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  • Title: Prenatal diagnosis of Fabry's disease by direct analysis of chorionic villi.
    Author: Kleijer WJ, Hussaarts-Odijk LM, Sachs ES, Jahoda MG, Niermeijer MF.
    Journal: Prenat Diagn; 1987 May; 7(4):283-7. PubMed ID: 3035532.
    Abstract:
    Six pregnancies of three carriers for X-linked Fabry's disease, were monitored by chromosome and enzyme analysis. Two affected male fetuses were detected by the demonstration of alpha-galactosidase deficiency in amniotic fluid cells and chorionic villi respectively. The use of chorionic villi enabled a diagnosis within a few hours after sampling in the ninth week of pregnancy whereas the use of amniotic fluid cells in the earlier case required two weeks of culturing after amniocentesis in the 16th week. Four female fetuses were found; heterozygosity was demonstrated in one by analysis of clones in the primary amniotic fluid cell culture.
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