Mild ventriculomegaly as a counselling challenge

Objective: Our purpose was to evaluate the outcome of a group of fetuses with mild ventriculomegaly.

Methods: We retrospectively collected all cases of antenatally diagnosed mild enlargement of the lateral cerebral ventricles (transverse diameter of the atrium between 10 and 15 mm) between 1992 and 1997. Cases were included in the study if no other ultrasonic anomalies (including soft markers) were found. TORCH screening, karyotyping, search for associated anomalies and neurological examination (including imaging) were performed. Outcome information was available for all cases up to 30 months.

Results: Fourteen cases were examined. TORCH was always negative, 1 case with a microdeletion of chromosome 1 was identified. During the course of pregnancy, 2 fetuses showed progression to frank hydrocephalus. Five cases of agenesis of the corpus callosum, 1 of lissencephaly and 1 of heterotopia were eventually diagnosed. After birth 2 syndromes were identified. Three babies died during the follow-up period, among the survivors 4 had severe neurological damage, 2 of them had no associated dysmorphic findings.

Discussion: A heterogeneous group of central nervous system disorders may manifest antenatally as mild ventriculomegaly. The current management may not be able to identify dangerous conditions that present subtle dysmorphic features, or be able to predict abnormal outcome in most of the cases.