荧光原位杂交技术在性染色体异常产前诊断中的应用  

Application of fluorescence in situ hybridization technology in sex chromosome abnormalities prenatal diagnosis

作　　者：朱重阳 许培培 李鹏云[1] 吴玥丽[1] 赵玲[1] 刘灵[1] ZHU Chongyang;XU Peipei;LI Pengyun;WU Yueli;ZHAO Ling;LIU Ling(Prenatal Diagnosis Center,the Third Affiliated Hospital,Zhengzhou University,Zhengzhou 450052)

机构地区：[1]郑州大学第三附属医院产前诊断中心,郑州450052

出　　处：《郑州大学学报（医学版）》2023年第4期577-581,共5页Journal of Zhengzhou University(Medical Sciences)

基　　金：河南省基层适宜技术资助项目(SYJS2022063);河南省医学科技攻关计划(联合共建)项目(LHGJ20190394)。

摘　　要：目的:探讨荧光原位杂交(FISH)技术在性染色体异常产前诊断中的应用。方法:回顾性分析100例因无创产前检测提示性染色体异常高风险的孕妇资料,在郑州大学第三附属医院产前诊断中心接受羊膜腔穿刺行FISH检测,同时进行染色体核型分析、全基因组低深度测序(CNV-seq)或染色体微阵列分析(CMA)检测,收集检测结果和孕妇妊娠结局,比较FISH和其他技术(染色体核型分析、CNV-seq或CMA)结果的一致性。结果:羊水FISH检出38例性染色体异常,其中22例为性染色体数目异常,与其他检测方法结果一致;16例为性染色体嵌合体,有6例FISH结果与其他检测方法结果不一致。其他检测方法检出FISH未检出的性染色体异常病例5例。FISH与其他检测方法结果一致性较好(Kappa=0.788,P<0.001)。FISH联合其他检测方法共检出性染色体异常病例43例,终止妊娠21例,分娩活产胎儿15例,分娩死胎1例,6例失访。结论:FISH技术在产前诊断中对性染色体异常的诊断有着重要的应用价值,但因技术的局限性,适合和其他的遗传学诊断技术联合应用,共同提高产前诊断检出率。Aim:To explore the application of fluorescence in situ hybridization(FISH)in sex chromosome abnormalities prenatal diagnosis.Methods:A total of 100 pregnant women with high risk according to noninvasive prenatal testing accepted FISH test,and chromosome karyotype analysis or copy number variation sequencing(CNV-seq)or chromosomal microarray analysis(CMA)test in the Prenatal Diagnosis Center of the Third Affiliated Hospital of Zhengzhou University.The test results and pregnancy outcomes were collected and compared the consistency between the FISH results and other tests(chromosome karyotype analysis or CNV-seq or CMA)results.Results:Thirty-eight were detected sex chromosome abnormalities by FISH results,among whom,22 cases were abnormal sex chromosome numbers,consistent with other detection methods,16 cases were sex chromosome chimeras,and the FISH results of 6 cases were inconsistent with other detection methods.Five cases of sex chromosome abnormalities were detected by other testing methods.The comparative consistency of FISH and other test methods was good(Kappa=0.788,P<0.001).FISH and other testing methods detected 43 cases of sex chromosomal abnormalities,among whom,21 were terminated of pregnancy,15 were live births,1 was stillbirth,and 6 were lost to follow-up.Conclusion:FISH technology has important application value in the diagnosis of sex chromosome abnormalities,but it has technical limitations,and is suitable for joint application with other genetic diagnostic technologies to improve the detection rate of prenatal diagnosis.

关 键 词：荧光原位杂交 产前诊断 性染色体异常 

分 类 号：R715.5[医药卫生—妇产科学]