DiGeorge syndrome - new sonographic markers: pedal edema and persistent left superior vena cava

Moshe Bronshtein, MD

Haifa, Israel.

Case report

This was a low risk pregnancy first time seen at 15 weeks of gestation. The mother had cleft lip, but the rest of her anamnesis was non contributive. Our ultrasonographic examination revealed mild nuchal edema, pedal edema and persistent left superior vena cava. Following chromosomal study was normal, but CGH (Comparative Genomic Hybridization) found microdeletion of chromosome 22 – DiGeorge syndrome. The pregnancy was terminated.

Images 1, 2, and video 1, 2: 15 weeks of gestation; the images and videos show persistent left superior vena cava (arrow on the image 1 and green arrowhead at the video 1) and pedal edema of the fetus (arrow at the image 2 and green arrowheads on the video 2). 


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