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目的:探讨高通量基因测序技术在无创产前诊断中的价值。方法:回顾性分析进行胎儿游离DNA高通量基因测序技术的1064例孕妇,对其中495例唐氏筛查高危者进行研究,比较无创DNA检测和核型分析的结果。结果:495例唐氏筛查高危者高通量基因测序技术显示染色体异常者12例,核型分析10例异常,7例21-三体阳性,3例18-三体阳性。高通量基因测序技术诊断胎儿染色体异常的敏感度为100.00%(10/10),特异性为97.58%(483/495),假阴性率为0.00%(0/495),假阳性率为0.40%(2/495)。结论:高通量测序技术诊断胎儿染色体非整倍体异常具有高效、准确、无创、简单、易行的优点。
Objective: To explore the value of high-throughput gene sequencing in noninvasive prenatal diagnosis. Methods: A total of 1064 pregnant women who underwent fetal DNA high-throughput sequencing were retrospectively analyzed. Among them, 495 high risk screening Down’s were studied. The results of noninvasive DNA detection and karyotype analysis were compared. Results: High-throughput sequencing of 495 high-risk patients with Down’s syndrome revealed 12 cases of chromosomal abnormalities, 10 cases of karyotype analysis, 7 cases of 21-trisomy and 3 cases of 18-trisomy. The sensitivity of high-throughput sequencing was 100.00% (10/10), the specificity was 97.58% (483/495), the false negative rate was 0.00% (0/495) and the false positive rate was 0.40 % (2/495). CONCLUSION: High-throughput sequencing is an efficient, accurate, noninvasive, simple and easy to diagnose fetal aneuploidy abnormality.