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Articles » Aneuploidy » Trisomy 18

2002-09-10-09 Trisomy 18, bilateral radial aplasia © Heredia

Trisomy 18, bilateral radial aplasia

Fernando Heredia, MD

Departamento de Ginecología y Obstetricia, Facultad de Medicina, Universidad de Concepción, Chile. Servicio de Ginecología y Obstetricia, Departamento de Exploración Fetal, Hospital Guillermo Grant Benavente, Concepción, Chile.

Case report

This is a 22-week fetus referred to our center because of an abnormal view of the upper limbs. These are the images we obtained.

Notice the absence of the radius and the particular twist of the hand.

Typical disposition of fingers in “clench fist”.

Fetal ascites

The fetal karyotype was 47,XX+18

There are also some video clips available which show other anomalies found.

Head: strawberry shape of the cranium with a small cleft of the cerebellar vermis but a normal cisterna magna.

Heart: Notice the enlarged heart (cardiothoracic ratio of 50%). All cardiac chambers are distended. Doppler analysis showed regurgitation in all 4 valves, thus polyvalvular dysplasia was proposed in this case.

Detail of both hands.Video clip-1   Video clip-2


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