Value of CNV-seq combined with karyotype analysis in prenatal diagnosis of fetal chromosome abnormalities
Objective To investigate the value of genome copy number variation sequencing(CNV-seq)combined with karyotype analysis technology in prenatal diagnosis of fetal chromosome abnormalities.Methods A retrospective study was conducted on 107 pregnant women who underwent amniocentesis and were indicated to have copy number variation(CNV)from June 2019 to June 2022 at the department of prenatal diagnosis,Mianyang People's Hospital.All participants underwent both CNV-seq testing and karyotype analysis.Results In the amniotic fluid samples of 107 pregnant women,karyotype analysis identified 58 cases(54.21％)of fetal karyotype abnormalities,including 36 cases(62.07％)of numerical abnormalities,11 cases(18.97％)of structural abnormalities and 11 cases(18.97％)of mosaicism.CNV-seq testing successfully confirmed all 58 karyotype abnormalities identified by karyotype analysis.Among these,54 cases(93.10％)were pathogenic,and 4 cases(6.90％)had unknown clinical significance.Additionally,CNV-seq detected 13 cases of mosaicism,including 2 cases(less than 10％)that were not detected by karyotype analysis.In the 49 amniotic fluid samples with normal karyotypes,CNV-seq identified 20 cases(40.82％)of pathogenic variants,23 cases(46.94％)of variants of unknown clinical significance,2 cases(4.08％)of likely benign variants,1 case(2.04％)of likely pathogenic variants and 3 cases(6.12％)of benign variants.The positive rate of fetal chromosomal abnormalities using karyotype analysis was significantly lower than that of CNV-seq and the combined testing method(x2=115.654,P＜0.05).There were no statistically significant differences in the detection rates for chromosomal numerical abnormalities,structural abnormalities,and mosaicism among the three testing methods(P＞0.05).Conclusion In the prenatal diagnosis of fetal chromosome abnormalities,CNV-seq can effectively and specifically detect pathogenic genomic CNVs that cannot be identified by karyotype analysis.This provides more detailed reference information for prenatal genetic counseling.
genome copy number variation sequencingkaryotype analysischromosome abnormalityprenatal diagnosis
万方数据
维普
