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  • Title: Prenatal diagnosis for Tay-Sachs disease using chorionic villus sampling.
    Author: Grebner EE, Jackson LG.
    Journal: Prenat Diagn; 1985; 5(5):313-20. PubMed ID: 2933645.
    Abstract:
    Prenatal diagnosis for Tay-Sachs disease was performed on 25 patients using chorionic villus sampling (CVS). Nineteen were diagnosed as normal, and six were affected. Normal villus extracts had both hexosaminidase (hex) A and B activity, as determined by Cellogel and polyacrylamide gel electrophoresis, while extracts from affected fetuses had only hex B activity. Compared to cultured amniotic fluid cells or fibroblasts, villi contained less hex A. Hex A levels in fresh villi and cultured trophoblasts were roughly comparable.
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