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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 investigate the detection efficiency of noninvasive prenatal genetic testing on Down Syndrome and to explore its preventive and therapeutic effect on Down Syndrome. METHODS: A total of 1698 pregnant women with twins of 12-24 weeks pregnant were collected and their free DNA was extracted. The probability of 21-trisomy was determined by a new generation of high-throughput sequencing and bioinformatics analysis. The detection results were 21 - Trisomy pregnant women with high risk of amniotic fluid or umbilical cord blood chromosome karyotype analysis to assess the technology of 21-trisomy detection sensitivity and specificity. Results Of the 1698 samples, 13 cases of 21-trisomy high-risk samples were noninvasively detected and 11 cases were confirmed by chromosome karyotype analysis. The sensitivity and specificity of noninvasive prenatal detection of 21-trisomy were 100% and 99.9% respectively. Conclusion The clinical application of cff DNA in prenatal diagnosis of 21-trisomy has a wide range of applications in prenatal screening.