title: Prenatal diagnosis of atypical Tay-Sachs disease by chorionic villi sampling.
abstract: We studied a family at risk for atypical TSD in which the index case showed, clinically, a late onset and a gradual psychomotor deterioration and biochemically, a residual hex. A activity in leucocytes. Two prenatal diagnoses of affected fetuses were made in this family. The first one on amniotic cells, the second one on trophoblast biopsy samples. Both of them were confirmed after abortion on cultured cells. Prenatal diagnosis of TSD, even of some atypical forms is possible using trophoblast biopsy, but formal confirmation should be obtained on cultured trophoblasts.
mesh_terms: D000028:Abortion, Induced; D000653:Amniotic Fluid / Q000201:enzymology; D001706:Biopsy; D002824:Chorionic Villi / Q000473:pathology*; D004591:Electrophoresis, Polyacrylamide Gel; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006596:Hexosaminidases / Q000378:metabolism; D006801:Humans; D007962:Leukocytes / Q000201:enzymology; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D012306:Risk; D013661:Tay-Sachs Disease / Q000175:diagnosis* / Q000473:pathology; D014327:Trophoblasts / Q000473:pathology
chemical_list: D006596:Hexosaminidases