Objective To perform karyotype analysis,fluorescence in situ hybridization(FISH)and copy number variation sequencing(CNV-seq)on 884 amniotic fluid samples with non-invasive prenatal screening(NIPS)sex chromosomal abnormalities,and to investigate the roles of different methods in prenatal diagnosis.Methods A total of 884 patients who received NIPS in the first trimester of pregnancy and indicated that the fetus was with sex chromosomal abnormality were enrolled from Tianjin Central Hospital of Gynecology and Obstetrics from January 2015 to December 2022.Amniotic fluid samples were collected in the second trimester of pregnancy,and karyotype analysis and FISH were performed.CNV-seq was further performed on the samples with inconsistent results or culture failure.Results In the 884 cases,341 cases(38.6％)of abnormal karyotype were determined,amniotic fluid cell culture failed in 11 cases(1.2％),and the positive predictive value was 39.2％(341/873).Among the 341 fetuses with abnormal karyotype analysis,the most common abnormal type was 47,XXY(108 cases),followed by 47,XXX(80 cases)and 47,XYY(68 cases).Totally,18 cases were 45,X.Totally,51 cases were determined as chimera.The results of FISH in 862 cases(862/884)were consistent with those of karyotype analysis or CNV-seq,and the positive predictive value of FISH was 97.5％.A total of 24 cases were different from karyotype analysis,and CNV-seq was performed further.In the 22 cases,the results of CNV-seq were consistent with those of karyotype analysis,which could complement each other.The karyotype of 1 of the 2 inconsistent samples was 46,+mar,and the results of FISH and CNV-seq were 45,X.The karyotype analysis of 1 case showed that the heterochromatin region of chimeric Y chromosome was missing,the results of FISH and CNV-seq were chimeric,and the structure was not abnormal.Conclusions Combined determination of FISH and karyotype analysis is recommended when NIPS indicates chromosomal abnormalities,which can quickly and accurately diagnose chromosomal abnormalities.For suspected special structural abnormalities of chromosomes,FISH,karyotype analysis and CNV-seq combined determination is recommended to identify the genetic cause.
关键词
无创产前筛查/染色体核型分析/荧光原位杂交技术/拷贝数变异测序/性染色体异常/产前诊断
Key words
Non-invasive prenatal screening/Chromosome karyotype analysis/Fluorescence in situ hybridization/Copy number variation sequencing/Sex chromosomal abnormality/Prenatal diagnosis
维普
万方数据