Objective To explore the value of low depth whole genome copy number variation sequencing(CNV-Seq)detection technology in prenatal diagnosis of high risk fetuses in noninvasive prenatal screening with normal ultrasonography.Methods A total of 256 pregnant women with high risk of noninvasive prenatal screening and normal ultrasound findings who visited the prenatal diagnosis center of Maternal and Child Health Hospital of Zhangjiakou from January 2019 to May 2022 were selected as the study subjects.All pregnant women voluntarily underwent amniocentesis.CNV-seq and chromosome karyotype analysis were used for prenatal diagnosis,and the results of the two methods were compared and followed up for analysis.Results There were 110 cases of abnormal karyotype detected by chromosome karyotype analysis of amniotic fluid,and the calculated abnormal detection rate was 42.97%.All amniotic fluid samples were tested successfully by CNV-seq.A total of 116 cases of pathogenic CNVs were detected,10 cases were likely benign/benign,44 cases were VOUS,and 86 cases were not abnormal,with an abnormal detection rate of 45.31%.In 11 cases,the results of CNV-seq analysis were inconsistent with the results of fetal chromosome karyotype analysis,2 cases of abnormal chromosome number combined with abnormal structure were found to be chromosomal aneuploidy by CNV-seq analysis.There were 9 cases with abnormal chromosome structure,CNV-seq analysis was used to accurately locate the abnormal fragments.There were 8 cases of inconsistency between the two detection results,and 1 case of chimeric non-homologous Robinson translocation was detected by karyotype analysis,but missed by CNV-seq analysis.2 cases of cell culture failure,5 cases of chromosome karyotype analysis were normal,by the CNV-seq detection showed that all were pathogenic chromosomal abnormalities.Conclusion Compared with conventional chromosome karyotype analysis,CNV-Seq can more specifically and efficiently detect pathogenic genomic CNV of fetuses with high risk of noninvasive prenatal screening and normal ultrasonographic manifestations.It is an effective supplement to the current clinical prenatal diagnosis technology.
CNV-seqchromosome karyotype analysishigh risk of noninvasive prenatal screeningprenatal diagnosis
NETL
NSTL
万方数据
维普
