摘要
目的分析高龄孕妇介入性产前诊断胎儿染色体异常结果的特征。方法回顾性选取2020年1月至2023年6月于唐山市妇幼保健院产前诊断遗传病诊断中心就诊的行羊膜腔穿刺术的638例高龄孕妇作为研究对象,按照孕妇预产年龄分为A组(35~<40岁,n=463)和B组(≥40岁,n=175),统计2组高龄孕妇羊水细胞染色体核型分析结果和全基因组拷贝数变异测序(copy number variation sequencing,CNV-seq)检测结果。统计学方法采用χ^(2)检验。结果638例高龄孕妇中,羊水细胞染色体异常核型检出率为8.3%(53/638),其中A组和B组的检出率分别为6.9%(32/463)和12.0%(21/175),B组高于A组(χ^(2)=15.241,P<0.05)。CNV-seq检测结果显示,羊水细胞染色体异常拷贝数变异(copy number variation,CNV)检出率为10.2%(65/638),其中A组和B组的检出率分别为8.9%(41/463)和13.7%(24/175),B组高于A组(χ^(2)=13.634,P<0.05)。结论在高龄孕妇中,胎儿染色体异常发生率随着孕妇年龄增长而上升,行产前诊断羊水细胞染色体核型分析及CNV-seq检测可提高胎儿染色体遗传病的检出率。
Objective To analyze the characteristics of fetal chromosome abnormal results in interventional prenatal diagnosis of elderly pregnant women.Method A total of 638 elderly pregnant women who underwent amniocentesis at the Prenatal Diagnosis Genetic Diagnosis Center,Tangshan Maternal and Child Health Hospital from January 2020 to June 2023 were retrospectively selected as the study objects.According to the expected age of the pregnant women,they were divided into group A(35-<40 years,n=463)and group B(≥40 years,n=175).The results of chromosome karyotype analysis and copy number variation sequencing(CNV-seq)detection in amnioticfluid cells of elderly pregnant women were analyzed.Statistical methods performed byχ^(2) test.Result Among the 638 elderly pregnant women,the detection rate of abnormal chromosome karyotype in amnioticfluid cells was 8.3%(53/638),and the detection rate in group A and group B was 6.9%(32/463)and 12.0%(21/175),respectively.The detection rate in group B was higher than that in group A(χ^(2)=15.241,P<0.05).CNV-seq test results showed that the detection rate of abnormal copy number variation(CNV)in amnioticfluid cells was 10.2%(65/638),and the detection rate in group A and group B was 8.9%(41/463)and 13.7%(24/175),respectively.The detection rate in group B was higher than that in group A(χ^(2)=13.634,P<0.05).Conclusion The incidence rate of fetal chromosomal abnormalities increases significantly with the age of elderly pregnant women.The chromosome karyotype analysis and CNV-seq test of amniotic fluid cells in elderly pregnant women can further improve the detection rate of chromosome abnormalities in elderly pregnant women.
作者
刘恒
郭婉茹
蒋天从
戚桂杰
Liu Heng;Guo Wanru;Jiang Tiancong;Qi Guijie(Prenatal Diagnosis Genetic Diagnosis Center,Tangshan Maternal and Child Health Hospital,Tangshan Key Laboratory of Birth Defect Screening and Diagnosis,Hebei,Tangshan 063000,China)
出处
《发育医学电子杂志》
2024年第5期337-341,349,共6页
Journal of Developmental Medicine (Electronic Version)
基金
河北省医学科学研究课题计划项目(20231749)。
关键词
高龄孕妇
产前诊断
染色体核型分析
拷贝数变异测序
Elderly pregnant women
Prenatal diagnosis
Chromosome karyotype analysis
Copy number variation sequencing
