Prenatal diagnosis and confirmation of infantile sialic acid storage disease |
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| Authors: | E Vamos J Libert N Elkhazen E Jauniaux J Hustin P Wilkin J Baumkötter K Mendla M Cantz G Strecker |
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| Institution: | 1. Departments of Ophthalmology, Hopital Universitaire St Pierre, Brussels;2. Departments of Obstetrics and Gynecology, Hopital Universitaire St Pierre, Brussels;3. Institut de Morphologic Pathologique, Loverval, Belgium;4. Institut fur Pathochemie und Allgemeine Neurochemie, University of Heidelberg, D-6900 Heidelberg, FRG;5. Université des Sciences et Techniques de Lille, Villeneuve d' Ascq, France |
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| Abstract: | Amniocentesis was performed in a pregnancy at risk for infantile sialic acid storage disease. Greatly elevated levels of free sialic acid were found in cell-free amniotic fluid as well as in cultured amniotic cells from the fetus at risk. After incubation of the cultured amniocytes with fetuin labelled in its sialic acid moiety, pulse and chase experiments respectively showed accumulation and impaired release of TCA-soluble radioactive material in the amniotic cells at risk. These data thus clearly indicated that the fetus was affected. After pregnancy termination, ultrastructural studies of fetal organs and placenta showed a generalized storage picture characterized by clear membrane-bound inclusions. The diagnosis was further confirmed by the finding of greatly increased amounts of free sialic acid in fetal organs and cultured fibroblasts. |
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| Keywords: | Infantile sialic acid storage disease sialic acid |
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