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

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 ATL1 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 ATL1 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%(17/18) respectively and the total corresponding rate was 93.5%(43/46). Conclusions Cell-free 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.