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Case contributed by Dr Alexandra Stanislavsky


Routine 12 week pregnancy ultrasound

Patient Data

Age: 30 years
Gender: Female

Crown rump length consistent with dates. Markedly thickened nuchal translucency with some degree of additional body wall edema. Anterior abdominal wall defect containing a portion of the liver. Note cord insertion onto the apex of the abdominal protrusion, and the course of the umbilical vein through the protruding part of the liver.  

Case Discussion

Omphalocele is a congenital midline defect, which has numerous syndromic and non-syndromic associations. In this case there is concurrent markedly thickened NT, implying the presence of additional abnormalities. Genetic diagnosis is unknown, but an underlying chromosomal abnormality is likely.

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Case information

rID: 47670
Published: 28th Aug 2016
Last edited: 24th Dec 2019
Inclusion in quiz mode: Included

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