Trisomy 13 

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

 

This is a case of a 33-year old multigravida, with unremarkable family history and no environmental exposure. She was scanned at 26th of pregnancy and ultrasound examination revealed:

• Normal fetal biometry, normal fetal movements, situs solitus;

• Normally positioned heart with slight cardiomegaly and pericardial effusion, normal fetal heart rate (FHR 145/min);

• The diagnosis of double outlet right ventricle, atrioventricular canal and transposition of the great arteries were suspected;

• Enlarged gall bladder and prominent intrahepatic segment of the umbilical vein;

• The Nuchal fold was around 6 mm;

• The collecting system of the kidneys was prominent.

Fetal karyotyping revealed trisomy 13. There was also FISH for microdeletion 22q11 performed, which turned out negative. Here are some of the images and videos we obtained.

Figures 1, 2. Ventricular septal defect (left); and overriding aorta (right). 

 

Figures 3, 4. Abnormal 3-vessel view (left); and atrioventricular valves attached at the same level (right).

 

Videos 1, 2, 3. (1) Ventricular septal defect, overriding aorta, abnormal outflow tracts; (2) Abnormal outflow tracts; (3) Ventricular septal defect, overriding aorta, abnormal outflow tracts. 

         

Videos 4, 5, 6. (4) Color Doppler visualisation with ventricular septal defect, overriding aorta, abnormal outflow tracts; (5) Ventricular septal defect and atrioventricular valves attached at the same level; (6) Color Doppler, abnormal outflow tracts - transposition of the great arteries. 

        

Videos 7, 8. Small stomach and large intraabdominal portion of the umbilical artery, large gall bledder.