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 2016-02-06  Case of the week # 416  © Emmanuel Julien  www.TheFetus.net
Answer to the case of the week # 416
March 17, 2016 - March 31, 2016.

Emmanuel Julien, MD.
Centre hospitalier Le Mans, France.


Case report

A young healthy woman (G1P0) with unremarkable history was sent to our institution to assess polyhydramnios associated with AVSD at 35 weeks of pregnancy. 
The patient had an amniocentesis with CGH-Array at the second trimester and the result was normal.

The ultrasound examination revealed the following findings:
  • Polyhydramnios.
  • Large AVSD with persistent left superior cava vein.
  • Dysplastic and asymmetrical external ears.
  • Small gastric bubble with dilated upper thoracic esophagus, suspicion of tracheo-esophageal fistula.
  • Mild facial dismorphology.
  • Suspected choanal atresia.
  • Probable olfactif sulcus absence.
  • Single umbilical artery.

Based on the ultrasound findings our diagnosis was CHARGE syndrome and it was confirmed by molecular testing (mutation in the CHD7 gene).

The parents asked for termination of pregnancy at 38 weeks.

The ultrasound findings were confirmed by pathologist.



Images 1-8:
2D and color doppler images showing polyhydramnios, dilated oesophagus and small gastric bubble, suspicion of tracheo-esophageal fistula (images 1, 2 and 3). Evaluation of the fetal profile with color doppler (image 4) during nasal breathing shows absence of flow in the nasal cavity.
2D coronal image of the fetal head (image 5) shows probable absence of the olfactory sulcus.
Also a single umbilical artery (image 6) and dysplastic external ears (images 7 and 8) were noticed.

    


Images 9-12: 
3D images showing mild facial dysmorphology and asimmetric and dysplastic external ears.

  


Videos 1-3:
2D and color doppler images showing a l
arge AVSD with persistent left superior cava vein (videos 1 and 2) and dilated upper thoracic oesophagus (video 3).

 


Images 13-16:
gross specimen pathology images showing mild facial dysmorphology and asimmetric and dysplastic external ears.
  
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