Cell-free fetal DNA in maternal blood: new possibilities in prenatal diagnostics1)

Abstract

Abstract Cell free fetal DNA (cff-DNA) in maternal blood has given rise to the possibility of new non-invasive approaches in prenatal genetic diagnoses. In contrast to the established invasive techniques chorionic villi sampling and amniocentesis, both associated with specific risk (0.5%–1%) for procedure-related abortions, cff-DNA is simply gained by maternal venous blood sampling, without any risk for the embryo or fetus. Therefore, cff-DNA offers the possibility for riskless genetic diagnoses of ongoing pregnancies. Molecular genetic techniques are already used for the qualitative detection of specific fetal sequences, such as paternal inherited or spontaneous originated (de novo) mutations. Until recently, the introduction of digital PCR and next generation sequencing technologies has shown that a reliable quantitative detection of mutant alleles as well as of clinical relevant aneuploidies (Trisomy 13, 18 and 21) from fetal DNA in maternal blood is also possible.