title: First-trimester diagnosis of Morquio disease type A.
abstract: Since the introduction in 1990 of a novel fluorogenic substrate for galactose-6-sulphate sulphatase we have used this substrate for prospective prenatal diagnosis in 10 pregnancies at risk for Morquio disease type A. Chorionic villi were analysed in five cases. The results indicated an affected fetus in one pregnancy which represents the first case of first-trimester diagnosis of this disorder; heterozygosity was demonstrated in two cases. Following amniocentesis, two affected fetuses and one heterozygote were diagnosed. The results of the present prospective prenatal analyses confirm our previous retrospective studies and demonstrate the reliability and convenience of the 4-methylumbelliferyl substrate.
authors.affiliation: Department of Clinical Genetics, University Hospital, Erasmus University, Rotterdam, The Netherlands. kleijer@kgen.fgg.eur.nl
authors.forename: W J
authors.initials: WJ
authors.lastname: Kleijer
authors.forename: G C
authors.initials: GC
authors.lastname: Geilen
authors.forename: V
authors.initials: V
authors.lastname: Garritsen
authors.forename: J G
authors.initials: JG
authors.lastname: Huijmans
authors.forename: F J
authors.initials: FJ
authors.lastname: Los
authors.forename: Y V
authors.initials: YV
authors.lastname: Voznyi
authors.forename: O P
authors.initials: OP
authors.lastname: van Diggelen
mesh_terms: D000649:Amniocentesis; D000650:Amnion / Q000201:enzymology; D002478:Cells, Cultured; D002811:Chondroitinsulfatases / Q000032:analysis / Q000172:deficiency; D002824:Chorionic Villi / Q000201:enzymology; D005260:Female; D005865:Gestational Age; D006801:Humans; D009085:Mucopolysaccharidosis IV / Q000175:diagnosis* / Q000201:enzymology; D011247:Pregnancy; D011296:Prenatal Diagnosis
chemical_list: D002811:Chondroitinsulfatases; C102295:GALNS protein, human