Prenatal diagnosis for Tay-Sachs disease using chorionic villus sampling |
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Authors: | Eugene E. Grebner Laird G. Jackson |
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Affiliation: | Department of Medicine, Division of Medical Genetics, Thomas Jefferson University, Philadelphia, Pennsylvania 19107. U.S.A. |
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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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Keywords: | Prenatal diagnosis Tay-Sachs disease Chononic villus sampling Hexosaminidase |
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