Prenatally diagnosed agenesis of corpus callosum.

Kim, Gwang Jun; Lee, Eun Sil; Lee, Eun Ju; Han, Seung Su; Lee, Sang Hoon; Kim, Dong Ho; Lee, Jung Ju; Yun, Sin Weon

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Original Article

Korean Journal of Obstetrics & Gynecology 2009;52(12):1239-1244.
Published online December 1, 2009.

Prenatally diagnosed agenesis of corpus callosum.

Gwang Jun Kim, Eun Sil Lee, Eun Ju Lee, Seung Su Han, Sang Hoon Lee, Dong Ho Kim, Jung Ju Lee, Sin Weon Yun

¹Department of Obstetrics and Gynecology, Chung-Ang University, Seoul, Korea. gjkim@cau.ac.kr
²Department of Pediatrics, Chung-Ang University, Seoul, Korea.

Abstract

OBJECTIVE
To report the clinical characteristics of the fetuses with agenesis of corpus callosum (ACC) diagnosed by prenatal ultrasonography. METHODS: Between 1998 and 2007, total twenty-two cases of ACC were identified. All cases were diagnosed by the direct evaluation of the corpus callosum using the ultrasonograpy with or without 3D multi-slice technique and color Doppler. Postnatal work-up was done by MRI or autopsy. RESULTS: The median gestational week was 26 weeks (19 to 34 weeks). The most common abnormal ultrasonographic finding was ventriculomegaly, shown in 19 (86.3%) of 22 cases. Absent cavum septum pellucidum and dilated upward displacement of third ventricle were also shown in 18 (81.8%) and 15 (68.2%) of 22 cases, respectively. Postnatal work-up performed in 9 cases (4 live-born babies and 5 still births) additionally confirmed the associated anomalies in three cases including a heart defect, an Aicardi syndrome, and trisomy 18. CONCLUSION: The analysis of 22 cases presented in this report provides the precise materials to understand ACC. Targeted ultrasonographic evaluation may be helpful for prenatal diagnosis of ACC but has the limitation in differentiation of an isolated ACC from complex defect. To solve this limitation, therefore, the meticulous prenatal work-up and counseling would be needed.

Key Words: Agenesis of corpus callosum, Prenatal diagnosis

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