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2012-05-05-17 Trisomy 13 ©Contarin   

Trisomy 13

Francesco Contarin, MD.
Clinica Sanatrix -Caracas -  Venezuela. 

Case report:

This is a 39-year-old woman, G3P1 (C-Section) A1, non-contributive history.  
In the first 10 weeks + 4 days of gestation, I found a cystic hygroma and and I thought in a monosomy X0.  The next ultrasound at 11 weeks + 5 days revealed post axial polydactyly. The patient asked for another ultrasound at 13 weeks. Omphalocele, hypertelorism and pathologic nuchal translucency thickness was found.  Amniocentesis at 15 weeks revealed 47XY,+13.

Image 1-4: Cystic hygroma and nuchal translucency thickness

Image 5, 6: Post axial polydactyly and Hypertelorism

Image 7: Omphalocele

Image 8:
Gender appearance of a female fetus.

Image 9-11: Postnatal appearance and genetic result show omphalocele, post axial polydactyly of right hand and ambiguous genitalia with genetic masculine. 

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