Fabry's Disease: Antenatal Detection

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Science  09 Apr 1971:
Vol. 172, Issue 3979, pp. 174-175
DOI: 10.1126/science.172.3979.174


A procedure is described for the intrauterine detection, at the 17th week of gestation, of a male fetus afflicted with Fabry's disease. The validity of this determination was substantiated by multiple enzyme and lipid analyses of tissue specimens obtained from the afflicted fetus. Fabry's disease may now be included with other X-linked metabolic deficiency diseases that are amenable to precise genetic counseling, through carrier identification, and the monitoring of ensuing pregnancies.