Case report:
This is a case of Trisomy 21. The 25-year-old mother and her husband decided to continue the pregnancy after counselling. Diagnosis was first made with biologic markers (low AFP and high hCG) in the first trimester, the ultrasound was not performed at this time. The 22-week images with poorly view showed abnormal profile, thickness of nuchal skin and incomplete atrioventricular septal defect.
And these following images at 27 weeks showed pathognomonic features:
- Brachycephaly and nasal skin thickness on profile image.
- Partial AVSD with linear insertion of valves, mitral attached on septum (short axis) focus.
- Kidney unremarkable
- Femur length 50th centile
- Increased S/D ratio Doppler
- Normal ear length