Summary
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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Fukuda, M., Tanaka, A. & Isshiki, G. Variation of lysosomal enzyme activity with gestational age in chorionic villi. J Inherit Metab Dis 13, 862–866 (1990). https://doi.org/10.1007/BF01800210
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DOI: https://doi.org/10.1007/BF01800210