染色体核型分析联合染色体微阵列分析技术在产前诊断中的应用价值  

Application value of chromosome karyotyping combined with chromosome microarray analysis technology in prenatal diagnosis

作　　者：谭满胜 李祝坤 唐玉芬[1] 黎洛冰 聂俊玮[1] 谢清丰 TAN Mansheng;LI Zhukun;TANG Yufen;LI Luobing;NIE Junwei;XIE Qingfeng(Department of Genetics and Eugenics,Maoming Maternal and Child Health Hospital,Maoming,Guangdong 525000,China;Department of Prenatal Diagnosis,Maoming Maternal and Child Health Hospital,Maoming,Guangdong 525000,China)

机构地区：[1]广东省茂名市妇幼保健院遗传优生优育科,广东茂名525000 [2]广东省茂名市妇幼保健院产前诊断中心,广东茂名525000

出　　处：《检验医学与临床》2022年第15期2108-2111,共4页Laboratory Medicine and Clinic

摘　　要：目的评估染色体核型分析联合染色体微阵列分析(CMA)技术应用于产前诊断的临床价值。方法回顾性分析2019年1月至2021年6月在该院接受羊水染色体核型分析及CMA技术检测的224例孕妇资料,对两种方法获得的检测结果进行比较和分析。结果染色体核型分析检测成功223例,成功率为99.55%,CMA技术检测全部成功,成功率为100.00%。两种检测方法共检出染色体异常31例,其中18例两种检测方法检测结果一致,包括21-三体综合征7例,18-三体综合征3例,性染色体数目异常5例,染色体缺失2例,染色体重复1例;有4例两种检测方法检测结果不一致;此外,染色体核型分析漏检6例,分别为染色体微缺失4例及染色体微重复2例,CMA技术检测漏检3例,分别为染色体易位2例及性染色体嵌合1例。结论用染色体核型分析联合CMA技术进行产前诊断,可提高染色体异常检出率,有助于在产前遗传咨询中对胎儿是否健康作出较为准确的诊断,为孕妇是否继续妊娠提供更加客观的依据。Objective To evaluate the clinical value of chromosome karyotyping combined with chromosome microarray analysis(CMA)technology in prenatal diagnosis.Methods The data of totally 224 pregnant women who received chromosome karyotyping analysis of amniotic fluid and CMA technology from January 2019 to June 2021 in the hospital were retrospectively analyzed.The test results obtained by the two methods were compared and analyzed.Results Totally 223 cases were successfully detected by chromosome karyotyping analysis,and the success rate was 99.55%.All cases were successfully detected by CMA technique,and the success rate was 100.00%.A total of 31 cases of chromosome abnormalities were detected,the results of the two methods were consistent in 18 cases,including 7 cases of trisomy 21,3 cases of trisomy 18,5 cases of sex chromosome aneuploidies,2 cases of chromosome deletions,and 1 case of chromosome duplication.The results of the two methods were inconsistent in 4 cases.In addition,6 fetuses with chromosomal abnormalities detected by CMA were missing by karyotyping analysis including 4 cases of chromosome microdeletions and 2 cases of chromosome microduplications.3 fetuses with chromosomal abnormalities detected by karyotyping analysis were missing by CMA,including 2 cases of chromosome translocations and 1 case of sex chromosome mosaicism.Conclusion Chromosome karyotyping analysis combined with CMA technology for prenatal diagnosis could improve the detection rate of chromosome abnormalities,help to make a more accurate diagnosis of fetal health in prenatal genetic counseling,and provide a more objective basis for pregnant women to continue pregnancy.

关 键 词：染色体核型分析 染色体微阵列分析技术 产前诊断 联合检测 应用价值 

分 类 号：R715.5[医药卫生—妇产科学]