Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.
Department of Obstetrics and Gynecology, Institute of Mother and Child in Warsaw, Kasprzaka 17a, 01-211 Warsaw, Poland.
Int J Mol Sci. 2021 Dec 21;23(1):36. doi: 10.3390/ijms23010036.
Fetal growth restriction (FGR) is one of the most formidable challenges in present-day antenatal care. Pathological fetal growth is a well-known factor of not only in utero demise in the third trimester, but also postnatal morbidity and unfavorable developmental outcomes, including long-term sequalae such as metabolic diseases, diabetic mellitus or hypertension. In this review, the authors present the current state of knowledge about the genetic disturbances responsible for FGR diagnosis, divided into fetal, placental and maternal causes (including preeclampsia), as well as their impact on prenatal diagnostics, with particular attention on chromosomal microarray (CMA) and noninvasive prenatal testing technique (NIPT).
胎儿生长受限(FGR)是当今产前护理中最具挑战性的问题之一。病理性胎儿生长不仅是妊娠晚期宫内死亡的已知因素,也是围产期发病率和不良发育结局的已知因素,包括代谢性疾病、糖尿病或高血压等长期后遗症。在这篇综述中,作者介绍了导致 FGR 诊断的遗传紊乱的最新知识,分为胎儿、胎盘和母体原因(包括子痫前期),以及它们对产前诊断的影响,特别关注染色体微阵列(CMA)和无创产前检测技术(NIPT)。