Trisomy 21, absent nasal bones

Joao Mendes, MD.

Portugal

This is a 37 year old G2P1 scanned at 12 weeks and 4 days of pregnancy. Ultrasound investigation and positive first trimester biochemical screening revealed high risk of trisomy 21 which was confirmed by consequent amniocentesis. Here are some of the ultrasonographic images we obtained.

Images 1, 2. Sagittal scans showing increased nuchal translucency.

Images 3, 4. Absent nasal bone (left); and abnormal waveform of ductus venosus (right).