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Prenatal diagnosis for Tay‐Sachs disease using chorionic villus sampling
Author(s) -
Grebner Eugene E.,
Jackson Laird G.
Publication year - 1985
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970050503
Subject(s) - chorionic villi , chorionic villus sampling , prenatal diagnosis , amniotic fluid , fetus , in utero , amniocentesis , tay sachs disease , andrology , pregnancy , medicine , biology , pathology , microbiology and biotechnology , disease , genetics
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.