2015-07-20-22 Case of the week #400 © Dudarewicz www.TheFetus.net
Case of the week #400
July 30, 2015 - August 13, 2015
Lech Dudarewicz, MD, PhD1; Antoni Pyrkosz MD, PhD2; Lucjusz Jakubowski, MD, PhD1.
1. Polish Mother's Memorial Hospital, Department of Genetics, 281/289 Rzgowska St. 93-338 Lodz, Poland; Ph: 48 42 271 11 83;
2. Medical University of Silesia in Katowice; Department of General and Molecular Biology and Genetics, Katowice, Upper Silesia, Poland.
Case report
29-year-old low risk patient underwent first trimester combined screening for fetal aneuploidies (ultrasound + maternal serum biochemistry). The test result was considered normal; ultrasound revealed no abnormalities.
A subsequent second trimester ultrasonographic examination revealed the findings that can be seen on the images and videos below. In view of the findings, a genetic amniocentesis was proposed to the patient. Classical cytogenetics (GTG banding) revealed normal female karyotype and had failed to explain the observed abnormalities. Definitive molecular diagnosis was done only after delivery. The affected girl lived 9 days.
Images 1, 2, videos 1, 2, 3, and 4:
Images 3, 4, videos 5, 6:
Image 5, videos 7, 8:
Image 6, videos 9, 10:
Images 7, 8, videos 11, 12, 13:
Image 9 and video 14:
Image 10 and video 15:
Image 11:
Image 12:
When you have tried to solve the case on your own (no team work here please !) you can find the Answer