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2001-07-15-14 Trisomy 18, diaphragmatic hernia © Sosa

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,

strawberry-shaped skull,


and diaphragmatic hernia.

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

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