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Articles » Aneuploidy » Trisomy 18

2005-08-09-14 Trisomy 18 © Cuillier

Trisomy 18  

Fabrice Cuillier, MD1, Coignard J.P., MD2

1. Dept of Obstetrics and Gynecology, Hôpital Félix Guyon, rue des Topazes, 97400 Saint-Denis, Reunion Island, France. Ph : 0262 90 55 22.
2. Cabinet de radiologie, 97400 Saint Benoit

This is a 30-year-old woman G3, P2. She had no relevant past medical or obstetric history or no exposure to any medicines. The gestational age had been previously confirmed during the first trimester by crown rump length measurement at 12 weeks of gestation. The nuchal translucency was measured (1 mm) and the maternal risk for trisomy 21 was normal.

Subsequent sonogram at 20 weeks of gestation showed an abnormal fetus. Biometry was found to be abnormal and there were brain and limb malformations. The following anomalies were noted:

  • Equine position of the right feet with tibial agenesis
  • Clubbed position of the right hand and wrist contraction

  • Bilateral plexus choroid cyst
  • Hypoplasia of the vermis

  • Cholecystomegaly

    The pregnancy was terminated and all the anomalies were confirmed on the fetus.

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