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Articles » Aneuploidy » Trisomy 18
2017-07-23  Trisomy 18  © Karine Otaryan

Trisomy 18
Karine Otaryan, MD.

Case report 

A 35-year-old patient (G3P2) with unremarkable history visited our unit for routine ultrasound.
We found in our examination:

-Occipital cephalocele
-Nuchal edema
-Ectopia cordis
-Large abdominal wall defect
-Cloacal extrophy
-Abnormal foot

We thought in Pentalogy Cantrell and OEIS syndrome as a posible diagnosis. 
The pregnancy was interrupted  and postabortion karyotype revealed 47XY +18.

These are the images that we obtained in our first trimester examination showing the findings mentioned above:

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