不同产前诊断指征孕妇890例胎儿异常染色体核型检出情况分析  

Analysis of abnormal chromosomal karyotypes in 890 pregnant women with different prenatal diagnosis indications

作　　者：胡惠彬 唐德国 郭忠忠 李鼎锋 张苗 杨云 Hu Huibin;Tang Deguo;Guo Zhongzhong;Li Dingfeng;Zhang Miao;Yang Yun(Department of Genetic Testing,Yongzhou Maternal and Child Health Hospital,Yongzhou 412005,China)

机构地区：[1]永州市妇幼保健院检验科,永州412005

出　　处：《实用医技杂志》2025年第4期270-274,共5页Journal of Practical Medical Techniques

摘　　要：目的利用染色体核型分析技术、基因组拷贝数变异测序技术(CNV-seq)技术对具有侵入性产前诊断指征孕妇胎儿染色体异常核型检出情况分析。方法选取2022年1月至2023年12月于我院进行产前诊断的孕妇890名,均具有侵入性产前诊断指征,包括无创DNA筛查高风险、超声异常、唐氏筛查高风险、年龄高风险、异常妊娠和不良生育史、夫妻染色体异常等,同时均进行羊水穿刺,分别进行染色体核型分析、CNV-seq技术检测,分析对胎儿染色体异常核型的检出情况。结果890名孕妇经羊水穿刺后,培养失败6例,失败率为0.67%,出具报告数884份共检出胎儿染色体异常核型106例(11.99%),异常核型中常染色体数目异常44例(41.56%),其中有21-三体32例,18-三体8例,13-三体4例;性染色体数目异常8例(7.54%);结构异常41例(38.68%);染色体平衡性结构重排6例(5.66%);非平衡性结构重排35例(33.01%);嵌合体11例(10.37%),以上各种异常存在着相互重叠。各种产前诊断指征对胎儿染色体异常核型检出率从高到低依次为无创DNA筛查高风险、唐氏筛查高风险、超声异常、年龄高风险、夫妻一方染色体异常、不良生育史,差异有统计学意义(P<0.05)。染色体核型分析检出率71.60%,CNV-seq检出率95.28%,两者联合检出率100.00%,三者检出率比较有统计学意义(P<0.05)。结论对有侵入性产前诊断指征的孕妇联合采用染色体核型分析、CNV-seq检测,可提高胎儿染色体异常核型检出率,同时在各种产前诊断指征中胎儿异常染色体检出率由高到低依次为无创DNA筛查高风险、唐氏筛查高风险、超声异常、年龄高风险、夫妻一方患染色体疾病、不良孕产史等,根据不同指征的胎儿异常染色体预测值高低,从而引起临床医师的不同程度的重视,以此为羊水穿刺提供指导。Objective Using chromosome karyotyping analysis and CNV seq techniques to analyze the detection of fetal chromosomal abnormalities in 890 pregnant women with invasive prenatal diagnostic indications in Yongzhou city.Methods A total of 890 pregnant women who underwent prenatal diagnosis at our hospital from January 2022 to December 2023 were selected.These women had various indications,including high-risk non-invasive DNA screening,ultrasound abnormalities,high-risk Down syndrome screening,advanced maternal age,abnormal pregnancies,poor reproductive history,and chromosomal abnormalities in either or both spouses.Using amniocentesis results as the gold standard for diagnosis,chromosome karyotyping analysis and CNV seq te-chnology were performed to analyze the detection of fetal chromosomal abnormalities.Results In amniocentesis of 890 pregnant women,6 cases failed to culture,with a failure rate of 0.67%,884 successful cases,success rate of 99.33%,and 106 cases(11.99%)of fetal chromosomal abnormalities were detected;Among the abnormal karyotyPes,there were 44 cases(41.51%)with abnormal numbers of autosomes,including 32 cases of trisomy 21-syndrome,8 cases of trisomy 18-syndrome,and 4 cases of trisomy 13-syndrome;8 cases(7.54%)had abnormal sex chromosome numbers;41 cases(38.68%)had structural abnormalities;6 cases(5.66%)of chromosomal balance structural rearrangement;35 cases(33.01%)of non-equilibrium structural rearrangement.There were 11 cases of chimerism(10.37%),and the various abnormalities mentioned above overlaPPed with each other.The detection rates of fetal chromosomal abnormalities using these prenatal diagnostic indicators,from high to low,are as follows:high-risk non-invasive DNA screening,high-risk prenatal screening,abnormal ultrasound,age high-risk,chromosomal abnormalities in couples,abnormal pregnancy,and adverse fertility history,with statistical difference(P<0.05).The detection rate of chromosome karyotyping analysis was 71.60%,the detection rate of CNV seq was 95.2%,and the combined detection rate

关 键 词：产前诊断 染色体畸变 拷贝数变异 序列分析 DNA 

分 类 号：R714.5[医药卫生—妇产科学]