Related Experiment Video
Updated: Aug 7, 2026
07:34
FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Fabry's disease: antenatal detection
Science (New York, N.Y.)
|April 9, 1971
Abstract:
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.
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