Abstract
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).
Highlights
Fetal growth restriction (FGR) is one of the most formidable challenges in antenatal care
One of the well-characterized diseases associated with FGR is Silver–Russel syndrome, which has multiple etiologies, but epigenetic changes in chromosome 11p15.5 and maternal UPD7 are the main causes of the syndrome [34,35]
Another study suggested that the maternal -308G > A tumor necrosis factor α (TNF-α) gene variant may play a role in the development of FGR
Summary
Fetal growth restriction (FGR) is one of the most formidable challenges in antenatal care. Recent development of diagnostic techniques allowed better analysis of genetic reasons for FGR, including chromosomal, submicroscopic and single gene disorders [8] It is not a universal rule, genetic anomalies are more prevalent in severe cases and early gestational ages [8]. Peng et al showed an inverse relationship between the gestational age at FGR diagnosis and the detection rate of chromosomal aberrations It was 7% in the early-onset group and 1.8% in the late-onset group. When early-onset fetal growth restriction results from chromosomal abnormalities or is accompanied by fetal structural malformations, it may be associated with poor pregnancy outcomes. An elevated risk of adverse pregnancy outcomes, even in patients with early-onset fetal growth restriction without fetal or genetic anomalies [23]. One of the well-characterized diseases associated with FGR is Silver–Russel syndrome, which has multiple etiologies, but epigenetic changes in chromosome 11p15.5 and maternal UPD7 are the main causes of the syndrome [34,35]
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