羊水细胞染色体核型分析联合基因组拷贝数变异测序技术在产前诊断中的应用  

Application karyotype analysis and genome copy number variation sequencing of amniotic fulid cell in prenatal diagnosis

作　　者：张素华[1] 徐月新[1] 傅丹[1] ZHANG Suhua;XU Yuexin;FU Dan(Department of Prenatal Diagnosis,Subei People′s Hospital of Jiangsu Province,Yangzhou,Jiangsu 225001,China)

机构地区：[1]江苏省苏北人民医院产前诊断中心,江苏扬州225001

出　　处：《国际检验医学杂志》2021年第10期1166-1170,1175,共6页International Journal of Laboratory Medicine

基　　金：江苏省妇幼健康科研项目(F201944)。

摘　　要：目的探讨羊水细胞染色体核型分析和基因组拷贝数变异测序(CNV-Seq)技术在产前诊断中联合应用的潜力。方法316例孕妇根据产前诊断指征进行羊水穿刺,同时进行羊水细胞染色体核型分析及CNV-Seq检测。结果两种方法联合检测共发现49例异常,占受检总人数的15.51%;其中两种方法同时发现异常16例,染色体核型分析结果异常而CNV-Seq未检出异常的有8例(主要是平衡易位);CNV-Seq检测结果异常而染色体核型分析结果正常25例。结论染色体核型分析和CNV-Seq检测在产前诊断中各有优缺点,二者结合可以更科学、合理地指导妊娠,避免先天缺陷儿的出生。Objective To explore the potential of combined application of amniotic fluid cell karyotype analysis and genome copy number variation sequencing(CNV-Seq)in prenatal diagnosis.Methods A total of 316 pregnant women were offered amniocentesis according to the puncture indications.The amniotic fluid was routinely punctured,amniotic fluid was collected and used for karyotype analysis and CNV-Seq.Results A total of 49 abnormal cases were detected with abnormal results by the two methods,accounting for 15.51%of the total number of people examined.Among them,16 cases were found to be abnormal by both methods,there were 8 cases(mainly balanced translocation)with abnormal karyotype results but not detected by CNV-Seq,there were 25 cases with abnormal CNV-Seq results and normal karyotype results.Conclusion Karyotype analysis and CNV-Seq have their own advantages and disadvantages in prenatal diagnosis.The combination of the two methods could guide pregnancy more scientifically and reasonably,which prevent the birth defects.

关 键 词：染色体核型分析 下一代测序 拷贝数变异 产前诊断 遗传咨询 

分 类 号：R446.9[医药卫生—诊断学]