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.
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.
Entities:
Keywords:
Agenesis of corpus callosum; foetal MRI; prenatal diagnosis; ultrasound
Authors: Maria Francesca Bedeschi; Maria Clara Bonaglia; Rita Grasso; Alda Pellegri; Rosaria Rita Garghentino; Maria Amalia Battaglia; Anna Maria Panarisi; Maja Di Rocco; Umberto Balottin; Nereo Bresolin; Maria Teresa Bassi; Renato Borgatti Journal: Pediatr Neurol Date: 2006-03 Impact factor: 3.372
Authors: S Santo; F D'Antonio; T Homfray; P Rich; G Pilu; A Bhide; B Thilaganathan; A T Papageorghiou Journal: Ultrasound Obstet Gynecol Date: 2012-11 Impact factor: 7.299
Authors: P Volpe; D Paladini; M Resta; A Stanziano; M Salvatore; M Quarantelli; V De Robertis; A L Buonadonna; G Caruso; M Gentile Journal: Ultrasound Obstet Gynecol Date: 2006-05 Impact factor: 7.299
Authors: G Pilu; F Sandri; A Perolo; M C Pittalis; G Grisolia; G Cocchi; M P Foschini; G P Salvioli; L Bovicelli Journal: Ultrasound Obstet Gynecol Date: 1993-09-01 Impact factor: 7.299