β-glucuronidase deficiency: Identification of an affected fetus with simultaneous sampling of chorionic villus and amniotic fluid |
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Authors: | A. Chabás Ph.D. A. Guardiola |
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Affiliation: | Institut de Bioquimica Clinica, Diputació de Barcelona, Apartat de Correus 137, Cerdanyola, Barcelona, Spain |
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Abstract: | Four pregnancies at risk for mucopolysaccharidosis VII were monitored by chorionic villus sampling obtained in the first or second trimester of gestation. One fetus showed reduced β-glucuronidase activity following simultaneous sampling of chorionic villus and amniotic fluid at 17 weeks of gestation. The pregnancy was terminated. Subsequent assay of β-glucuronidase activity in the fetal tissues was consistent with a diagnosis of mucopolysaccharidosis VII, thus confirming that chorionic villus samples provide useful information for diagnosis of this condition. |
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Keywords: | Prenatal diagnosis Mucopolysaccharidosis VII β-Glucuronidase Chorionic villi Amniotic fluid |
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