Application of CNVplex combined with STR assay for genetic etiology exploration in chorionic villus of recurrent spontaneous abortion / 重庆医学

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.