title: First trimester diagnosis of Gaucher disease in a fetus with trisomy 21.
abstract: A 38-year-old lady, who had a previous infant with type 2 Gaucher disease, underwent prenatal diagnosis by chorionic villus sampling at 9 weeks' gestation. Results on the fresh villus revealed a 47,XY,+21 karyotype and a marked deficiency (2 per cent of control) of beta-glucosidase activity. Following termination, villus material was cultured which initially revealed only a partial enzyme deficiency and a normal female karyotype, i.e., maternal cells. A subsequent culture contained 47,XY,+21 cells which were deficient in beta-glucosidase activity, thus confirming the diagnosis. The results in this interesting case illustrate the potential dangers of maternal cell contamination in cultured villus cells.
authors.affiliation: Department of Pathology, Royal Hospital for Sick Children, Edinburgh, U.K.
authors.forename: G T
authors.initials: GT
authors.lastname: Besley
authors.forename: M E
authors.initials: ME
authors.lastname: Ferguson-Smith
authors.forename: C
authors.initials: C
authors.lastname: Frew
authors.forename: A
authors.initials: A
authors.lastname: Morris
authors.forename: D H
authors.initials: DH
authors.lastname: Gilmore
mesh_terms: D004314:Down Syndrome / Q000150:complications / Q000175:diagnosis* / Q000201:enzymology; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis / Q000201:enzymology; D005333:Fetus / Q000166:cytology*; D005776:Gaucher Disease / Q000150:complications / Q000175:diagnosis* / Q000201:enzymology; D006801:Humans; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011296:Prenatal Diagnosis; D013108:Sphingomyelin Phosphodiesterase / Q000378:metabolism; D001616:beta-Galactosidase / Q000378:metabolism; D001617:beta-Glucosidase / Q000378:metabolism
chemical_list: D013108:Sphingomyelin Phosphodiesterase; D001617:beta-Glucosidase; D001616:beta-Galactosidase