Neurodevelopmental outcome in prenatally diagnosed isolated agenesis of the corpus callosum

Abstract

To evaluate long-term neurodevelopmental outcomes in children with prenatally diagnosed, isolated agenesis of the corpus callosum (ACC). We retrospectively reviewed data for 20 children born between January 1991 and November 2003 in the Haute-Normandie region of France with a prenatal diagnosis of isolated ACC. We collected data on pre-and postnatal neuroimaging findings, clinical features at birth and neurodevelopmental outcomes. Follow-up ranged from 3 to 16 years. ACC was complete in 11 patients (55%), partial in 2 (10%), hypoplastic in 3 (15%) and associated with an interhemispheric cyst in 4 (20%). Neurodevelopmental outcome was normal in 11 (55%) patients, including 8 with complete ACC; moderate disability was present in 5 (25%) patients and severe disability in 4 (20%) patients. In 3 of the 4 patients with severe disability, postnatal cerebral magnetic resonance imaging (MRI) showed additional major cerebral abnormalities. Neurodevelopmental outcome was good in most of our patients with isolated ACC, with 80% of patients having normal outcomes or moderate disabilities. A prenatal diagnosis of isolated ACC may not warrant termination of pregnancy. A carefully interpreted prenatal cerebral MRI is crucial to detect associated cerebral abnormalities; a longer follow-up is necessary to look for moderate disabilities.