Illumina测序技术在母血检测胎儿非整倍体中应用

目的研究Illumina测序技术在母血中检测胎儿非整倍体的可行性,及其在无创性产前诊断中的应用前景。方法 68例孕12-39周具有产前诊断指征的单胎妊娠孕妇抽取外周血进行离心、提取血浆中游离DNA,运用Illumina Hiseq2000测序技术进行DNA测序及统计分析。结果 68例孕妇通过Illumina测序技术检测出3例21三体,2例18三体、1例13三体及1例47,XYY。因为濒死胎儿羊水脱落细胞活力极低而致羊水培养失败,传统型染色体核型分析未检测出1例21三体。结论 Illumina测序作为一种无创性产前诊断技术,可准确地筛查21、18、13、X、Y等染色体非整倍体异常,具有安全、准确率高及假阳性率低的优点,值得临床推广。

Detecting fetal chromosomal aneuploidy by Illumina-solexa sequencing DNA in maternal plasma

Objective To study the feasibility of detecting fetal chromosomal aneuploidy and the perspective of noninvasive prenatal diagnosis by Illumina sequencing DNA in maternal plasma.Methods 68 singleton pregnant women with gestation weeks of 12-39 were recruited.Maternal plasma DNA was extracted and sequenced on Illumina/Hiseq2000 platform for subsequent statistics analysis.Results Three cases of trisomy 21,two cases of trisomy 18,one cases of trisomy 13,one cases of 47,XYY were successfully indentified by Illumina sequencing.One case of trisomy 21 wasn＇t detected in traditional karyotyping analysis because the cell of amniotic fluid had exceeding low vitality in the dying fetus.Conclusion As a kind technique of noninvasive prenatal diagnosis,Illumina sequencing Of maternal plasma DNA was effective in identifying fetal chromosomal aneuploidy such as 21,18,13,X,Y.Considering its accuracy and security,it Would be worth spreading in clinic.