Copy number variations and fetal ventriculomegaly

Area of Science:

• Prenatal Diagnosis
• Genetics
• Neurodevelopmental Disorders

Background:

• Ventriculomegaly is a common prenatal sonographic finding linked to congenital infections, chromosomal issues, and structural abnormalities.
• Karyotype analysis is the standard for detecting chromosomal abnormalities in fetuses with ventriculomegaly.
• Chromosomal microarray analysis (CMA) has emerged as a tool for identifying copy number variations (CNVs) in prenatal diagnostics.

Purpose of the Study:

• To review current knowledge on the genetic causes of fetal ventriculomegaly.
• To focus on the association between CNVs and fetal ventriculomegaly.

Main Methods:

• Review of primary articles on CNVs and fetal ventriculomegaly.
• Analysis of recent findings on genetic causes of ventriculomegaly.

Main Results:

• Pathogenic CNVs are identified as a key genetic cause of fetal ventriculomegaly, alongside numerical chromosomal abnormalities and large imbalances.
• CNVs may contribute to the pathology of ventriculomegaly and postnatal neurodevelopmental disorders.
• The presence of pathogenic CNVs in fetuses with ventriculomegaly correlates with other structural anomalies but not the severity of ventriculomegaly.

Conclusions:

• CNVs represent an important genetic etiology for fetal ventriculomegaly.
• CMA should be universally offered to fetuses with ventriculomegaly, irrespective of severity or co-occurring structural anomalies.