Non-invasive prenatal diagnosis: implications for antenatal diagnosis and management of high-risk pregnancies

Abstract

There has been a huge effort in the last 2-3 decades to develop non-invasive prenatal diagnosis to avoid the risks to the fetus caused by invasive procedures. Obtaining fetal nucleic material for molecular analysis without the need of invasive procedures has been a goal of prenatal diagnosis for many years; this is now been made possible by the use of non-cellular fetal nucleic acids circulating in maternal blood. The placenta is the primary source of these nucleic acids, raising the possibility that they could be a marker for pregnancy complications resulting from placental disease/dysfunction such as pre-eclampsia and fetal growth restriction. If so, these markers might be able to identify cases at risk, predict disease and/or its severity or allow early diagnosis. This has the potential to allow improvements in the management of complicated pregnancies.