孕妇血浆游离胎儿DNA检测在无创产前诊断中的应用价值研究

Value of free fetal DNA in maternal plasma on non-invasive prenatal diagnosis

目的探讨孕妇血浆游离胎儿DNA检测在无创产前诊断中的价值。方法 2011年1月至2013年12月该院46例孕妇作为研究对象,通过柱分离法获得孕妇的血浆DNA,并通过聚合酶链反应(PCR)技术对孕妇外周血浆中游离胎儿DNA的性别决定基因(SRY)进行检测,并通过ATL1基因鉴别胎儿的性别。结果 46例孕妇中28例产男性婴儿,18例产女性婴儿,其中男性胎儿中的26例能通过PCR技术扩增出SRY基因,而女性胎儿中有17例经过PCR技术扩增出ATL1基因,其特异度为94.4%(17/18),而灵敏度为92.9%(26/28),检测的总符合率为93.5%(43/46)。结论将孕妇血浆游离胎儿DNA检测应用到产前检查检测中,其灵敏度和特异度都较高,且检查过程中无创伤,能减少不良事件的发生概率,值得临床推广和应用。

Objective To explore the value of free fetal DNA in maternal plasma on non‐invasive prenatal .Methods A total of 46 pregnancy women were recruited in this study from January 2011 to December 2013 .Column separation method was used to got plasma DNA ,SRY gene was detected by polymerase chain reaction （PCR）technology and ATL1 specific sequence were used to judge the genders of fetuses .Results In 46 cases of pregnant women ,there was 28 cases with male fetuses ,18 cases with female fe‐tuses ,26 male fetuses was amplified with SRY gene by PCR method ,while there was 17 female fetuses was amplified with ATL1 gene .The specificity and sensitivity were 94 .4% （17/18） and 92 .9% （26/28） respectively ,the overall accuracy was 93 .5% （43/46） .Conclusion The sensitivity and specificity of free fetal DNA detection are higher in antenatal examination ,and there is no wound for pregnant women ,could reduce occurrence of adverse events .