Prenatal diagnosis and outcome of partial agenesis and hypoplasia of the corpus callosum

Wiley - Tập 35 Số 1 - Trang 35-41 - 2010
T. Ghi1, A. Carletti1, E. Contro1, E. Cera1, Giuseppe Di Pietro1, Giovanni Tagliavini1, Laura Michelacci1, Giovanni Tani2, A. Youssef1, Maria Paola Bonasoni3, N. Rizzo1, G. Pelusi1, G. Pilu1
1Department of Obstetrics and Gynecology, University of Bologna, Bologna, Italy
2Department of Paediatric Radiology, University of Bologna, Bologna, Italy
3Department of Pathology, University of Bologna, Bologna, Italy

Tóm tắt

AbstractObjectiveTo present antenatal sonographic findings and outcome of fetuses with hypoplasia or partial agenesis of the corpus callosum.MethodsThe database of our ultrasound laboratory was searched retrospectively for cases of hypoplasia or partial agenesis of the corpus callosum suspected at antenatal neurosonography between 1998 and 2008 and confirmed by pathology or postnatal neuroimaging. In surviving infants, clinical follow‐up had been arranged to assess neurodevelopmental outcome.ResultsNineteen fetuses with callosal underdevelopment were identified at a median gestational age of 22 (range, 21–33) weeks and confirmed at follow‐up, including 14 with partial agenesis and five with hypoplasia. Among the 14 fetuses with partial agenesis, there were additional brain findings in 10, including two with absent cavum septi pellucidi, four with mild isolated ventriculomegaly and four with cerebellar abnormalities, two of which also had ventriculomegaly. Pregnancy was terminated electively in seven of the cases with partial agenesis and there was one neonatal death. Among the six surviving infants, neurodevelopmental outcome was appropriate for age in three at follow up, including two cases with isolated partial agenesis of the corpus callosum. Among the five fetuses with prenatally diagnosed callosal hypoplasia, additional anomalies were present in four. Two cases were terminated electively and three were alive at the time of writing, with a median age of 3 years. Among them, apparently normal neurological development was observed in only one case.ConclusionsAn antenatal diagnosis of callosal underdevelopment is possible by expert sonography. There is often association with other major anomalies. However, even in fetuses with apparently isolated findings, the prognosis is uncertain. Copyright © 2009 ISUOG. Published by John Wiley & Sons, Ltd.

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