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).