孕妇血浆中游离胎儿DNA在产前诊断中的应用

Application of Cell-free Fetal DNA in Maternal Plasma for Non-invasive Prenatal Diagnosis

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例孕妇血浆中的DNA,用巢式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 study the feasibility of cell- free fetal DNA in maternal plasma for non - invasive prenatal diagnosis. Methods Cell free fetal DNA was extracted by column separation from plasma of 46 pregnant women, nested polymerase chain reaction was employed to amplify the fetal SRY gene, and ATLI gene specific sequence was served as an internal reference. Results The fetal SRY gene was obtained in 26/28 pregnant women whose fetuses were males, and the ATLI gene was obtained in 17/18 pregnant women whose fetuses were females. The test sensitivity and specificity was 92.9 % （26/28） and 94.4 % （ l 7/18） respectively and the total corresponding rate was 93.5 % （43/46）. Conclusions Cellfree fetal DNA in maternal plasma analysis is a non- invasive prenatal diagnosis procedure and possesses the advantages of sensitivity and specificity. It is valid in clinical application.