Non invasive prenatal diagnosis. Fetal nucleic acid analysis in maternal blood

摘要: Current prenatal diagnosis of monogeneic and chromosomal diseases, includes invasive procedures which carry a small but significant risk. For many years, analysis fetal cells in maternal circulation has been studied, however it failed its clinical use due to the scarcity these their persistance after delivery. more than decade, presence cell-free DNA blood identified. These fragments would derive from placenta are not detected delivery, making them source material for carrying out techniques using blood. However, vast majority cell free is origin, with component contributing 3% 6% rising towards term. Available methodologies do allow separation DNA, so current applications have focused on genes present mother, such as Y chromosome sequences, or RHD gene RhD-negative women, paternal de novo mutations. Also, detection RNA offers possibility obtaining information regarding genetic expression profiles embrionic tissues, expressed only at feto-placental unit, controls could be established, regardless tissue. The article describes evidences passage nucleic acids circulation, application possible future perspectives.