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2014-02-03-08 Trisomy 21, 14 weeks © Andreeva www.TheFetus.net
Trisomy 21, 14 weeks

Moscow regions Research Institute of Obstetrics and Gynecology, Medical-Genetics Department, Russia.

Case report

A 25-year-old woman (G1P0) with non-contributive history was sent to our office at 13 weeks + 1 day of gestational age. Our examination revealed following findings:

Images 1: 13+1 weeks - trisomy 21; fetal profile with absent nasal bone and increased nuchal translucency (3.3 mm).



Images 2, 3: 13+1 weeks - trisomy 21; 2D and 3D imaging of fetal spine and ribs - hypoplastic 12th rib can be seen.

 

Images 3, 4: 13+1 weeks - trisomy 21; 3D scan of fetal hands with transverse palmar (simian) crease.

 

Images 3, 4: 13+1 weeks - trisomy 21; 3D scan of fetal face - not very contributive in the diagnosis of the trisomy 21 in this period of pregnancy.



Chorionic villus sampling was performed and revealed trisomy 21 (Down syndrome) of the fetus. The parents opted for the termination of the pregnancy.
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