Prenatal genetic considerations in congenital ventriculomegaly and hydrocephalus

DSpace/Manakin Repository

Prenatal genetic considerations in congenital ventriculomegaly and hydrocephalus

Show full item record

Title: Prenatal genetic considerations in congenital ventriculomegaly and hydrocephalus
Author: Etchegaray, Adolfo.; Juarez-Peñalva, Sofía.; Petracchi, Florencia.; Igarzabal, Laura.
Abstract: Abstract Background: Fetal ventriculomegaly (VM) is a frequent finding in prenatal ultrasound. Rather than a proper diagnosis, VM is a sonographic sign, making prenatal counseling a complex and challenging undertaking. VM can range from severe pathologic processes leading to severe neurodevelopmental delay to normal variants. Discussion: 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.
URI: https://riu.austral.edu.ar/handle/123456789/972
Date: 2020-08-31


Files in this item

Files Size Format View Description
Childs Nerv Syst 36, 1645–1660 (2020).pdf 87.31Kb PDF View/Open IA - Etchegaray

This item appears in the following Collection(s)

Show full item record

Search DSpace


Advanced Search

Browse

My Account