无创DNA在产前筛查的临床应用价值  

The clinical application value of noninvasive DNA detection in prenatal screening

作　　者：苏虹[1] 孙洪丽[1] 

机构地区：[1]昆明市妇幼保健院,云南昆明650031

出　　处：《云南医药》2016年第6期604-606,共3页Medicine and Pharmacy of Yunnan

摘　　要：目的探讨无创性产前胎儿染色体非整倍体基因检测的临床应用,提高染色体疾病的检出率,降低出生缺陷。方法采用高通量基因测序技术对1 773例孕妇检测母体血浆中胎儿游离DNA,分析胎儿染色体拷贝数,对检测出阳性结果,同时行羊水穿刺进行染色体核型分析进一步综合判断。结果 1 773例采用胎儿非整倍体无创基因检测技术检出37例,检出率为2.09%,其中21-三体高风险12例,18-三体高风险4例,染色体异常高风险21例。与羊水细胞胎儿染色体核型分析结果相比,FISH假阳1例,符合率为97.30%。年龄>35岁阳性率为2.97%,随年龄增加发病风险增加(P<0.05)岁。结论胎儿染色体非整倍体无创基因检测技术具有无创、安全、准确性高的优势,在诊断胎儿染色体异常疾病中具有广泛临床应用价值。Objective To investigate the clinical appllication of the noninvasive chromosomal aneuploid gene detection in termes of prenatal fetus, which was aimed at improving the detection rate of chromosome disease in order to reduce birth defects. Methods Using high throughput gene sequencing technology to detecte free fetal DNA in maternal plasma among 1773 cases of pregnant women, analysising chromosomal DNA copy number of fetus while estimating chromosome karyotype during amniocentesis with positive results. Results 37 of 1773 cases were detected out by using noninvasive gene detection technique of fetal chromosomal aneuploidy （2.09%）, 12 cases with high risk of Down syndrome, 4 cases with high risk of Trisomy 18 syndrome, 21 cases with high risk of chromosome dysgenesis. Compared with the result of karyotype stemming from amniotie fluid cell from fetus, 1 was false positive for FISH test （coincidence rate was 97.30%）, positive rate for who were over 35 years old was 2.97%, the onset risk was rising with the increse of age（P〈0.05）. Conclusion The detection of fetal chromosomal aneuploidy is noninvasive, safe and of high accuracy, which has a wide range of clinical application value for diagnosis of fetal chromosomal abnormalities.

关 键 词：胎儿染色体非整倍体基因检测 产前诊断 临床应用 

分 类 号：R715[医药卫生—妇产科学]