无创产前基因检测在胎儿非整倍体筛查中的应用

发布时间：2018-03-07 02:16

本文选题：无创产前基因检测　切入点：产前筛查　出处：《中国优生与遗传杂志》2016年02期 　论文类型：期刊论文

【摘要】：目的探讨无创产前基因检测技术在胎儿染色体非整倍体筛查中的应用价值。方法选择在医院行无创产前基因检测的单胎孕妇450例,对孕妇外周血中游离DNA进行高通量测序,对检测结果高风险者进行羊膜腔穿刺或脐静脉血穿刺行胎儿染色体核型分析,对检测结果低风险者行电话随访。结果 450例孕妇中,无创产前基因检测高风险9例。高风险孕妇均行介入性产前诊断,确诊唐氏综合症5例,18三体综合症2例,性染色体异常1例(47,XXX),染色体核型正常1例。低风险孕妇追踪随访未发现唐氏儿漏诊。其灵敏度为100%,特异度为99.77%,假阳性率0.23%,阳性预测值为88.89%,阴性预测值100%,Youden指数为0.9977。结论无创产前基因检测技术具有高灵敏性,低假阳性,对降低出生缺陷率是有效的,值得在临床上推广应用。
[Abstract]:Objective to explore the application value of noninvasive prenatal gene detection technique in fetal chromosome aneuploidy screening. Methods 450 single fetal pregnant women who underwent non-invasive prenatal gene detection in hospital were selected to carry out high throughput sequencing of free DNA in maternal peripheral blood. The chromosomal karyotype of fetus was analyzed by amniocentesis or umbilical vein blood puncture in patients with high risk. Non-invasive prenatal gene detection was performed in 9 cases. Interventional prenatal diagnosis was performed in all high-risk pregnant women, and 5 cases of Down's syndrome were diagnosed as trisomy 18 syndrome, 2 cases were diagnosed as trisomy 18 syndrome. Sex chromosome abnormality was found in 1 case, chromosome karyotype was normal in 1 case. Follow-up of low risk pregnant women showed no missed diagnosis of Down's infant. Its sensitivity was 100, specificity was 99.77 and false positive rate was 0.23. The positive predictive value was 88.89 and the Youden index of negative predictive value was 0.9977. Conclusion Non-invasive prenatal gene detection technique has high sensitivity. Low false positive rate is effective in reducing birth defect rate and is worth popularizing in clinic.
【作者单位】：广东省佛山市第一人民医院产前诊断中心;
【基金】：佛山市卫生和计生局医学科研课题(孕早期无创性出生缺陷筛查与快速分子诊断染色体非整倍体技术的研究.编号2015249)
【分类号】：R714.55;R440

【相似文献】