OP052: Genetic etiology of prenatally detected isolated moderate to severe ventriculomegaly

Abstract

Ventriculomegaly (VM) is identified on prenatal ultrasound in 0.3-2.0 per 1000 pregnancies and is categorized into three groups based on measurement at the atrial level: mild (≥10-<12mm), moderate (≥12-<15mm), and severe (≥15mm). The literature suggests that approximately 2 to 15% of fetuses with identified VM have an abnormal karyotype, with lower prevalence in isolated cases (1.5-12%) compared to cases with additional anomalies (9.5-36%). Infectious etiologies and clotting disorders are causal in some.