A Non-invasive Prenatal Diagnosis Method: Free Fetal DNA in Maternal Plasma

Prenatal diagnosis for genetic diseases nowadays is still carried out by invasive procedures such as chorionic villus sampling, amniocentesis or cordocentesis. These techniques, however, accompanied with risk of fetal losses. Non-invasive prenatal diagnosis tests based on the analysis of fetal DNA in maternal plasma have potential to be a safer alternative to invasive methods. Non-invasive prenatal diagnosis has been a long-standing research theme in prenatal medicine. The discovery of cell-free fetal nucleic acids in maternal plasma in 1997 has opened new possibilities for noninvasive prenatal diagnosis. The measurement and detection of fetal DNA in maternal plasma and serum has led to clinical applications for the identification of fetal aneuploidies, pre-eclamptic pregnancies, noninvasive diagnosis of fetal Rhesus D genotype and some single gene disorders. The detection of fetal DNA sequences is a reality and could reduce the risk of invasive techniques for certain fetal disorders in the near future. [Archives Medical Review Journal 2013; 22(3.000): 317-334]