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2007-08-27-10 Trisomy 22 mosaicism © Cuillier www.thefetus.net/
Trisomy 22 mosaicism

Fabrice Cuillier, MD.

*      Service de Gynécologie, Hôpital F. Guyon, 97400 Saint-Denis, Réunion, France;


Case report

In 2005 we described a case of 46XX/47XY + 22 mosaicism. Now we are describing another case of trisomy 22 mosaicism, diagnosed by amniocentesis at 16 weeks of pregnancy (46XX/47XY + 22 mosaicism: 7%). A 30-year-old woman (G2P1) was referred to our antenatal unit at 13 weeks. The nuchal translucency was abnormal (3 mm) and an ventricular septal defect was suspected (Images 1, 2, 3, 4). After amniocentesis confirming trisomy 22 mosaicism the the parents opted for continuation of the pregnancy. The second sonography was done at 20 weeks and we found the ventricular septal defect (Images 7, 8) and a small bilateral preauricular tags seemed to be present (Images 5, 6). After the ultrasonography the parents changed their minds and opted for termination of the pregnancy. The anatomopathological analysis was refused.

Images 1, 2: 13 weeks of pregnancy; Transverse scans through the fetal heart with suspected ventricular septal defect.

 

Images 3, 4: 13 weeks of pregnancy; Color Doppler transverse scans through the fetal heart with suspected ventricular septal defect.

 

Images 5, 6: 20 weeks of pregnancy; 3D images showing the fetal ears with preauricular tags (pointing fingers).

Images 7, 8: 20 weeks of pregnancy; Color Doppler transverse scans through the fetal heart with suspected ventricular septal defect.

  

 

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