Circulation Transcriptome of Maternal Plasma and Its Use in Noninvasive Prenatal Screening

The circulation transcriptome of maternal plasma is an emerging area of interest in noninvasive prenatal screening (NIPS). Although cell-free DNA based tests are used for more than a decade to detect prenatal genetic conditions, the focus of research is shifting towards maternal plasma RNA sequencing and its clinical application to monitor pregnancy associated conditions and fetal health. By analyzing cell-free RNA molecules present in maternal blood, researchers can gain valuable insights into fetal development and genetic health. The use of the circulation transcriptome in NIPS holds promise for early detection and diagnosis of genetic abnormalities, including chromosomal aneuploidies as well as microdeletions and microduplications. This chapter discusses various aspects of fetal transcriptome of maternal circulation in screening of fetal and maternal complications.