Trisomy 21, suspected atrioventricular canal

Lech Dudarewicz, MD, Lucjusz Jakubowski, MD, PhD, Wanda Hawula, M. Sc., Magdalena Kozlowska, M. Sc.

Department of Genetics, Polish Mother"s Memorial Hospital, Lodz, Poland

 

The 39-year-old patient with history of normal previous pregnancy, was scanned at 10+4 weeks of gestational age, with biometric measurements in agreement with the menstrual age. Scanning revealed a first trimester fetus with cystic hygroma (NT=6.6 mm) and a heart defect. The "four-chamber-view" had a "Mercedes sign" suggesting a complete form of the atrio-ventricular canal. There was a protosystolic regurgitation of the common valve and a negative A wave in the ductus venosus. The fetal karyotype was regular trisomy 21. Here are some of the images and videos we obtained.

Images 1, 2. Abnormal nuchal translucency.

 

Images 3, 4. Absent nasal bone (left); and transverse plane through the heart with suspected "Mercedes" sign suggesting complete atrioventricular canal.

 

Images 5, 6. Regurgitation at the level of common atrioventricular valve (left); and abnormal ductus venosus waveform (right).

 

Videos 1, 2. Abnormal ductus venosus waveform (left); and transverse plane through the heart with suspected "Mercedes" sign suggesting complete atrioventricular canal (right).