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 2017-08-27  Case of the week # 456  © Emmanuel Julien
Answer to the case of the week # 456
October 12, 2017 - October 26, 2017

Case report

A 42-year-old woman (G2P1) with unremarkable history, no consanguinity and blood test negative for trisomies 21, 18 and 13 was reffered to our office because of ¨abnormal great vessels¨ with VSD at 22 weeks of gestations.
Our ultrasound examination revealed pulmonar atresia with ventricular septal defect. The pulmonary artery was vascularized by reversed flow via ductus arteriousus and MAPCAs also were seen. The aortic artery was bigger than expected above the ventricular septal defect.

An amniocentesis was done and revealed DiGeorge Syndrome (22q11 deletion syndrome)


Images 1 and 2: fetal profile and 3D rendering of the face.


Images 3, 4 and 5: 2D and Doppler cardiac evaluation showing ventricular septal defect.


Images 6 and 11: 
2D and Doppler cardiac evaluation showing enlarged aorta and narrow pulmonary artery with reverse flow via ductus arteriosus.


Videos 1-4: 2D and color Doppler images showing 4CV with ventricular septal defect, narrowed pulmonary artery with reverse flow, enlarged aorta and MAPCAs (major aorto-pulmonary collateral arteries)

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