肖建平..CNVplex联合STR技术在复发性流产遗传学查因中的应用[J].重庆医学,2017,46(4):446-449,452,5.基金项目
无锡市医管中心面上项目(YGZXM1510) （YGZXM1510）
江苏省妇幼保健重点资助项目(F201315) （F201315）
无锡市科技发展基金项目(CSE31N1511). （CSE31N1511）
