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Child's Nervous System
Published in: Child's Nervous System 8/2020

01-08-2020 | Ultrasound | Focus Session

Prenatal genetic considerations in congenital ventriculomegaly and hydrocephalus

Authors: Adolfo Etchegaray, Sofia Juarez-Peñalva, Florencia Petracchi, Laura Igarzabal

Published in: Child's Nervous System | Issue 8/2020

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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.
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Metadata
Title
Prenatal genetic considerations in congenital ventriculomegaly and hydrocephalus
Authors
Adolfo Etchegaray
Sofia Juarez-Peñalva
Florencia Petracchi
Laura Igarzabal
Publication date
01-08-2020
Publisher
Springer Berlin Heidelberg
Published in
Child's Nervous System / Issue 8/2020
Print ISSN: 0256-7040
Electronic ISSN: 1433-0350
DOI
https://doi.org/10.1007/s00381-020-04526-5

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