国际遗传学杂志
國際遺傳學雜誌
국제유전학잡지
INTERNATIONAL JOURNAL OF GENETICS
2015年
1期
18-23
,共6页
钟进%杨兴坤%郭晓玲%史淑琼%伍秋艳%吴水娟%陈志华
鐘進%楊興坤%郭曉玲%史淑瓊%伍鞦豔%吳水娟%陳誌華
종진%양흥곤%곽효령%사숙경%오추염%오수연%진지화
无创性产前诊断%非整倍体%母体血浆%游离胎儿DNA
無創性產前診斷%非整倍體%母體血漿%遊離胎兒DNA
무창성산전진단%비정배체%모체혈장%유리태인DNA
Noninvasive prenatal diagnosis%Aneuploidy%Maternal serum%Free fetal DNA
目的 探讨应用高通量测序技术对孕妇血浆胎儿游离DNA进行无创性胎儿染色体非整倍性检测的可行性和准确性.方法 采用高通量基因测序技术检测母体血浆胎儿游离DNA,分析胎儿染色体的非整倍性信息.同时行羊水常规染色体核型分析.统计分析两种方法检测结果的一致性.结果 100名孕妇中,母体血浆游离DNA平行测序技术检测出8例胎儿染色体非整倍性高风险.采集的100份羊水标本均培养成功,成功率为100％.共检测出7例胎儿染色体核型异常,其中染色体非整倍体异常6例(3例47,XN,+21;1例47,XN,+18;1例47,XN,+13;1例47,XXY;1例47,XXX);嵌合体1例(46,XN[2]/47,XN,+13[33]/47,XN,+13,add(15) (p12) [15]).无创基因检测与羊水染色体核型分析两种方法的κ=0.928(P ＜0.05),检测结果具有一致性.无创基因检测技术的假阳性率1.01％,灵敏度100％,特异度98.9％,阳性预测值87.5％.结论 应用高通量测序技术在染色体非整倍性无创性检测具有很高的灵敏性,假阳性率很低,在胎儿染色体非整倍性疾病的产前检测中具有广泛的应用前景.
目的 探討應用高通量測序技術對孕婦血漿胎兒遊離DNA進行無創性胎兒染色體非整倍性檢測的可行性和準確性.方法 採用高通量基因測序技術檢測母體血漿胎兒遊離DNA,分析胎兒染色體的非整倍性信息.同時行羊水常規染色體覈型分析.統計分析兩種方法檢測結果的一緻性.結果 100名孕婦中,母體血漿遊離DNA平行測序技術檢測齣8例胎兒染色體非整倍性高風險.採集的100份羊水標本均培養成功,成功率為100％.共檢測齣7例胎兒染色體覈型異常,其中染色體非整倍體異常6例(3例47,XN,+21;1例47,XN,+18;1例47,XN,+13;1例47,XXY;1例47,XXX);嵌閤體1例(46,XN[2]/47,XN,+13[33]/47,XN,+13,add(15) (p12) [15]).無創基因檢測與羊水染色體覈型分析兩種方法的κ=0.928(P ＜0.05),檢測結果具有一緻性.無創基因檢測技術的假暘性率1.01％,靈敏度100％,特異度98.9％,暘性預測值87.5％.結論 應用高通量測序技術在染色體非整倍性無創性檢測具有很高的靈敏性,假暘性率很低,在胎兒染色體非整倍性疾病的產前檢測中具有廣汎的應用前景.
목적 탐토응용고통량측서기술대잉부혈장태인유리DNA진행무창성태인염색체비정배성검측적가행성화준학성.방법 채용고통량기인측서기술검측모체혈장태인유리DNA,분석태인염색체적비정배성신식.동시행양수상규염색체핵형분석.통계분석량충방법검측결과적일치성.결과 100명잉부중,모체혈장유리DNA평행측서기술검측출8례태인염색체비정배성고풍험.채집적100빈양수표본균배양성공,성공솔위100％.공검측출7례태인염색체핵형이상,기중염색체비정배체이상6례(3례47,XN,+21;1례47,XN,+18;1례47,XN,+13;1례47,XXY;1례47,XXX);감합체1례(46,XN[2]/47,XN,+13[33]/47,XN,+13,add(15) (p12) [15]).무창기인검측여양수염색체핵형분석량충방법적κ=0.928(P ＜0.05),검측결과구유일치성.무창기인검측기술적가양성솔1.01％,령민도100％,특이도98.9％,양성예측치87.5％.결론 응용고통량측서기술재염색체비정배성무창성검측구유흔고적령민성,가양성솔흔저,재태인염색체비정배성질병적산전검측중구유엄범적응용전경.
Objective To determine the feasibility and accuracy of detecting the chromosomal aneuploidy of free fetal DNA in maternal plasma by high-throughput sequencing.Methods High-throughput sequencing was applied to analyze the sequence copy numbers of fetal chromosome.Fetal karyotyping was also carried out for the amniocentesis samples.Consistency between the two methods was analyzed statistically.Results Eight cases were detected to be high risk of chromosomal aneuploidy by high-throughput sequencing,among which 6 cases were confirmed by karyotyping (3 cases of 47,XN,+ 21,1 case of 47,XN,+18,1 case of 47,XN,+ 13,1 case of 47,XXY,1 case of 47,XXX),1 case was confirmed to be mosaic (46,XN[2]/47,XN,+ 13[33]/47,XN,+ 13,add(15) (P12) [15]).The amniotic fluid cells from the 100 cases were cultured successfully (success rate was 100％).There was consistency between two methods (κ =0.928).The sensibility is 100％ and the false positive rate is 1.1％ ; The specificity is 98.9％ and the positive predictive value is 87.5％.Conclusion High-throughput sequencing is an efficient ways to detectfetal chromosomal aneuploidy.Therefore it has a broad application in prenatal diagnosis.
