Trisomy 18, diaphragmatic hernia

Alberto Sosa Olavarría, MD, PhD

Perinatology Unit, Carabobo University, Valencia - Venezuela

This 41-year-old G3P2 patient which had a normal ultrasound examination at 18 week and an amniocentesis for advanced maternal age. The karyotype revealed a trisomy 18 and the fetus was rescanned at 21 week (current images). On the second examination the following findings were observed:

Choroid plexus cyst,

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strawberry-shaped skull,

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clinodactyly,

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and diaphragmatic hernia.

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The feet did not demonstrate true rocker-bottom, and there was no radial ray aplasia.

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