Comprehensive assessment of fetal ventriculomegaly in a tertiary referral center

Abstract

Fetal ventriculomegaly (VM) is a condition in which the cerebral ventricular diameter measures ≥10 mm during the second and third trimesters of pregnancy as detected by prenatal ultrasound scan. The prognosis of fetal VM vary widely. We conducted the retrospective study aims to systematically evaluate the genetic disorders, congenital cytomegalovirus (CMV) infection, and pregnancy outcomes of ventriculomegaly (VM) in fetuses. Our results demonstrated that non-isolated ventriculomegaly increased linearly with the atrial width. 8.68% VM fetus had chromosomal aberrations through conventional karyotyping, chromosomal microarray analysis revealed additional 4.1% of copy number variants with clinical significance. 2.5% VM fetus were confirmed as CMV intrauterine infection. Additional abnormalities, especially CNS abnormalities often led to TOP and unfavorable outcomes. Severe VM, intrauterine progression or stability are risk factors for unfavorable outcomes. At least 61.9% of the adverse outcomes have the sustained intracranial imaging anomalies. Thus, chromosomal disorders and congenital CMV infection are common etiologies of VM. Consistent prenatal and postnatal imaging scans should be provided for fetuses with VM to ensure better pregnancy management.