Chorionic villus sampling: diagnostic uses and limitations of enzyme assays

Journal of Inherited Metabolic Disease
B FowlerI B Sardharwalla

Abstract

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 alpha-iduronidase in chorionic villus samples from a pregnancy affected with Hurler's disease, prob...Continue Reading

References

Jan 1, 1978·American Journal of Medical Genetics·P M CoatesJ E Wheeler
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Jan 1, 1989·Journal of Inherited Metabolic Disease·G T Besley, D M Broadhead
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Sep 15, 1981·Biochimica Et Biophysica Acta·P Di Natale, L Ronsisvalle

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Citations

Jan 1, 1992·Journal of Inherited Metabolic Disease·E P Young
Jan 1, 1990·Journal of Inherited Metabolic Disease·M FukudaG Isshiki
Apr 1, 1991·Archives of Disease in Childhood·B Winchester, E Young
Jan 1, 1994·Prenatal Diagnosis·A H Fensom, P F Benson
Jan 1, 1993·Acta Oto-laryngologica. Supplementum·L E Davis
Dec 2, 1996·American Journal of Medical Genetics·J ChristodoulouB Wilcken

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