Summary
Control ranges for enzymes in uncultured chorionic villi were established, based on: (1) 21 of 22 enzymes (mainly lysosomal) in villi had similar properties to the enzyme in cultured fibroblasts; (2) isoenzyme patterns in villi were similar to those in fibroblasts for five lysosomal enzymes but different for aryl sulphatases; (3) control ranges were determined for 12 enzymes in abortion villi and for 21 enzymes in biopsy villi, values tending to be higher in the latter for those enzymes studied in both types of sample; (4) storage of samples under various conditions revealed no major changes in activity of seven lysosomal enzymes.
A number of potential pitfalls in the use of chorionic villus samples for diagnosis of metabolic disorders by enzyme assay are described: (1) the presence of aryl sulphatase C in chorionic villi, an isoenzyme which may interfere in assays of aryl sulphatase A; (2) the presence of maternal enzyme in chorionic villus material illustrated by the detection of the A isoenzyme of B-hexosaminidase in chorionic villus from a pregnancy affected with Sandhoff’s disease; (3) the finding of falsely normal levels of α-iduronidase in chorionic villus samples from a pregnancy affected with Hurler’s disease, probably due to contamination with maternal tissue which has relatively high levels of this enzyme compared with fetal chorionic material: (4) the inadequacy of indirect assays of incorporation of radiolabel into macromolecules using chorionic villi, for example [14C]propionate incorporation for prenatal diagnosis of methylmalonic aciduria.
Provided that such pitfalls are recognized and great care is taken in selection of villus samples and interpretation of results, chorionic villus sampling allows reliable prenatal diagnosis of a large number of disorders using enzyme asays.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Preview
Unable to display preview. Download preview PDF.
References
Besley, G. T. N. and Broadhead, D. M. Prenatal diagnosis of inherited metabolic disease by chorionic villus analysis: The Edinburgh experience. J. Inher. Metab.,Dis. 12 Suppl. 2 (1989) 263–266
Chester, M. A., Hultberg, B. and Sjoblad, S. A comparison of the a-fucosidase activities of human liver and serum. Biochim. Biophys. Acta 485 (1977) 147–155
Coates, P. M., Cornter, J. A., Mennuti, M. T. and Wheeler, J. E. Prenatal diagnosis of Wolman’s disease. Am. J. Med. Genet. 2 (1978) 397–407
Cooper, A., Hatton, C., Thornley, M. and Sardharwalla, I. B. Human ß-mannosidase deficiency: Biochemical findings in plasma, fibroblasts, white cells and urine. J. Inher. Metab. Dis. 11 (1988) 17–29
DiNatale, P. and Ronsisvalle, L. Identification and partial characterisation of two enzyme forms of iduronate sulfatase from human placenta. Biochim. Biophys. Acta 661 (1981) 106–111
Evans, M. I., Moore, C., Kolodny, E. H., Casassa, M., Schulman, J. D., Landsberger, E. J., Karson, E. M., Dorfman, A. D., Larsen Jr., J. W. and Barranger, J. A. Lysosomal enzymes in chorionic villi, cultured amniocytes, and cultured skin fibroblasts. Clin. Chim. Acta 157 (1986) 109–114
Fowler, B., Kraus, J., Packman, S. and Rosenberg, L. E. Homocystinuria: Evidence for three distinct classes of cystathionine ß-synthase mutants in cultured fibroblasts. J. Clin. Invest. 61 (1978) 645–653
Fowler, B., Giles, L., Sardharwalla, I. B., Donnai, P. and Clayton, J. K. First trimester diagnosis of methylmalonic aciduria. Prenat. Diagn. 87 (1988) 207–213
Gatti, R., Lombardo, C., Filcamo, F., Borrone, C. and Porro, E. 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. Prenat. Diagn. 5 (1985) 329–336
Giles, L., Cooper, A., Fowler, B., Sardharwalla, I. B. and Donnai, P. Aryl Sulphatase isoenzymes of chorionic villi: Implications for prenatal diagnosis. Prenat. Diagn. 7 (1987) 245–252
Giles, L., Cooper, A., Fowler, B., Sandharwalla, I. B. and Donnai, P. First trimester prenatal diagnosis of Sandhoff’s disease. Prenat. Diagn. 8 (1988) 199–205
Kleijer, W. J., Van Diggelen, O. P., Janse, H. C., Galjaard, H., Dumez, Y., Boue, J. First trimester diagnosis of Hunter syndrome on chorionic villi. Lancet 2 (1984) 472
Poenaru, L. First trimester prenatal diagnosis of metabolic diseases: A survey in countries from the European Community. Prenat. Diagn. 7 (1987) 333–341
Poenaru, L., Castelnau, L., Besancon, A-M., Nicolesco, H., Akli, S. and Theophil, D. First trimester prenatal diagnosis of metachromatic leukodystrophy in chorionic villi by `immunoprecipitation-electrophoresis’. J. Inher. Metab. Dis. 11 (1988) 123–130
Poenaru, L., Kaplan, L., Dumez, J. and Dreyfus, J. C. Evaluation of possible first trimester prenatal diagnosis in lysosomal diseases by trophoblast biopsy. Pediatr. Res. 18 (1984) 1032–1034
Sachs, E. S., Jahoda, M. G. J., Kleijer, W. J., Pijpers, L. and Galjaard, H. Impact of first-trimester chromosome, DNA and metabolic studies on pregnancies at high genetic risk: Experience with 1000 cases. Am. J. Med. Genet. 29 (1988) 293–303
Sanguinetti, N., Marsh, J., Jackson, M., Fensom, A. H., Warren, R. C. and Rodeck, C. H. The aryl sutphatases of chorionic villi: potential problems in the first-trimster diagnosis of metachromatic leucodystrophy and Maroteaux—Lamy disease. Clin. Genet. 30 (1986) 302–308
Vimal, C. M., Fensom, A. H., Heaton, D., Ward, R. H. T., Garrod, P., Penketh, R. J. A. Prenatal diagnosis of argininosuccinic aciduria by analysis of cultured chorionic villi. Lancet 2 (1984) 521–522
Young, E. P., Whitfield, A. E. and Patrick, A. D. Experience of prenatal diagnosis of chorionic villi in approximately 100 pregnancies at risk for an inherited metabolic disorder. Abstracts of the 26th Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Glasgow, 1988, Abstract No. 04
Author information
Authors and Affiliations
Editor information
Rights and permissions
Copyright information
© 1989 SSIEM and Kluwer Academic Publishers
About this chapter
Cite this chapter
Fowler, B., Giles, L., Cooper, A., Sardharwalla, I.B. (1989). Chorionic Villus Sampling: Diagnostic Uses and Limitations of Enzyme Assays. In: Addison, G.M., Connor, J.M., Harkness, R.A., Pollitt, R.J. (eds) Studies in Inherited Metabolic Disease. Springer, Dordrecht. https://doi.org/10.1007/978-94-009-1069-0_10
Download citation
DOI: https://doi.org/10.1007/978-94-009-1069-0_10
Publisher Name: Springer, Dordrecht
Print ISBN: 978-94-010-6970-0
Online ISBN: 978-94-009-1069-0
eBook Packages: Springer Book Archive