Alberry M S, Soothill P W
Department of Fetal Medicine, University of Bristol, Bristol, UK.
Semin Fetal Neonatal Med. 2008 Apr;13(2):84-90. doi: 10.1016/j.siny.2007.12.006. Epub 2008 Jan 30.
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.
在过去二三十年里，人们付出了巨大努力来开发非侵入性产前诊断技术，以避免侵入性操作给胎儿带来的风险。多年来，无需侵入性操作就能获取用于分子分析的胎儿核酸一直是产前诊断的目标；如今，通过利用母体血液中循环的无细胞胎儿核酸，这一目标已成为可能。胎盘是这些核酸的主要来源，这增加了它们可能成为由胎盘疾病/功能障碍（如子痫前期和胎儿生长受限）导致的妊娠并发症标志物的可能性。如果是这样，这些标志物或许能够识别有风险的病例，预测疾病及其严重程度，或实现早期诊断。这有可能改善复杂妊娠的管理。
