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 2012-05-05-17 Interruption of the aortic arch ©Fabrice Cuilier www.TheFetus.net    

Interruption of the aortic arch with deletion of Chromosome 22q11.

Fabrice Cuilier,MD
.*, Dr Arsac L.A.**
 
 
 
*  Department of Gynecology, Félix Guyon’Hospital, 97400 Saint-Denis, Ile de la Réunion, France. 
** Department of Neonatology, Félix Guyon’Hospital, 97400 Saint-Paul, Ile de la Réunion, France. 

Case report: 
This patient has two healthy children. In this third pregnancy, the measurement of nuchal translucency was 1 mm (60 mm). 
The triple test was 1: 1400. At 24 weeks, cardiac anomalies were observed.
The patient was referred to our unit at 26 weeks with these findings: 
  • Frontal edema (Figure 1).
  • Normal limb extremities (Figure 2,3). 
  • Normal ears. 
  • Large ventricular septal defect (Figure 4, 5, 6, 7)
  • Normal pulmonary artery with normal branches (Figure 8, 9). 
  • Small ascending aorta (Figure 10,11). 
  • The aortic arch was not visible (Figure 12,13,14); Two-dimensional echocardiography showed only slight curvature of the ascending aorta (Video 1, 2, 3).
  • The descending aorta was normal.
  • Both ventricles were the same size.
  • A thymus of normal appearance.
Figure 1A frontal edema 



Figure 2, 3:  Normal limb extremities 


Figure 4, 5, 6, 7: A large ventricular septal defect.



Figure 8, 9, 10, 11:   A normal pulmonary artery with normal branches and a small ascending aorta  




Figure 12,13,14:  The aortic arch was not visible.



Video clip 1-3:








Amniocentesis was performed. The karyotype was 46XX, but with 22q11 deletion. 
 
The couple decided to continue the pregnancy. 
The child was born at 37 weeks and operated a few days later. Unfortunately, the baby died at the end of the surgery.  
Final diagnosis was the interruption of the aortic arch type B, between common carotid and left subclavian artery.
 
 
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