Department of Gynecology, Felix Guyon Hospital, 97400 Saint- Denis, Ile de la Reunion, France; tel: 0262 90 55 22; fax : 0262 90 77 30.

Case report

We present a case of a 25-year-old woman scanned at 13 weeks GA. Her medical history was unremarkable. Ultrasound investigation revealed acrania with additional cardiac malformation (with dominant pericardial effusion, atrioventricular defect, great arteries were difficult to assess).
The parents opted for interruption of the pregnancy. Anatomopathological study confirmed the cephalic malformation and the heart analysis discovered an atrio-ventricular septal defect and transposition of the great vessels.

Images 1A, 1B: 13 weeks of gestation - abnormal skull and acrania.

Images 1C, 1D: 13 weeks of gestation. 2D sagittal scan (left) showing abnormal skull and acrania; 3D image (right) showing "frog facies" with exophthalmia.

Images 2A, 3A: Transverse view of the heart at 13 weeks of gestation with atrioventricular defect (left); and sagittal section showing pericardial effusion (right).

Image 4: 13 weeks of pregnancy - 2D coronal view showing hyperechoic kidneys.

Video 1: 13 weeks of gestation; 2D sonography. Video showing abnormal interventricular septum, pericardial effusion and defect of anterior chest closure..