Application of copy number variation sequencing in detecting fetal nasal bone dysplasia
Objective To Explore clinical value of copy number variation sequencing(CNV-seq)in detecting fetal nasal bone dysplasia.Methods 160 pregnant women who underwent prenatal ultrasound screening and were found to have abnormalities in fetal nasal bone development in Liuzhou Hospital of Guangzhou Women and Children's Medical Center from August 2018 to December 2019 were selected as research subjects.The differences in detection rate of chromosome abnormalities by chromosome karyotype analysis and by CNV-seq were compared.Results Chromosome karyotype analysis shown that 39 cases of chromosome abnormalities were found,including 32 cases of abnormal number of autosomes,5 cases of abnormal sex chromosomes and 2 cases of chromosomal structural abnormalities.CNV-seq shown that 16 cases of chromosome abnormalities were found,including 9 cases of polymorphisms and 7 cases of confirmed pathogenic CNVs.The detection rate of amniotic fluid chromosome abnormalities in the pregnant women aged 35 years was higher than that in those pregnant women aged＜35 years,and among the pregnant women aged≥35 years,the detection rate of amniotic fluid chromosome abnormalities by chromosome karyotype analysis was higher than that by CNV-seq(x2=15.856 and 20.928 respectively,both P＜0.05).The detection rate of amniotic fluid chromosome abnormalities by chromosome karyotype analysis was higher in the pregnant women with gestational age＜24 weeks than that in those pregnant women with gestational age≥24 weeks,and in those pregnant women with gestational age＜24 weeks,the detection rate of chromosome abnormalities in amniotic fluid by chromosome karyotype analysis was higher than that by CNV-seq(X2=16.979 and 16.311 respectively,both P＜0.05).The detection rate of amniotic fluid chromosome abnormalities by chromosome karyotype analysis in the pregnant women with 2 or more prenatal diagnostic indications was higher than that in those pregnant women with less than 2 prenatal diagnostic indications,while by CNV-seq,the detection rate of chromosome abnormalities in the pregnant women with 2 or more prenatal diagnostic indications was significantly lower than that in those pregnant women with less than 2 prenatal diagnostic indications(X2=9.246 and 10.338 respectively,both P＜0.05).Among the pregnant women with 2 or more indications for prenatal diagnosis,the detection rate of amniotic fluid chromosome abnormalities was higher than that by CNV-seq(x2=27.655,P＜0.05).Conclusion CNV-seq has good application value in the pregnant women who were found to have developmental abnormalities of fetal nasal bone found in prenatal ultrasound screening,which can compensate for shortcomings of chromosome karyotype analysis and help to identify those chromosomal structural abnormalities.
copy number variation sequencingchromosome karyotype analysisfetusnasal bone dysplasiaapplication value
万方数据
维普
