Elevated interferon-alpha in fetal blood in the prenatal diagnosis of Aicardi-Goutières syndrome.
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.
Desanges
Carole
C
Département de Périnatologie, Hôpital Robert Debré, Université Denis Diderot, Paris, France.
Lebon
Pierre
P
Bauman
Clarisse
C
Vuillard
Edith
E
Garel
Catherine
C
Cordesse
Alain
A
Oury
Jean François
JF
Crow
Yanick
Y
Luton
Dominique
D
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
D015415:Biomarkers; D016898:Interferon-alpha