title: Elevated interferon-alpha in fetal blood in the prenatal diagnosis of Aicardi-Goutières syndrome.
abstract: A case of Aicardi-Goutières syndrome is described in a family with index cases. The diagnosis was made prenatally based on high fetal blood concentration of interferon alpha. The biological measurement could be of interest for further diagnosis of other cases.
authors.affiliation: Département de Périnatologie, Hôpital Robert Debré, Université Denis Diderot, Paris, France.
authors.forename: Carole
authors.initials: C
authors.lastname: Desanges
authors.forename: Pierre
authors.initials: P
authors.lastname: Lebon
authors.forename: Clarisse
authors.initials: C
authors.lastname: Bauman
authors.forename: Edith
authors.initials: E
authors.lastname: Vuillard
authors.forename: Catherine
authors.initials: C
authors.lastname: Garel
authors.forename: Alain
authors.initials: A
authors.lastname: Cordesse
authors.forename: Jean François
authors.initials: JF
authors.lastname: Oury
authors.forename: Yanick
authors.initials: Y
authors.lastname: Crow
authors.forename: Dominique
authors.initials: D
authors.lastname: Luton
mesh_terms: D000328:Adult; D015415:Biomarkers / Q000097:blood / Q000134:cerebrospinal fluid; D005260:Female; D005312:Fetal Blood / Q000378:metabolism*; D005315:Fetal Diseases / Q000175:diagnosis*; D020271:Heredodegenerative Disorders, Nervous System / Q000175:diagnosis*; D006801:Humans; D007231:Infant, Newborn; D016898:Interferon-alpha / Q000097:blood* / Q000134:cerebrospinal fluid; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013577:Syndrome
chemical_list: D015415:Biomarkers; D016898:Interferon-alpha