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First trimester diagnosis of cystinosis using intact chorionic villi |
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| Authors: | A. D. Patrick E. P. Young J. Mossman R. Warren L. Kearney C. H. Rodeck |
| Affiliation: | 1. Institute of Child Health, 30 Guilford Street, London WCI, U.K.;2. Harris-Birthright Research Centre for Fetal Medicine, King's College School of Medicine and Dentistry, Denmark Hill, London SE5 8RX. U.K. |
| Abstract: | Cystinosis was diagnosed in the first trimester of pregnancy by studies of uptake and retention of [35S]-cystine by intact biopsy samples of chorionic villi. The diagnosis was confirmed by similar studies on cell cultures of villi and fetal skin fibroblasts. |
| Keywords: | Cystinosis Chorionic villi Prenatal diagnosis |