✦ LIBER ✦

Prenatal diagnosis of Gaucher's disease type 2. Ultrasonographic, biochemical and histological aspects

✍ Scribed by R. Sarfati; A. Hubert; M. Dugué-Maréchaud; V. Biran-Mucignat; F. Pierre; D. Bonneau

Publisher: John Wiley and Sons
Year: 2000
Tongue: English
Weight: 154 KB
Volume: 20
Category: Article
ISSN: 0197-3851
DOI: 10.1002/(sici)1097-0223(200004)20:4<340::aid-pd795>3.0.co;2-n

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✦ Synopsis

We report on the early prenatal diagnosis of fetal Gaucher disease type 2 by ultrasound examination and b-glucosidase activity assay on amniocytes from a fetus of 15 weeks' gestation whose ®rst sibling fetus had previously been affected with hydrops fetalis. These cases emphasize the importance of the pathological examination of all fetuses presenting with hydrops fetalis and also stress that minimal and precocious echographic signs can be suggestive of such a lysosomal storage disease.