100例非整倍体无创产前基因检测的研究  

A study on 100 cases of noninvasive prenatal genetic testing for fetal aneuploidy

作　　者：邓璐莎[1] 郭晓玲[1] 钟进[1] 陈建仪[1] 

机构地区：[1]广东省佛山市妇幼保健院,528000

出　　处：《中国优生与遗传杂志》2013年第5期14-15,共2页Chinese Journal of Birth Health & Heredity

摘　　要：目的探讨非整倍体无创产前基因检测在产前筛查及产前诊断中的应用价值。方法选择2011年6月至2012年6月在我院因唐氏征筛查高风险进行产前诊断的单胎孕妇100例,术前同时抽取孕妇外周血进行非整倍体无创产前基因检测作为对比。结果在100例孕妇中有89例非整倍体无创产前基因检测为低风险,产前诊断结果胎儿染色体常规G显带分析为正常,有11例非整倍体无创产前基因检测为高风险,其中8例胎儿染色体结果确诊为唐氏综合征,3例胎儿染色体常规G显带分析为正常。其灵敏度为100%,特异度为96.74%,阳性预测值为72.73%,阴性预测值100%,正确率为97%,Youden指数为0.9674。结论非整倍体无创产前基因检测具有灵敏度、特异度、阴性预测值及正确率高等特点,安全可靠,值得在临床上推广应用。Objective： To investigate the value of noninvasive prenatal genetic testing for fetal aneuploidy applied in prenatal screening and diagnosis. Methods： 100 cases of singleton pregnancies of which fetuses were at high risk of Down＇s syndrome were re- ferred to our hospital for prenatal screening by chromosome testing between June 2011 and June 2012. Results were compared to those obtained from noninvasive prenatal genetic testing for fetal aneuploidy testing the preoperative maternal peripheral blood. Results： In 100 cases of pregnant women in 89 cases with aneuploidy noninvasive prenatal genetic testing for low risk, outcome of prenatally diag- nosed fetal chromosomes conventional G as normal, Eighty - nine cases of pregnant women with the result of low risk by noninvasive prenatal genetic testing showed normal fetal chromosomes conventional G - banding. Eight out of 11 cases with the result of high risk by noninvasive prenatal genetic testing were diagnosed with Down＇s syndrome according to fetal chromosomal findings, the rest three cases showed normal fetal chromosomes conventional G - banding. Regarding the noninvasive prenatal genetic testing for fetal aneuploidy that was compared with the golden standard, the sensitivity rate was 100%, the specificity rate was 96. 74%, the positive predict value was 72. 73%, the negative predict value was 100%, the correct rate was 97% , Youden index was 0. 9674. Conclusion： Noninvasive prenatal genetic testing for fetal aneuploidy has higher rates of sensitivity, specificity, negative predictive value and accuracy rate, thus is safe, reliable, and worthy of clinical application.

关 键 词：非整倍体无创产前基因检测 产前筛查 产前诊断 唐氏综合征 

分 类 号：R714.55[医药卫生—妇产科学]