Abstract
Prenatal diagnosis of glycogen storage disease (GSD) type II and type III (McKusick 23230 and 23240) has been performed by enzyme assay in cultivated amniotic fluid cells. We have also performed prenatal diagnosis by amniocentesis in about 30 at risk pregnancies for glycogen storage diseases. Recently, we have reported a case of first-trimester diagnosis of GSD type II using uncultured chorionic villous sampling (Grubisic et al., 1986). In this report, we describe further cases of first-trimester diagnosis of GSD type II in 8 pregnancies using chorionic villi, as well as one case of GSD type III.
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References
Grubisic, A., Shin, Y. S., Meyer, W., Endres, W., Becker, U. and Wischerath, H. First trimester diagnosis of Pompe’s disease (glycogenosis type II) with normal outcome: Assay of acid a-glucosidase in chorionic villous biopsy using antibodies. Clin. Genet. 30 (1986) 298–302
Shin, Y. S., Ungar, R., Rieth, M. and Endres, W. A simple assay for amylo-1, 6-glucosidase to detect heterozygotes for glycogenosis type III in erythrocytes. Clin. Chem. 30 (1984) 1717–1718
Shin, Y. S., Endres, W., Unterreithmeier, J., Rieth, M. and Schaub, J. Diagnosis of Pompe’s disease using leukocytes preparations. Kinetic and immunological studies of 1,4-aglucosidase in human fetal and adult tissues and cultured cells. Clin. Chim. Acta 148 (1985) 9–21
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© 1989 SSIEM and Kluwer Academic Publishers
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Shin, Y.S., Rieth, M., Tausenfreund, J., Endres, W. (1989). First Trimester Diagnosis of Glycogen Storage Disease Type II and Type III. 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_30
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DOI: https://doi.org/10.1007/978-94-009-1069-0_30
Publisher Name: Springer, Dordrecht
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