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An example of rapid prenatal diagnosis of Fabry's disease usingmicrotechniques

An example of rapid prenatal diagnosis of Fabry's disease usingmicrotechniques In a pregnancy at risk for Fabry's disease, a prenatal diagnosis could be established 11 days after amniocentesis in the 15th week of pregnancy. This was possible by microchemical analysis of the αgalactosidase activity in isolated groups of 100–200 freeze-dried, cultured amniotic fluid cells. The results of this microassay were confirmed by (micro)biochemical analysis in cell homogenates from replicate cultures performed in two independent laboratories. Some problems in prenatal diagnosis of heterozygotes are discussed, as well as the possibilities of microchemical techniques for the more rapid prenatal diagnosis of other lysosomal storage diseases. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Clinical Genetics Wiley

An example of rapid prenatal diagnosis of Fabry's disease usingmicrotechniques

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References (28)

Publisher
Wiley
Copyright
1974 Blackwell Munksgaard
ISSN
0009-9163
eISSN
1399-0004
DOI
10.1111/j.1399-0004.1974.tb01708.x
Publisher site
See Article on Publisher Site

Abstract

In a pregnancy at risk for Fabry's disease, a prenatal diagnosis could be established 11 days after amniocentesis in the 15th week of pregnancy. This was possible by microchemical analysis of the αgalactosidase activity in isolated groups of 100–200 freeze-dried, cultured amniotic fluid cells. The results of this microassay were confirmed by (micro)biochemical analysis in cell homogenates from replicate cultures performed in two independent laboratories. Some problems in prenatal diagnosis of heterozygotes are discussed, as well as the possibilities of microchemical techniques for the more rapid prenatal diagnosis of other lysosomal storage diseases.

Journal

Clinical Genetics – Wiley

Published: Apr 1, 1974

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