应用QF-PCR技术研究孕妇血浆中胎儿游离DNA与染色体非整倍体妊娠的关系

Study on the relation between ffDNA in maternal plasma and fetal chromosomal eaneuploidy by using QF-PCR

目的孕21三体胎儿孕妇血浆中胎儿游离DNA水平明显高于正常孕妇,该研究旨在评价妊娠时期孕妇血浆中胎儿游离DNA作为筛查唐氏综合征指标的意义及可行性。方法应用荧光定量PCR技术(QF-PCR)检测怀孕唐氏综合征男胎孕妇和孕正常男胎孕妇血清中胎儿游离DNA的水平。15例孕唐氏综合征男胎孕妇和25例孕正常男胎孕妇及10例孕正常女胎孕妇参与该项研究。结果孕唐氏综合征孕妇血清中胎儿游离DNA水平为185.8基因当量/ml,明显高于正常组(81.9基因当量/ml),P=0.005。结论孕唐氏综合征男胎孕妇血清中胎儿游离DNA含量明显高于正常组,提示荧光定量PCR技术检测孕期母血中胎儿游离DNA水平可能成为筛查唐氏综合征的一个有效指标。

Objective：Increased levels of cell-free fetal DNA（ff-DNA） in the maternal circulation are a potential noninvasive marker for fetal Down syndrome.Method：By the use of real-time quantitative polymerase chain reaction（PCR） it has recently been shown that circulatory male fetal DNA in maternal plasma is elevated in pregnancies with trisomy 21 fetuses.Results： In this independent study we confirm and extend upon these results by showing that the levels of fetal DNA are also elevated in pregnancies with other chromosomal aneuploidies（mean=185.8 genome equivalents/ml） when compared to pregnancies with normal male fetuses（mean=81.9 genome equivalents/ml）,P=0.005.Conclusion： These data suggest that a quantitative analysis of such fetal DNA levels may serve as an additional marker for certain fetal chromosomal abnormalities,in particular for trisomy 21.