唐氏筛查临界风险和高风险孕妇的胎儿染色体核型分析与微阵列检测研究  

Analysis of chromosome microarray chip and karyotype analysis in critical or high-riskpregnant women by Down’s screening

作　　者：李熹翀 巫玉婷 林铿[1] 孟祥荣 刘建珍[1] 鞠爱萍[1] Li Xichong;Wu Yuting;Lin Ken;Meng Xiangrong;Liu Jianzhen;Ju Aiping(Maternity and Child Health Hospital of Huadu District,Guangzhou,Guangdong 510800,China)

机构地区：[1]广州市花都区妇幼保健院检验科,广东广州510800

出　　处：《中国产前诊断杂志(电子版)》2025年第1期24-30,共7页Chinese Journal of Prenatal Diagnosis(Electronic Version)

基　　金：广州市花都区医疗卫生一般科研专项项目(24-HDWS-074)。

摘　　要：目的探讨唐氏综合征产前筛查(简称唐氏筛查)临界或高风险孕妇胎儿核型分析及染色体微阵列(CMA)的检出情况,为此类孕妇的产前诊断提供参考。方法收集2020年1月至2024年5月广州市花都区妇幼保健院2971例产前诊断标本,其中包括601例唐氏筛查临界风险或高风险孕妇羊水或绒毛样本,进行染色体核型分析和染色体微阵列分析,对各组核型分析和CMA结果进行分析。结果601例孕妇中,染色体数目及结构异常检出率为4.16%(25/601),CMA致病性及可疑致病性拷贝数变异检出率为6.99%(42/601),CMA联合核型分析异常检出率为7.99%(48/601),其中13/18/21-三体综合征检出率为1.83%(11/601)与全部产前诊断样本组2.46%(73/2971)的差异不具有统计学意义(χ^(2)=0.855,P>0.05),非13/18/21-三体综合征染色体异常率为6.16%(37/601)与全部产前诊断样本组4.24%(126/2971)的差异具有统计学意义(χ^(2)=4.211,P<0.05)。唐氏筛查临界风险组和高风险组染色体异常检出率分别为9.68%(3/31)和7.89%(45/570),差异不具有统计学意义(χ^(2)=0.127,P>0.05)。孤立性唐氏筛查阳性组的核型分析联合CMA总异常检出率6.62%(29/438)与唐氏筛查阳性合并其他两项及以上产前指征组的核型分析联合CMA总异常检出率10.07%(15/149)存在显著差异(P<0.05)。结论唐氏筛查临界风险或高风险不仅能提示13/18/21-三体综合征,而且对非13/18/21-三体的染色体异常也有一定的提示作用,核型分析联合CMA技术能显著提高唐氏筛查临界或高风险孕妇胎儿的染色体异常检出率。Objective To investigate the karyotype analysis and the detection of chromosome microarray(CMA)of fetus in critical or high-risk pregnant women for prenatal screening of Down syndrome(hereinafter referred to as Down's screening),and to provide reference for prenatal diagnosis of such pregnant women.Methods From January 2020 to May 2024,2971 prenatal diagnostic specimens were collected from Huadu District Maternal and Child Health Hospital of Guangzhou,including amniotic fluid or villus samples from 601 pregnant women with borderline risk or high risk of Down's screening,chromosome karyotype analysis and chromosome microarray analysis were performed,and karyotype analysis and CMA results of each group were analyzed.Results In 601 pregnant women,the detection rate of chromosome number and structure abnormalities was 4.16%(25/601),the detection rate of CMA pathogenic and suspected pathogenic copy number variation was 6.99%(42/601),and the abnormal detection rate of CMA combined karyotype analysis was 7.99%(48/601).The detection rate of trisomy 13/18/21-syndrome was 1.83%(11/601)compared with 2.46%(73/2971)in all prenatal samples(χ^(2)=0.855,P>0.05).The chromosomal abnormality rate of non-13/18/21-trisomy syndrome was 6.16%(37/601)compared with 4.24%(126/2971)in all prenatal samples(χ^(2)=4.211,P<0.05).The detection rates of chromosome abnormality in the critical risk group and the high risk group were 9.68%(3/31)and 7.89%(45/570),respectively,and the difference was not statistically significant(χ^(2)=0.127,P>0.05).There was significant difference between the detection rate of total abnormality of CMA combined with karyotype analysis in the isolated positive Down's screening group of 6.62%(29/438)and the detection rate of total abnormality of CMA in the positive Down's screening group of 10.07%(15/149)with other two or more prenatal indications(P<0.05).Conclusion In addition to trisomy 18/21-syndrome,the critical or high-risk of Down's screening can also be used to indicate the chromosome abnormalities of non-tris

关 键 词：唐氏筛查 染色体核型分析 染色体微阵列芯片技术 产前诊断 

分 类 号：R715.5[医药卫生—妇产科学]