Fetal ascites and oligohydramnios: Prenatal diagnosis of a sialic acid storage disease (index case) |
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Authors: | P Poulain S Odent I Maire J Milon J F Proudhon H Jouan B Le Marec |
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Institution: | 1. Groupe de Medecine Foetale, Hopital Universitaire, 2 Rue de l'Hotel-Dieu, 35033 Rennes Cedex, France;2. Service de Biochimie, Hopital Debrousse, 29 Rue Soeur Bouvier, 69322 Lyon Cedex 05, France |
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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. |
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Keywords: | fetal ascites oligohydramnios metabolic disease prenatal diagnosis |
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