Antenatal diagnosis and outcome of agenesis of corpus callosum: A retrospective review of 33 cases

Abstract

Objective: To present antenatal sonographic findings and postnatal outcome of a population of foetuses diagnosed with agenesis of corpus callosum. Material and Methods: 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. Results: 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. Conclusion: The diagnosis of congenital brain malformation is a challenging issue, since additional findings have a considerable effect on prog- nosis; detailed examination with genetic counselling should be performed. (J Turk Ger Gynecol Assoc 2014; 15: 18-21)