Prenatal diagnosis of metabolic diseases on chorionic villi obtained before the ninth week of pregnancy |
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| Authors: | A Minelli M Piantanida G Simoni F Rossella L Romitti B Brambati C Danesino |
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| Institution: | 1. Biologia Generale e Genetica Medica, Università, Pavia, Italy;2. Genetica Umana, Istituto Scienze Biomediche San Paolo, Università, Milano. Italy;3. Laboratorio Citogenetica, Istituti Clinici di Perfezionamento, Milano, Italy;4. II Clinica Ostetrica, Università, Milano, Italy |
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| Abstract: | Nine pregnancies at risk for various metabolic disorders were monitored by prenatal diagnosis on chorionic villi obtained between the sixth and ninth weeks of pregnancy. A diagnosis of an affected fetus was made in five cases (Sandhoff, Tay—Sachs (2), Pompe's, GMI), while metachromatic leukodystrophy, GM1 (2), and Pompe's were excluded in four cases. It is concluded that chorionic villi are a reliable tissue for prenatal diagnosis of metabolic disorders also when obtained before the ninth week. |
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| Keywords: | Prenatal diagnosis Chorionic villi Lysosomal enzymes |
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