孕妇外周血胎儿游离DNA应用于β地中海贫血产前诊断

Cell free fetal DNA from maternal plasma for β-thalassemia prenatal diagnosis

目的建立胎儿游离DNA(cell free fetal DNA,cff-DNA)提取、检测技术,应用于β地中海贫血产前诊断。方法 26例β地中海贫血产前诊断的孕妇在穿刺取样同时抽取外周血,进行常规β地中海贫血基因诊断和cff-DNA检测。结果 26例样本中,穿刺产前诊断结果 8例正常,11例杂合子,7例双重杂合子;cff-DNA检出10例IVS-Ⅱ-654突变基因携带者,与穿刺诊断结果相符,其余15例阴性,1例实验失败。结论利用cff-DNA进行β地中海贫血产前诊断具有较高的可行性,但母源性游离DNA对结果存在影响。

Objective： To establish a useful cell free fetal DNA （cff- DNA） extracting and detecting method for β-thalassemia prenatal diagnosis. Methods： 26 pregnant women were sampled by invasive and noninvasive ways respectively, traditional genetic diagnosis and cff - DNA detecting were followed. Results ： Among 26 samples, 8 cases were identified as normal, 11 and 7 were identi- fied as heterozygous and duplex heterozygous by traditional genetic diagnosis; 10 cases were detected as IVS- II -654 mutation, 15 negatives, 1 failure in all 26 cff - DNA tests. Conclusions ： Using cff - DNA for prenatal diagnosis is an effective method, But maternal cell free -DNA is an influence fartor in the tests.