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J Turk Ger Gynecol Assoc. 2014 Mar 1;15(1):18-21. doi: 10.5152/jtgga.2014.84666. eCollection 2014.

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

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1
Department of Obstetrics and Gynecology, Hacettepe University Faculty of Medicine, Ankara, Turkey.

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 prognosis; detailed examination with genetic counselling should be performed.

KEYWORDS:

Agenesis of corpus callosum; foetal MRI; prenatal diagnosis; ultrasound

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