First trimester diagnosis of lesch‐nyhan syndrome: Applications to other disorders of purine metabolism
- 30 April 1985
- journal article
- research article
- Published by Wiley in Prenatal Diagnosis
- Vol. 5 (3) , 183-189
- https://doi.org/10.1002/pd.1970050304
Abstract
The prenatal detection of hypoxanthine phosphoribosyltransferase (HPRT, EC 2.4.2.8) deficiency, the Lesch‐Nyhan syndrome, during the first trimester of an affected pregnancy through the use of chorionic villus sampling is reported. Quantitation of reaction products formed by villus cell extracts from exogenous hypoxanthine‐8‐[14C] or adenine‐8‐[14C] is used in diagnosis. We report the diagnosis of Lesch‐Nyhan syndrome using a chorionic villus specimen and confirmation of that diagnosis. In addition, adenosine deaminase (ADA) and purine nucleoside phosphorylase (PNP), enzymes deficient in inherited immune disorders, are detected in chorionic villus samples. These heritable disorders also appear amenable to early prenatal diagnosis.Keywords
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