Applications of Cell-Free Fetal DNA in Maternal Serum

Cell-free fetal DNA (cffDNA) is available in the maternal circulation throughout pregnancy and can be used for noninvasive prenatal diagnosis including, determination of fetal sex, identification of specific single gene disorders, typing of fetal blood groups (RhD), paternity determination and potentially routine use for Down’s syndrome (DS) testing of all pregnancies. I searched published literature on the PubMed and databases on Scopus interface systematically using keyword’s cffDNA, noninvasive diagnosis, fetal DNA in the maternal serum. Reference lists from the papers were also searched. cffDNA representing only 3% of the total cell-free circulating DNA in early and rising to 12% in late pregnancy, clinical investigations has already demonstrated the potential advantage, such as improving safety, earlier diagnosis and comparative ease of testing using cffDNA technology. The discovery of cffDNA circulating in the maternal serum has opened the door to noninvasive prenatal diagnosis testing with novel clinical implications.