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2006-09-05-14 Trisomy 18 © Cuillier

Trisomy 18

Fabrice Cuillier, MD

Department of Gynecology, Félix Guyon’ Hospital, Ile de la Réunion, France

This is a 40-year-old-woman, G4P3, with a normal nuchal lucency at 13 weeks. The triple test was abnormal (1/120). The patient accepted to perform an amniocentesis. The karyotype was 46 XX (+18). The patient was counseled about the fetal anomalies. An interruption of pregnancy was proposed. The patient refused. An intrauterine growth restriction was present during all pregnancy. An anomaly was seen on the posterior fossa. The cerebellar vermis was hypoplastic. The ear seemed too small compared  to the gestational age. The patient delivered at 38 weeks. The karyotype was confirmed. The baby is still alive at the end of the first month of life.


Note the hypoplastic cerebellar vermis

Small ear

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