Genetic syndromes associated with isolated fetal growth restriction

Abstract

Early onset fetal growth restriction (FGR) may be due to impaired placentation, environmental or toxic exposure, congenital infections or genetic abnormalities. Remarkable research, mainly based on retrospective series, has been published on the diverse genetic causes. Those have become more and more relevant with the improvement in the accuracy of the analysis techniques and the rising of breakthrough genomewide methods such as the whole genome sequencing. However, no publication has presented an integrated view of management of those fetuses with an early and severe affection. In this review, we explored to which extent genetic syndromes can cause FGR fetuses without structural defects. The most common chromosomal abnormalities (Triploidies and Trisomy 18), submicroscopic chromosomal anomalies (22q11.2 microduplication syndrome) and single gene disorders (often associated with mild ultrasound findings) related to early and severe FGR had been analysed. Finally, we addressed the impact of epigenetic marks on fetal growth, a matter of growing importance. At the end of this review, we should be able to provide an adequate counseling to parents in terms of diagnosis, prognosis and management of those pregnancies.

First Trimester Screening for Common Trisomies and Microdeletion 22q11.2 Syndrome Using Cell-Free DNA: A Prospective Clinical Study

“…Microdeletion 22q11.2 has a heterogenous clinical presentation with multi-organ dysfunction. Common postnatal phenotypic findings include growth and developmental delay, cardiac defects, cleft palate, recognizable facial features, learning disabilities, and immunodeficiency [7][8][9][10]. Overall, it is the second most common cause of developmental delay and major congenital heart disease after Down syndrome [11].…”

Neonatal and maternal outcome of small‐for‐gestational‐age neonates delivered by vacuum‐assisted delivery

“…Moreover, our results are further strengthened when considering a higher rate of congenital malformations in the SGA group compared with the AGA group. 25 Finally, we did not account for potential confounders. However, as evaluated outcomes did not differ between groups, including the composite neonatal adverse outcome, we advocate that potential confounders had a negligible effect on the results.…”

Benefit vs potential harm of genome‐wide prenatal cfDNA testing requires further investigation and should not be dismissed based on current data

“…It is hypothesized that, in cases with CPM, the presence of a trisomy in the placenta alters its function. Pregnancies with CPM have a risk of developing FGR compared to those without CPM, and this is not observed only for trisomy 16. The ratio of placental infarcts nearly doubled in cases with CPM compared to chromosomally normal placentas from FGR fetuses.…”