Abstract
Extract: The number of cultured amniotic fluid cells required for the prenatal diagnosis of metabolic defects can be reduced by using microchemical techniques. Six cases are presented of prenatal monitoring for glycogenosis type II (Pompe's disease), in which α-glucosidase assays were performed in (sub)microliter volumes with 4-methylumbelliferyl-α-D-gIucopyranoside as a substrate. Using cell homogenates, the period of time between amniocentesis (performed in the 14th–15th week of pregnancy) and the diagnosis varied from 12–22 days. This could further be reduced to about 10 days when microchemical enzyme analyses were performed on dissected groups of small numbers (100–300) of freeze-dried cultured cells. The α-glucosidase activities (expressed per cell) obtained by these microtechniques were found to be in good agreement with data from conventional biochemical assays. Furthermore, it was observed that the acid α-glucosidase activity is much lower in primary cultures of amniotic fluid cells, approximately 100–200 pmol/min/mg protein than in cells from later subcultures, which had activities up to 700–1,600 pmol/min/mg 2–3 weeks after the last subcultivation. Primary cultures of normal amniotic fluid cells should therefore be used as a control in prenatal diagnosis; this is especially important when microtechniques are used to enable an early prenatal diagnosis.
Speculation: In prenatal diagnosis of at least seven lysosomal storage diseases the time interval between amniocentesis and the diagnosis can be reduced by using microchemical assays on dissected groups of 100—300 freeze-dried cultured amniotic fluid cells. Correct interpretation of the analytical data requires the use of primary cultures of normal amniotic fluid cells as controls. If enzymatic activities in various strains of fibroblasts and amniotic fluid cells are to be compared, cell cultivation conditions should be strictly controlled.
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Niermeijer, M., Koster, J., Jahodova, M. et al. Prenatal Diagnosis of Type II Glycogenosis (Pompe's Disease) Using Microchemical Analyses. Pediatr Res 9, 498–503 (1975). https://doi.org/10.1203/00006450-197505000-00007
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DOI: https://doi.org/10.1203/00006450-197505000-00007
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