Monosomy X, hypoplastic left heart

Fabrice Cuillier, MD

Department of Gynecology, Félix Guyon Hospital, 97400 Saint-Denis, Ile de la Réunion, France.

Case report

This is a 28-year-old woman (G2P1), referred to our antenatal unit at 13 weeks of pregnancy. Our ultrasound revealed septate cystic hygroma, generalized subcutaneous edema, hydrothorax and ascites of the fetus. Hypoplastic left heart was also discernible. Hyperechoic interventricular cardiac septum was visible.

Subsequent chorionic villus sampling revealed 45X0 karyotype. The pregnancy was terminated and pathological study found mitral dysplasia and aortic coarctation of the fetus.

Images 1, 2, and 3: 13 weeks of pregnancy; the images 1, 2 show 2D transverse scans of the fetal head with massive cystic hygroma and choroid plexus cysts (image 2). The image 3 shows 3D scan of the fetal head with cystic hygroma (arrows).


Images 4, 5, and 6: 13 weeks of pregnancy; the images 4, 5 show transverse scans of the fetal thorax hydrothorax. The image 6 shows transverse scan of the fetal abdomen with subcutaneous edema.


Videos 1, 2, and 3: 13 weeks of pregnancy; the videos 1, 2 show gray scale (video 1| and color Doppler (video 2) scans of the fetal thorax at the level of the four-chamber view of the heart. Hypoplastic left heart can be discern. ColorDoppler flow is predominanty visible only within the right parts of the heart. Video 3 shows hyperechoic interventricular septum of the heart.

Discussion Board

Start a discussion about this article
Add bookmark Bookmarked