Journal of Inherited Metabolic Disease

, Volume 13, Issue 6, pp 862–866

Variation of lysosomal enzyme activity with gestational age in chorionic villi

  • M. Fukuda
  • A. Tanaka
  • G. Isshiki


The activities of 14 lysosomal enzymes in chorionic villi at gestational ages of 6–12 weeks were assayed.

Arylsulphatases A and B, α-glucosidase and β-glucuronidase activities increased with advancing gestational age. When compared with the activity in cultured amniotic fluid cells, arylsulphatase A, β-galactosidase, α-glucosidase, heparan N-sulphatase, α-l-iduronidase, α-mannosidase, neuraminidase and sphingomyelinase showed significant differences. All except β-glucuronidase showed lower activity in chorionic villi than in cultured amniotic fluid cells. Prenatal diagnosis using chorionic villi was possible except for α-l-iduronidase.

Storage at −20°C up to 42 days did not significantly affect activity. The results emphasize the importance of using fresh or frozen age-matched control tissue for diagnosis.


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  1. Baum, H., Dogson, K. S. and Spencer, B. The assay of arylsulfatase A and B in human urine.Clin. Chim. Acta (1959) 453–455Google Scholar
  2. Ben-Yoseph, Y., Evans, M. I., Bottoms, S. F., Pack, B. A., Mitchell, D. A., Koppitch, F. C. and Nadler, H. L. Lysosomal enzyme activities in fresh and frozen chorionic villi and in cultured trophoblasts.Clin. Chim. Acta 161 (1986) 307–313Google Scholar
  3. Evans, M. I., Moor, C., Kolodny, E. H., Casassa, M., Schulman, J. D., Landsberger, E. J., Karson, E. M., Dorfmann, A. D., Larsen, J. W. and Barranger, J. A. Lysosomal enzymes in chorionic villi, cultured amniocytes, and cultured skin fibroblasts.Clin. Chim. Acta 157 (1986) 103–108Google Scholar
  4. Fensom, A. H., Jackson, M., Sanguinetti, N., Rodeck, C. H., Morsman, J. M., Coleman, D. V. and Heaton, D. The use of chorionic villi for early prenatal diagnosis of metabolic disorders.J. Med. Genet. 21 (1984) 142Google Scholar
  5. Fowler, B., Giles, L., Cooper, A. and Sardharwalla, B. Chorionic villus sampling: diagnostic uses and limitations of enzyme assays.J. Inher. Metab. Dis. 12 Suppl. 1 (1989) 105–117Google Scholar
  6. Galjaard, H.Genetic Metabolic Diseases. Early Diagnosis and Prenatal Analysis, Elsevier/North Holland Biochemical Press, Amsterdam, New York, Oxford, 1980, pp. 791–858Google Scholar
  7. Gatti, R., Lombardo, C., Filocamo, M., Borrone, C. and Porro, E. Comparative study of 15 lysosomal enzymes in chorionic villi and cultured amniotic fluid cells.Prenat. Diagn. 5 (1985) 329–336Google Scholar
  8. Giles, L., Cooper, A., Flower, B., Sandharwalla, I. B. and Donnai, P. Aryl sulphatase isozymes of chorionic villi: implications for prenatal diagnosis.Prenat. Diagn. 7 (1987) 245–252Google Scholar
  9. Kazy, Z., Rozovsky, I. S. and Bakharev, V. A. Chorion biopsy in early pregnancy: a method of early prenatal diagnosis for inherited disorders.Prenat. Diagn. 2 (1982) 39–45Google Scholar
  10. Lowry, O. H., Rosenbough, N. J., Farr, A. L. and Randall, R. J. Protein measurement with the folin phenol reagent.J. Biol. Chem. 193 (1951) 265–275Google Scholar
  11. Poenaru, L., Kaplan, L., Dumetz, J. and Dreyfus, J. C. Evaluation of possible first trimester prenatal diagnosis in lysosomal diseases by trophoblast biopsy.Pediatr. Res. 18 (1984) 1032–1034Google Scholar
  12. Poenaru, L., Castelnau, L., Choiset, A., Rouquet, Y. and Thepot, F. Lysosomal hydrolase activity in chorionic villi and embryonic cells in culture.Hum. Genet. 69 (1985) 378–379Google Scholar
  13. Sangunetti, N., Marsh, J., Jackson, M., Fenson, A. H., Warren, R. C. and Rodeck, C. H. The arylsulfatases of chorionic villi: potential problems in the first trimester diagnosis of metachromatic leucodystrophy and Maroteaux-Lamy disease.Clin. Genet. 30 (1986) 302–308Google Scholar
  14. Simoni, G., Brambati, B., Danesino, C., Rossella, F., Terzoli, G. L., Ferrari, M. and Fraccaro, M. Efficient direct chromosome analyses and enzyme determinations from chorionic villi samples in the first trimester of pregnancy.Hum. Genet. 63 (1983) 349–357Google Scholar
  15. Simoni, G., Brambati, B., Danesino, C., Terzoli, G. L., Romitti, L., Rossella, F. and Fraccaro, M. Diagnostic application of first trimester trophoblast sampling in 100 pregnancies.Hum. Genet. 66 (1984) 252–259Google Scholar

Copyright information

© SSIEM and Kluwer Academic Publishers 1990

Authors and Affiliations

  • M. Fukuda
    • 1
  • A. Tanaka
    • 1
  • G. Isshiki
    • 1
  1. 1.Department of PediatricsOsaka City University School of MedicineOsakaJapan

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