title: Prenatal diagnosis of disorders of galactose metabolism.
abstract: Of three clinically significant galactose disorders, there is only a real need and experience of prenatal diagnosis in classical galactosaemia. Prenatal diagnosis for this disorder may be carried out by galactose-1-phosphate uridyl transferase assay in cultured amniotic fluid cells or in chorionic villus biopsies and by galactitol estimation in amniotic fluid supernatant. Although the long-term outcome of patients treated on a galactose-restricted diet is recognized to be unsatisfactory, prenatal diagnosis is only rarely performed with a view to terminating the affected pregnancy.
authors.affiliation: Department of Clinical Chemistry, Southmead Hospital, Bristol, UK.
authors.forename: J B
authors.initials: JB
authors.lastname: Holton
authors.forename: J T
authors.initials: JT
authors.lastname: Allen
authors.forename: M G
authors.initials: MG
authors.lastname: Gillett
mesh_terms: D005260:Female; D005686:Galactokinase / Q000172:deficiency*; D005690:Galactose / Q000378:metabolism; D005693:Galactosemias / Q000175:diagnosis*; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis
chemical_list: D005686:Galactokinase; D005690:Galactose