Prenatal diagnosis for Tay-Sachs disease using chorionic villus sampling.
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.
Grebner
E E
EE
Jackson
L G
LG
D000653:Amniotic Fluid / Q000201:enzymology; D001706:Biopsy; D002478:Cells, Cultured; D002824:Chorionic Villi / Q000201:enzymology*; D004586:Electrophoresis; D004591:Electrophoresis, Polyacrylamide Gel; D005260:Female; D054818:Hexosaminidase A; D054819:Hexosaminidase B; D006596:Hexosaminidases / Q000032:analysis*; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013661:Tay-Sachs Disease / Q000175:diagnosis*; D014327:Trophoblasts / Q000201:enzymology; D001619:beta-N-Acetylhexosaminidases
D006596:Hexosaminidases; D054818:Hexosaminidase A; D054819:Hexosaminidase B; D001619:beta-N-Acetylhexosaminidases