Fetal nucleic acids in maternal circulation for noninvasive prenatal diagnosis

Abstract

Invasive techniques of prenatal diagnosis such as amniocentesis and chorionic villus sampling (CVS) are expensive and associated with risks to the mother and the fetus. Studies show that cell-free nucleic acids circulate freely in maternal blood. Therefore, the experiments performed worldwide towards noninvasive prenatal diagnosis (NIPD) have demonstrated great economical and medical benefits compared to the currently used invasive prenatal diagnostic techniques. The important point of using cell-free nucleic acids in maternal plasma for prenatal diagnosis is quality of the recovered DNA and messenger RNA (mRNA) fragments in conjunction with presence of maternal nucleic acids. The current analysis of fetal nucleic acids in maternal plasma is done via using fetal specific DNA and mRNA markers. Using the fetal-specific markers includes epigenetic differences between the placenta and maternal blood cells that could be used as a fetal-specific marker and also fetal-specific mRNA in maternal plasma that provides another source of fetal specific biomarkers. Techniques such as bisulfite sequencing, digital polymerase chain reaction (Digital PCR) and reverse transcriptase-multiplex ligation-dependent probe amplification (RT-MLPA) are used in these cases, too. © 2016, Isfahan University of Medical Sciences(IUMS). All rights reserved.