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Prenatal diagnosis of cystinosis utilizing chorionic villus sampling |
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| Authors: | M L Smith O L Pellett M M J Cass N G Kennaway N R M Buist J Buckmaster M Golbus G S Spear J A Schneider |
| Institution: | 1. Department of Pediatrics, University of California, San Diego, La Jolla, CA 92093;2. Department of Medical Genetics, Oregon Health Sciences University, Portland, OR 97201;3. Department of Obstetrics and Gynecology, Oregon Health Sciences University, Portland, OR 97201;4. Department of Obstetrics, Gynecology and Reproductive Sciences, University of California, San Francisco, CA 94143;5. Department of Pathology, California College of Medicine, University of California, Irvine, Irvine, CA 92668. U.S.A. |
| Abstract: | The prenatal diagnosis of cystinosis is currently based on the increased amount of free-cystine present in amniotic fluid cells. Amniocyte cultures must be grown for at least 2 weeks to obtain sufficient cells for such measurements. Thus, the diagnosis cannot be made until close to 20 weeks gestational age by this method. We report a case in which chorionic villi were used for direct cystine measurement resulting in the in utero diagnosis of cystinosis at 9 weeks gestational age. The diagnosis was confirmed by the study of cultured chorionic villus cells, and of the 10-week abortus. |
| Keywords: | Prenatal diagnosis Cystinosis Chorionic villus sampling |