Prenatal diagnosis of cystinosis
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1975-10
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Abstract
Cystinosis was diagnosed in a small quantity of cultured amniotic cells from a 22-week-old fetus by a modified pulse-labeling technique in which intracellular 55Sl-cystine retention was measured. As a result of the above finding, the pregnancy was terminated by administration of prostaglandin. The diagnosis was confirmed when the nonprotien-free cystine cystine content of the kidney, liver, placenta, spleen, thymus, and gut, as well as that of a large amount of cultured amniotic cells, was found to be 100-fold higher than normal levels.
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Beatrice States, Ph.D, Bonnie Blazer, B.A., Dorothy Harris, and Stanton Segal, M.D. Prenatal diagnosis of cystinosis. The Journal of Pediatrics. October 1975.
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