title: Prenatal diagnosis of Gaucher's disease type 2. Ultrasonographic, biochemical and histological aspects.
abstract: We report on the early prenatal diagnosis of fetal Gaucher disease type 2 by ultrasound examination and beta-glucosidase activity assay on amniocytes from a fetus of 15 weeks' gestation whose first 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.
authors.affiliation: Service de Gynécologie-Obstétrique et Médecine de la Reproduction, Hôpital Jean Bernard, CHU de Poitiers, B.P. 577, 86021 Poitiers Cédex, France. r.sarfati@chu-poitiers.fr
authors.forename: R
authors.initials: R
authors.lastname: Sarfati
authors.forename: A
authors.initials: A
authors.lastname: Hubert
authors.forename: M
authors.initials: M
authors.lastname: Dugué-Maréchaud
authors.forename: V
authors.initials: V
authors.lastname: Biran-Mucignat
authors.forename: F
authors.initials: F
authors.lastname: Pierre
authors.forename: D
authors.initials: D
authors.lastname: Bonneau
mesh_terms: D000328:Adult; D000653:Amniotic Fluid / Q000166:cytology; D002478:Cells, Cultured; D005260:Female; D005776:Gaucher Disease / Q000000981:diagnostic imaging* / Q000201:enzymology / Q000473:pathology; D005865:Gestational Age; D006801:Humans; D015160:Hydrops Fetalis / Q000000981:diagnostic imaging; D011247:Pregnancy; D016216:Ultrasonography, Prenatal; D001617:beta-Glucosidase / Q000378:metabolism
chemical_list: D001617:beta-Glucosidase