Trisomy 16 mosaicism detected at mid-trimester amniocentesis is rare and indicative of true fetal mosaicism. We report a case of mosaic trisomy 16 diagnosed by amniocentesis in which the sonographic findings included fetal pulmonary artery stenosis, a single umbilical artery, and early onset fetal growth restriction. The pregnancy was legally terminated. A review of previous reports suggests that abnormalities of outlet tracts are rarely encountered in fetuses with trisomy 16 mosaicism revealed via amniocentesis.
All Science Journal Classification (ASJC) codes
- Radiology Nuclear Medicine and imaging