孕妇血浆中游离胎儿DNA在产前诊断中的初步应用  

Primary application of free fetal DNA from maternal plasma in prenatal diagnosis

作　　者：朱燕[1] 徐克前[1] 王晓春[1] 

机构地区：[1]中南大学湘雅医学院检验系,湖南长沙410013

出　　处：《检验医学》2012年第3期159-162,共4页Laboratory Medicine

摘　　要：目的探讨孕妇血浆中游离胎儿DNA在非创伤性产前诊断中的可行性。方法用柱分离法提取46例孕妇血浆中胎儿DNA,用巢式聚合酶链反应(PCR)技术扩增其胎儿SRY基因,并引入内参照基因ATL1特异序列。结果 28例孕男胎的孕妇血浆中有26例经巢式PCR扩增出SRY基因,18例孕女胎的孕妇血浆中有17例经巢式PCR只扩增出ATL1基因。灵敏度和特异度分别为92.9%(26/28)和94.4%(17/18),总符合率为93.5%(43/46)。结论应用孕妇血浆中胎儿DNA作产前诊断灵敏度和特异度较高,是一种非创伤性产前诊断方法,具有广泛的临床应用前景。Objective To investigate the feasibility of free fetal DNA from maternal plasma in non-invasive prenatal diagnosis.Methods Free fetal DNA was extracted by column seperation from 46 maternal plasma,and nested polymerase chain reaction（PCR） was used to amplify the SRY gene,and ATL1 gene specific sequence was amplified as an internal control.Results The SRY gene sequence was detected in 26 maternal plasmas from 28 pregnant women with male fetus.In 17 maternal plasmas from 18 pregnant women with female fetus,only the ATL1 gene sequence was detected.The sensitivity was 92.9%（26/28）,the specificity was 94.4%（17/18）,and the coincidence rate was 93.5%（43/46）.Conclusions Free fetal DNA from maternal plasma analysis is a non-invasive prenatal diagnosis and has the advantages of sensitivity and specificity,and it can improve in the clinical application.

关 键 词：胎儿DNA 巢式聚合酶链反应 产前诊断 

分 类 号：R446.11[医药卫生—诊断学]