Prenatal genetic considerations in congenital ventriculomegaly and hydrocephalus
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Prenatal genetic considerations in congenital ventriculomegaly and hydrocephalus Adolfo Etchegaray 1
&
Sofia Juarez-Peñalva 1 & Florencia Petracchi 2 & Laura Igarzabal 2
Received: 16 January 2020 / Accepted: 25 January 2020 # Springer-Verlag GmbH Germany, part of Springer Nature 2020
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. Keywords Fetal ventriculomegaly . Congenital hydrocephalus . Prenatal diagnosis . Prenatal genetic testing
Introduction Fetal ventriculomegaly (VM), defined as dilatation of the cerebral ventricles, is the most common intracranial anomaly detected on prenatal ultrasound, with an estimated prevalence of up to 1:500 newborns (0.3–1.5/1000) [1]. VM is typically classified in one of two ways based on atrial diameter: mild (10–15 mm) or severe (> 15 mm); or mild (10–12 mm), moderate (13–15 mm), or severe (> 15 mm) [2–4]. Asymmetry of the lateral ventricles is frequent and VM may be unilateral or bilateral. Unilateral VM is found in approximately 50–60% of cases and bilateral VM occurs in approximately 40–50% of cases [5, 6]. Hydrocephalus (HC) is the presence of VM due to increased intracranial pressure, usually caused by obstruction, and progressive macrocephaly [7, 8]. The reported prevalence of congenital HC below 1 year of age in a recent Danish study over a 30-year period, excluding other conditions such as neural tube defects, was 1.1 per 1000 infants (Munch et al. 2012). While these two terms (VM and HC) are often used
* Adolfo Etchegaray [email protected] 1
Unidad de Medicina Fetal, Hospital Universitario Austral, Pilar, Buenos Aires, Argentina
2
Servicio de Genética, CEMIC, Buenos Aires, Argentina
interchangeably, we will refer to VM when dilatation of the cerebral ventricles is detected on prenatal ultrasound. Small variations in the prenatal ultrasound measurement technique may end up in false-positive or false-negative results. The atrium of the lateral ventricle should be measured in the axial transventricular plane at the level of the frontal horns and cavum septum pellucidum, in which the cerebral hemispheres are symmetric in appearance, with the calipers positioned on the internal margin of the medial and lateral walls of the atria, at the level of the parietal-occipital groove, perpendicular to the long axis of the lat
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