30 year old female presenting for routine 12 week pregnancy ultrasound
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Crown rump length consistent with dates. Markedly thickened nuchal translucency with some degree of additional body wall oedema. 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.
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.