无创产前基因检测对预防胎儿染色体非整倍体的应用探讨

Noninvasive prenatal genetic testing for prevention of fetal chromosomal aneuploidy

目的统计无创产前基因检测对唐氏综合征的检测效率和探讨其对唐氏综合征的预防应用。方法收集1698例孕12-24周的单胎孕妇外周血并提取其游离DNA,利用新一代高通量测序技术进行检测并运用生物信息学分析其21-三体的概率,对检测结果为21-三体高风险孕妇进行羊水或脐带血染色体核型分析,评估该技术对21-三体检测的敏感性和特异性。结果 1698例样本,无创检出21-三体高风险样本13例,经染色体核型分析确诊11例,无创产前基因检测对21-三体检测的灵敏度100%和特异度99.9%。结论游离DNA(cff DNA)进行临床无创产前21-三体诊断在产前筛查中具有广泛的应用前景。

Objective： To evaluate the efficiency of non - invasive gene detection in prenatal screening of Down＇ s syndrome, explore the application value of non - invasive gene detection in Down＇ s syndrome. Methods： A total of 1698 maternal blood in 12-24 weeks of pregnancy were used to extract cell-free fetal DNA （cff DNA） , the cff DNA were screened and confirmed by using Illumina deep sequencing approach. The karyotype analysis was performed on the amniotic fluid or cord blood of high risk pregnant women for Down＇ s syndrome. Results： Among 1698 cases, 11 out of 13 cases with the result of high risk by non- invasive prenatal genetic testing were diagnosed with Down＇ s syndrome according to karyotype analysis. The research revealed that cff DNA analysis had a sensitivity of 100% and a specificity of 99.9% in the diagnosis of Down＇ s syndrome. Conclusion： cff DNA analysis has extensive application prospect on non-invasive prenatal diagnosis of Down＇ s syndrome.