title: Fetal ascites and oligohydramnios: prenatal diagnosis of a sialic acid storage disease (index case).
abstract: In a 20-year-old primiparous patient, a routine ultrasound scan performed at 28 weeks revealed fetal ascites, bilateral talipes, and oligohydramnios. This woman, married to possibly her first cousin, was at risk for an autosomal recessive disease, a metabolic disorder. At 29 weeks, an amniotic fluid biochemical study revealed the presence of an abnormal band of free sialic acid, leading to a diagnosis of a congenital form of sialic acid storage disease. Termination of pregnancy was performed at 30 weeks. Measurement of free sialic acid in cultured fetal skin fibroblasts confirmed the diagnosis.
authors.affiliation: Groupe de Medecine Foetale, Hopital Universitaire, Rennes, France.
authors.forename: P
authors.initials: P
authors.lastname: Poulain
authors.forename: S
authors.initials: S
authors.lastname: Odent
authors.forename: I
authors.initials: I
authors.lastname: Maire
authors.forename: J
authors.initials: J
authors.lastname: Milon
authors.forename: J F
authors.initials: JF
authors.lastname: Proudhon
authors.forename: H
authors.initials: H
authors.lastname: Jouan
authors.forename: B
authors.initials: B
authors.lastname: Le Marec
mesh_terms: D000328:Adult; D000649:Amniocentesis; D001201:Ascites / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000209:etiology; D002478:Cells, Cultured; D003241:Consanguinity; D019066:Facies; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000000981:diagnostic imaging; D005347:Fibroblasts / Q000378:metabolism; D006801:Humans; D008099:Liver / Q000648:ultrastructure; D016464:Lysosomal Storage Diseases / Q000175:diagnosis* / Q000000981:diagnostic imaging; D019158:N-Acetylneuraminic Acid; D016104:Oligohydramnios / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000209:etiology; D011247:Pregnancy; D012794:Sialic Acids / Q000378:metabolism*; D016216:Ultrasonography, Prenatal
chemical_list: D012794:Sialic Acids; D019158:N-Acetylneuraminic Acid