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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。
Objective To investigate the feasibility of using Illumina sequencing to detect fetal aneuploidy in maternal blood and its potential application in noninvasive prenatal diagnosis. Methods Sixty-eight pregnant women with single-fetus pregnancy who had prenatal diagnosis from 12 weeks to 39 weeks of gestation were selected for centrifugation and free DNA was extracted from the plasma. DNA sequencing and statistical analysis were performed using Illumina Hiseq 2000 sequencing. Results 68 cases of pregnant women detected by Illumina sequencing three cases of 21 trisomy, 2 cases of trisomy 18, 1 case of trisomy 13 and 1 case of 47, XYY. Because the amniotic fluid exfoliated from the dying fetus had extremely low cell viability and failed to culture amniotic fluid, 1 trisomy 21 was undetectable in the conventional karyotype analysis. Conclusion As a noninvasive prenatal diagnosis technique, Illumina sequencing can accurately screen 21, 18, 13, X and Y aneuploidy abnormalities with the advantages of safety, high accuracy and low false positive rate. It is worth Clinical promotion.