多重连接依赖探针扩增技术在染色体非整倍体快速产前诊断中的应用  

Clinical evaluation of rapid prenatal detection of aneuploid abnormalities with multiplex ligationdependent probe amplification

作　　者：罗彩群[1] 谢建生[1] 吴维青[1] 袁晖[1] 徐志勇[1] 罗福薇[1] 耿茜[1] 张华坤[1] 郝颖 刘红[1] 

机构地区：[1]深圳市妇幼保健院产前诊断中心,518048

出　　处：《中华检验医学杂志》2012年第2期160-164,共5页Chinese Journal of Laboratory Medicine

基　　金：基金项目：深圳市科技计划重点项目（医药卫生类）（201001016）

摘　　要：目的 探讨多重连接依赖探针扩增（MLPA）技术在大样本羊水染色体非整倍体快速产前诊断中的临床应用前景.方法 收集自2009年10月至2010年12月在深圳市妇幼保健院产前诊断中心进行染色体异常产前诊断的孕妇羊水标本1229份,采用MLPA技术对5种常见染色体非整倍体异常（即13、18、21、X和Y染色体非整倍体）进行快速分子诊断,同时进行G显带染色体核型分析双盲检测.然后比较两种方法的检测结果,验证MLPA技术的敏感性和特异性.结果 在1229份羊水标本中,G显带核型技术确诊5种染色体非整倍体标本38份,其中非嵌合体非整倍体标本34份,非整倍体嵌合体标本4份；MLPA技术检测非嵌合体非整倍体与G显带核型分析结果一致,MLPA技术检出2份非整倍体嵌合体,漏检2份非整倍体嵌合体.结论 MLPA技术对13、18、21、X和Y非嵌合体非整倍染色体异常的检测敏感度和特异度较好,可应用于染色体非整倍体快速产前诊断.Objective To estimate clinical application of multiplex ligation-dependent probe amplification （MLPA） for rapid prenatal detection of aneuploid abnormalities in amniotic fluid.Methods Totally 1229 amniotic fluid samples were collected from the pregnant women receving prenatal diagnosis for chromosomal abnormalities in Prenatal Diagnosis Center of Shenzhen Maternity and Child Healthcare Hospital from October 2009 to December 2010.All the samples were investigated independently with both MLPA and G-band karyotyping to detect aneuploidies of chromosomes X,Y,13,18 and 21.A comparison was followed the results acquired from two methods for evaluation of sensitivity and specificity of MLPA.Results Thirtyeight aneuploidies were detected by G-band karyotyping,in which 34 were nonmosaic aneuploidies and 4were mosaic aneuploidies.MLPA and G-band karyotyping had consistent results in detecting the nonmosaic aneuploidies of chromosomes X,Y,13,18 and 21. Among 4 mosaic aneuploidies detected by G-band karyotyping,2 were confirmed by MLPA independently.Conclusions The sensitivity and specificity of MLPA in detecting the nonmosaic aneuploidies of chromosomes X,Y,13,18 and 21 were clinically acceptable.MLPA provides an efficient,reliable method for rapid detection of aneuploidies.

关 键 词：非整倍性 产前诊断 核酸扩增技术 核型分析 

分 类 号：R714.5[医药卫生—妇产科学]