ABSTRACT

To present antenatal sonographic findings and postnatal outcome of a population of foetuses diagnosed with agenesis of corpus callosum.

The database of our ultrasound laboratory was retrospectively searched for cases of agenesis of the corpus callosum suspected at antenatal sonography between 2002 and 2012. The following variables were assessed: maternal age, gestational age at diagnosis, gender, any additional cerebral and extra-cerebral malformations, results of karyotype analysis and pregnancy and foetal/neonatal outcomes.

During the study period, 33 foetuses with agenesis of the corpus callosum were identified antenatally, with a male preponderance. The mean maternal age was 28.48 years. In all cases, pre/postnatal MRI and/or necropsy were performed in order to confirm the diagnosis. Among those, there were additional brain findings in 23 (69.7%) and additional extra-cerebral anomalies in 3 (9.1%) foetuses. Karyotype analysis was performed in 21 of 33 (63.6%) cases. As for pregnancy outcome, the pregnancy was terminated in 14 (42.4%) of the remaining 19 foetuses; eighteen (54.5%) were delivered near term and one (3.1%) who was delivered prematurely died during the neonatal period.

The diagnosis of congenital brain malformation is a challenging issue, since additional findings have a considerable effect on prognosis; detailed examination with genetic counselling should be performed.

Keywords: Agenesis of corpus callosum, foetal MRI, prenatal diagnosis, ultrasound