Objective To explore the prenatal genetic diagnosis strategy of pregnant women at advanced maternal age(AMA)by analyzing the genetic prenatal diagnosis results and pregnancy outcomes of pregnant women at AMA,and to provide evidence for clinical genetic counseling and eugenics.Methods The prenatal genetic diagnosis results of 2 363 pregnant women at AMA who received interventional prenatal diagnosis in Xijing Hospital,Air Force Medical University from January 2019 to December 2022 were analyzed retrospectively.Chromosomal microarray analysis(CMA)and G-banding karyotype analysis were performed in all cases simultaneously.Results In the analysis of karyotyping and CMA in the amniotic fluid of 2 363 pregnant women at AMA,197 cases(8.34％)of pathogenic chromosomal abnormalities were detected,of which 125 cases of chromosome aneuploidy were detected by karyotyping and CMA,71 cases of pathogenic copy number variations were detected by CMA,and 1 case of uniparental diploid was detected.There were 53 cases(2.24％)with likely pathogenic copy number variations and 76 cases(3.22％)with variants of unknown significance.When pregnant women at AMA combined with other high-risk factors,the risk of pathogenic chromosomal abnormalities increased significantly,and the detection rate of pathogenic chromosomal abnormalities in pregnant women at AMA combined with abnormal soft markers was 10.71％and those combined with structural abnormalities was 16.18％.Conclusion The detection rate of chromosome abnormality in fetuses of pregnant women at AMA is high,and especially when combined with other high-risk factors,the risk of chromosome abnormality is significantly increased.It is necessary to select appropriate genetic detection methods for interventional prenatal diagnosis.Simultaneous karyotyping and CMA can provide accurate information and basis for genetic counseling and prognostic evaluation of pregnant women at AMA.
关键词
高龄孕妇/产前诊断/染色体微阵列分析/拷贝数变异
Key words
pregnant women at advanced maternal age/prenatal diagnosis/chromosomal microarray analysis/copy number variations
维普
万方数据