Prenatal diagnosis of carbamoyl-phosphate synthetase deficiency by fetal liver biopsy |
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| Authors: | L Piceni Sereni C Bachmann U Pfister M Buscaglia U Nicolini |
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| Institution: | 1. Laboratory for Metabolic Diseases, I.C.P., Milano, Italy;2. Department of Clinical Chemistry, University of Berne, Switzerland;3. Firsl Institute of Obstetrics and Gynecology, University of Milano, Italy |
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| Abstract: | In a pregnancy at risk for carbamoyl-phosphate synthetase (CPS) deficiency, prenatal diagnosis was attempted by fetal liver biopsy, performed at 18 weeks of gestation. CPS activity was absent and the diagnosis was confirmed after termination of the pregnancy. The technique employed for fetal liver biopsy is described together with an evaluation of its possible role in prenatal diagnosis. |
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| Keywords: | Carbamoyl-phosphate synthetase (CPS 1) Fetal liver biopsy Urea cycle enzymes |
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