中华检验医学杂志
中華檢驗醫學雜誌
중화검험의학잡지
CHINESE JOURNAL OF LABORATORY MEDICINE
2012年
2期
160-164
,共5页
罗彩群%谢建生%吴维青%袁晖%徐志勇%罗福薇%耿茜%张华坤%郝颖%刘红
囉綵群%謝建生%吳維青%袁暉%徐誌勇%囉福薇%耿茜%張華坤%郝穎%劉紅
라채군%사건생%오유청%원휘%서지용%라복미%경천%장화곤%학영%류홍
非整倍性%产前诊断%核酸扩增技术%核型分析
非整倍性%產前診斷%覈痠擴增技術%覈型分析
비정배성%산전진단%핵산확증기술%핵형분석
Aneuploidy%Prenatal diagnosis%Nucleic acid amplification techniques%Karyotyping
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.
目的 探討多重連接依賴探針擴增(MLPA)技術在大樣本羊水染色體非整倍體快速產前診斷中的臨床應用前景.方法 收集自2009年10月至2010年12月在深圳市婦幼保健院產前診斷中心進行染色體異常產前診斷的孕婦羊水標本1229份,採用MLPA技術對5種常見染色體非整倍體異常(即13、18、21、X和Y染色體非整倍體)進行快速分子診斷,同時進行G顯帶染色體覈型分析雙盲檢測.然後比較兩種方法的檢測結果,驗證MLPA技術的敏感性和特異性.結果 在1229份羊水標本中,G顯帶覈型技術確診5種染色體非整倍體標本38份,其中非嵌閤體非整倍體標本34份,非整倍體嵌閤體標本4份；MLPA技術檢測非嵌閤體非整倍體與G顯帶覈型分析結果一緻,MLPA技術檢齣2份非整倍體嵌閤體,漏檢2份非整倍體嵌閤體.結論 MLPA技術對13、18、21、X和Y非嵌閤體非整倍染色體異常的檢測敏感度和特異度較好,可應用于染色體非整倍體快速產前診斷.
목적 탐토다중련접의뢰탐침확증(MLPA)기술재대양본양수염색체비정배체쾌속산전진단중적림상응용전경.방법 수집자2009년10월지2010년12월재심수시부유보건원산전진단중심진행염색체이상산전진단적잉부양수표본1229빈,채용MLPA기술대5충상견염색체비정배체이상(즉13、18、21、X화Y염색체비정배체)진행쾌속분자진단,동시진행G현대염색체핵형분석쌍맹검측.연후비교량충방법적검측결과,험증MLPA기술적민감성화특이성.결과 재1229빈양수표본중,G현대핵형기술학진5충염색체비정배체표본38빈,기중비감합체비정배체표본34빈,비정배체감합체표본4빈；MLPA기술검측비감합체비정배체여G현대핵형분석결과일치,MLPA기술검출2빈비정배체감합체,루검2빈비정배체감합체.결론 MLPA기술대13、18、21、X화Y비감합체비정배염색체이상적검측민감도화특이도교호,가응용우염색체비정배체쾌속산전진단.
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.
