Prenatal genetic considerations in congenital ventriculomegaly and hydrocephalus.
Adolfo EtchegaraySofia Juarez-PeñalvaFlorencia PetracchiLaura IgarzabalPublished in: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery (2020)
A growing number of genetic conditions with different pathophysiological mechanisms, inheritance patterns, and long-term prognosis have been associated both to isolated and complex fetal VM. These include chromosomal abnormalities, copy number variants, and several single gene diseases. In this review, we describe some of the most common genetic conditions associated with fetal VM and provide a simplified diagnostic workflow for the clinician.