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
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Polyhydramnios as a first prenatal symptom of non-ketotic hyperglycinaemia
✍ Scribed by Walter Sterniste; Gerhard Urban; Sylvia Stöckler-Ipsiroglu; Reinhardt Mick; Michael Sacher
- Publisher
- John Wiley and Sons
- Year
- 1998
- Tongue
- English
- Weight
- 117 KB
- Volume
- 18
- Category
- Article
- ISSN
- 0197-3851
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We report three false negative prenatal diagnostic results, using direct measurement of glycine cleavage enzyme activity in uncultured chorionic villus tissue from 290 pregnancies at risk for non-ketotic hyperglycinaemia (NKH). Testing was done by two centres: Vancouver, Canada and Lyon, France. One