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An example of rapid prenatal diagnosis of Fabry's disease usingmicrotechniques
Author(s) -
Galjaard H.,
Niermeiwr M. F.,
Hahnemann N.,
Mohr J.,
Sørensen S. A.
Publication year - 1974
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1974.tb01708.x
Subject(s) - amniocentesis , prenatal diagnosis , fabry disease , pregnancy , amniotic fluid , medicine , heterozygote advantage , obstetrics , fetus , disease , microchemistry , andrology , pathology , biology , chemistry , biochemistry , genetics , chromatography , genotype , gene
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.