title: Comparative study of 15 lysosomal enzymes in chorionic villi and cultured amniotic fluid cells. Early prenatal diagnosis in seven pregnancies at risk for lysosomal storage diseases.
abstract: A large number of chorionic villi samples obtained from women undergoing elective first trimester termination of pregnancy was analysed by enzyme assays similar to those applied to cultured amniotic cells. The levels of 15 lysosomal enzymes were compared to those observed in tissue cultures of amniotic cells obtained through amniocentesis at 16-18 weeks of pregnancy and the results were discussed in order to assess the usefulness of trophoblast biopsy for first trimester diagnosis of hereditary lysosomal diseases. The data suggest the applicability of this source of fetal cells for prenatal diagnosis of fifteen respective genetically determined enzyme deficiencies with the probable exception of alpha-L-iduronidase deficiency. Enzyme determinations were performed on chorionic villi samples of two pregnancies at risk for Tay-Sachs disease, three pregnancies for GM1 gangliosidosis type 1, one for mucopolysaccharidosis type VI and one for Wolman's disease.
mesh_terms: D000649:Amniocentesis; D000653:Amniotic Fluid / Q000201:enzymology*; D002478:Cells, Cultured; D002824:Chorionic Villi / Q000201:enzymology*; D005260:Female; D006801:Humans; D008247:Lysosomes / Q000201:enzymology*; D008661:Metabolism, Inborn Errors / Q000175:diagnosis*; D009087:Mucopolysaccharidosis VI / Q000175:diagnosis; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012306:Risk; D013661:Tay-Sachs Disease / Q000175:diagnosis; D014972:Xanthogranuloma, Juvenile / Q000175:diagnosis