Polyhydramnios as a prenatal symptom of the DiGeorge/velo-cardio-facial syndrome
✍ Scribed by Koenraad Devriendt; Dominique Van Schoubroeck; Benedicte Eyskens; Greet Vantrappen; Ann Swillen; Marc Gewillig; Monique Dumoulin; Philippe Moerman; Kamiel Vandenberghe; Jean-Pierre Fryns
- Publisher
- John Wiley and Sons
- Year
- 1998
- Tongue
- English
- Weight
- 37 KB
- Volume
- 18
- Category
- Article
- ISSN
- 0197-3851
No coin nor oath required. For personal study only.
✦ Synopsis
Prenatal diagnosis of the DiGeorge/velo-cardio-facial syndrome has become possible since it was recognized that this syndrome is caused by a submicroscopic deletion in chromosome 22q11. In a sporadic patient presenting a conotruncal heart defect and polyhydramnios, the del 22q11 was made prenatally by fluorescence in situ hybridization (FISH) after amniocentesis. Seven additional patients with a del 22q11 were identified, who presented during pregnancy with polyhydramnios. In one of them, unilateral hydronephrosis was present. These findings further add to a growing list of clinical presentations of a del 22q11 and suggest that in patients with polyhydramnios and a conotruncal heart defect or uropathy, fetal karyotyping should be complemented by FISH for a del 22q11.