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2017-07-25  Atypical trisomy 18  © Fabrice Cuillier

Atypical trisomy 18
Fabrice Cuillier, MD.
Department of Gynecology, Félix Guyon"Hospital, 97400 Saint-Denis, Ile de la Réunion, France.

Case report
A 26-year-old patient (G3P2) with unremarkable history was referred to our antenatal unit due to a recently diagnosed cardiac malformation. Our evaluation at 25 weeks of gestation revealed the following anomalies:
  • Abnormal profile with frontal edema (8 mm) (Figure N°1A, 1B, 1C, 1D).  
  • Abnormal shape of the head  (Figure N°3A, 3B). 
  • Ventricular septal defect measured 4 mm. The foramen ovale was normal. The aorta was connected directly to the right and the left ventricle (Fallot anomaly ?). A cardiac arrhythmia was noticed.  
  • Clubbed position of the left hand and wrist contraction and abnormal position of the fingers of the hands. Also there was radial aplasia and short ulna. The right hand was normal.    
  • Normal fetal growth. 

The karyotype revealed Trisomy 18 and the couple decided to termination of the pregnancy at 26 weeks.
Anatomopathological analysis was refused.

This fetus showed an atypical trisomy 18, without IUGR, without bilateral hand anomaly, without omphalocele and without choroid plexus cyst.  


Images 1-4: 2D and 3D images showing abnormal fetal profile with frontal edema. 


Images 5-8, videos 1 and 2: 2D and Doppler images of the fetal heart  showing inter-ventricular communication. 

Images 9, 10 and 11: 2D images of the fetal head showing abnormal rounded shaped and umbilical cord cyst.


Images 12-16: 2D and 3D images showing radial aplasia and abnormal left hand. 



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