胎儿染色体非整倍体无创基因检测在产前诊断的临床应用研究  

The clinical application value of non-invasive gene detection of aneuploidy in fetal as prenatal diagnosis

作　　者：曹婧[1] 乔福元[1] 杨昀 石鑫玮[1] 李宇琪[1] 柳宛璐[1] 张娜[1] 陈平[1] 唐桂菊[1] 唐红菊[1] 丁建林[1] 徐鹏[1] 吴媛媛[1] 

机构地区：[1]湖北省武汉市华中科技大学同济医学院附属同济医院妇产科,430030 [2]湖北省武汉华大基因科技有限公司,4300030

出　　处：《中国优生与遗传杂志》2013年第4期53-54,共2页Chinese Journal of Birth Health & Heredity

摘　　要：目的探讨胎儿染色体非整倍体无创基因检测技术在产前诊断中的临床应用及价值。方法选择孕中期血清筛查唐氏综合征高风险的单胎孕妇志愿者103例。采集孕妇血样,进行胎儿染色体非整倍体无创基因检测;同时抽取孕妇羊水行羊水细胞胎儿染色体数目检测的荧光原位杂交分析。结果 103例样本中,采用胎儿非整倍体无创基因检测技术检出21-三体综合征阳性病例2例,阴性病例101例。与羊水细胞胎儿染色体数目检测的荧光原位杂交技术(fluorescent insitu hybridization,以下简称FISH)结果相比,21-三体综合征检出率为100%,21-三体综合征假阴性率0%,21-三体综合征假阳性率0%,阳性病例与FISH结果相符。结论:胎儿染色体非整倍体无创基因检测技术的灵敏度及特异性较高,是一项无创性早期产前诊断的新技术。Objective ： To investigate the clinical application value of non - invasive gene detection of aneuploidy in fetal as non - invasive prenatal diagnosis. Method： 103 pregnant women were recruited with single fetus at high risk for trisomy 21 during second tri- mester. Peripheral venous blood samples （5 - 10 mL） were collected and were tested by the methods for non -invasive gene detection of aneuploidy in fetal. Meanwhile, all the pregnant women were taken amniotic fluid for FISH. Results： 103 samples were detected by non - invasive gene detection of aneuploidy in fetal, and 2 were found with trisomy, others were not with trisomy. Compared with fluo- rescent in situ hybridization （ FISH）, the positive predictive value wasl00%, the false negative rate for trisomy was 0% and the false - positive rate was 0%. And the resuhs for positive cases were coincided with the results from FISH. Conclusion ： as it has a high sensitivity and specificity, non -invasive gene detection of aneuploidy in fetal can become a new technology for the early non -invasive prenatal diagnosis Koy words： Aneuploidy in fetal; Non- invasive gene detection; FISH

关 键 词：胎儿染色体非整倍体 无创基因检测 FISH 

分 类 号：R714.55[医药卫生—妇产科学]