Fetal ascites and oligohydramnios: prenatal diagnosis of a sialic acid storage disease (index case).
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.
Poulain
P
P
Groupe de Medecine Foetale, Hopital Universitaire, Rennes, France.
Odent
S
S
Maire
I
I
Milon
J
J
Proudhon
J F
JF
Jouan
H
H
Le Marec
B
B
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
D012794:Sialic Acids; D019158:N-Acetylneuraminic Acid