Hydrocephalus, dysgenesis of the corpus callosum, atrioventricular septal defect

Fabrice Cuillier, MD*, P. Lemaire, MD**, M. Deshayes, MD**, L. Lagarde, MD***

*   Department of Gynecology, Felix Guyon Hospital, 97400 Saint-Denis, Ile de la Reunion, France. Tel: 0262 905522, Fax: 0262 907730;
**  Sonographer, Mouffia Street, 97400 Saint- Denis, Ile de la Reunion, France;
*** Department of Gynecology, Gabriel Martin Hospital, 97400 Saint-Paul, Ile de la Reunion, France.

Case report

A 37-year-old G2P1, with no known obstetric risk factors and with unremarkable medical history, presented to our unit at 28th week of pregnancy. Her first trimester nuchal translucency was normal, but the triple test wasn"t done. The fetal growth was normal but our investigation revealed following findings:

  • Cerebral anomalies: bilateral ventriculomegaly (17 mm) and dilatation of the third ventricle (7x5 mm); dysgenesis of the corpus callosum;

  • Cardiac anomalies: atrioventricular septal defect.

At 30 weeks the ventriculomegaly increased moderately. At 32 weeks an amniocentesis was performed. The karyotype was normal (46 XX). The MRI of the brain was also performed and confirmed our findings. TORCH, Parvovirus and Chikungunya virus tests were negative.

At 36 weeks a cesarean section was performed (maternal heart indication). The postnatal investigation confirmed our findings.

Images 1, 2: 28th week of pregnancy. Axial scans showing dilated lateral cerebral ventricles and dilated third ventricle.

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Images 3, 4: 30 weeks of pregnancy. Axial scans showing dilated lateral ventricles and dilated third ventricle.

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Images 5, 6: 30 weeks of pregnancy; Image 5 - 2D gray scale ultrasonography showing coronal view of the fetal head with dilated lateral ventricles. Image 6 - color Doppler sagittal image showing abnormal architecture of the pericallosal artery.

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Images 7, 8: MRI images showing hydrocephalus and partial agenesis of the corpus callosum.

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Images 9, 10: 28th week of pregnancy. Four-chamber-view of the heart showing an atrioventricular septal defect.

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Images 11, 12: 28th week of pregnancy. Four-chamber-view of the heart showing an atrioventricular septal defect.

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Image 13: 28th week of pregnancy; Color Doppler ultrasonography showing an atrioventricular septal defect.

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Video 1: 28th week of pregnancy; Color Doppler ultrasonography showing an atrioventricular septal defect.

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