Effect of the chromosome karyotype analysis of amniotic fluid cells combined with the number variation sequencing of preg-nant women for diagnosing their prenatal fetal congenital abnormalities
Effect of the chromosome karyotype analysis of amniotic fluid cells combined with the number variation sequencing of preg-nant women for diagnosing their prenatal fetal congenital abnormalities
Objective:To explore the application effect of the chromosome karyotype analysis of amniotic fluid cells combined with the number variation sequencing(CNV-Seq)of pregnant women for diagnosing their prenatal fetal con-genital abnormalities.Methods:90 pregnant women who underwent amniocentesis due to the abnormal development of fetus were selected as the research subjects from January 2023 to December 2023.All of these women underwent the CNV-Seq and the chromosome karyotype analysis of their amniotic fluid cells.Results:These women had no failure of CNV-Seq,and a total of 90 reports of the women were obtained.Among them,there were 9 cases with the abnormal chromosome＞100kb and the aneuploidy,with the detection rate of 10.0％.Among 9 pregnant women with abnormal fetal chromosome,there were 5 cases with the aneuploidy,2 cases with the pathogenicity of aneuploidy,1 case with the suspected pathogenicity of aneuploidy and 1 case with chimera.5 cases with the fetal aneuploidy included trisomy 13(1 case),trisomy 21(2 cases),45,X(1 case)and 47,XXY(1 case).The amniotic fluid cells of 90 pregnant women were successfully cultured.The karyotyping reports indicated that there were 8 women with the fetal chromosome ab-normalities,with the detection rate of 8.9％,and among them,there were 5 cases with the number abnormalities of fetal chromosome,2 cases with the structural abnormalities of fetal chromosome and 1 case with the fetal chromosomal chimaera.Among the pregnant women with the abnormalities of fetal chromosome number,there was 1 case with tri-somy 13,2 cases with trisomy 21,1 case with 45,X and 1 case with 47,XXY.In 90 pregnant women who had under-went CNV-Seq and chromosome karyotyping of the amniotic fluid cell simultaneously,there were 7 cases with the fetal chromosome abnormalities,accounting for 7.8％,and among them,there were 5 cases with the fetal chromosomal number abnormalities and aneuploid and 2 cases with the other fetal chromosomal abnormalities.2 women with the fe-tal pathogenic chromosomal abnormality were found by CNV-Seq,but which had not been found by karyotyping.1 woman with the fetal pathogenic chromosomal abnormality was found by karyotyping was found to be pathogenicor po-tentially pathogenic by karyotyping,but which had not been found by CNV-Seq.Conclusion:CNV-Seq combined with the chromosomal karyotype detection of the amniotic fluid cell for the genetic detection of the fetuses with congenital abnormalities has good effect,and which can improve the detective accuracy of the fetuses with congenital abnormali-ties.
关键词
产前诊断/基因组拷贝数变异测序/羊水细胞染色体核型/遗传学分析/异常胎儿
Key words
Prenatal diagnosis/Copy number variation sequencing/Chromosomal karyotyping of amniotic fluid cell/Genetics analysis/Abnormal fetus
维普
万方数据