Trisomy 21, complete atrioventricular septal defect in the first and second trimester

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

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

 

Case report

A 39-year-old primigravida with unremarkable family and environmental anamnesis presented at 12 weeks of pregnancy (biometry equivalent to 13+4). Ultrasound revealed: NT 2.9 mm (over 95 percentile), a complete form of atrioventricular septal defect with the regurgitation of the common valve, prominent renal pelvises and a sandal gap. The karyotyping revealed a regular trisomy 21. The patient opted to continue the pregnancy.

She presented again at 21+5 weeks (ultrasound dating) with hydrops, massive hydrothorax, short episodes of fetal bradycardia and polyhydramnios. The fetus died in utero a few days later. Here are some of the images and videos that we obtained.

Images 1, 2: 2D ultrasound showing sagittal plane through the nuchal region of the fetus with striking nuchal edema (left); and Doppler tracing demonstrating regurgitation at the level of the common atrioventricular at first trimester of pregnancy (right).

 

Images 3, 4: Color Doppler images of the heart showing atrioventricular septal defect and hydrothorax.

 

Videos 1 and 2: 2D gray scale ultrasound (left) and color Doppler ultrasound (right) at 22nd week of pregnancy showing complete atrioventricular septal defect and hydrothorax. Note the bradycardia on the left clip.