{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,1,14]],"date-time":"2024-01-14T04:04:07Z","timestamp":1705205047510},"reference-count":9,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,11,21]],"date-time":"2005-11-21T00:00:00Z","timestamp":1132531200000},"content-version":"vor","delay-in-days":7509,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[1985,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The prenatal detection of hypoxanthine phosphoribosyltransferase (HPRT, EC 2.4.2.8) deficiency, the Lesch\u2010Nyhan 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\u20108\u2010[<jats:sup>14<\/jats:sup>C] or adenine\u20108\u2010[<jats:sup>14<\/jats:sup>C] is used in diagnosis. We report the diagnosis of Lesch\u2010Nyhan syndrome using a chorionic villus specimen and confirmation of that diagnosis.<\/jats:p><jats:p>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.<\/jats:p>","DOI":"10.1002\/pd.1970050304","type":"journal-article","created":{"date-parts":[[2007,3,3]],"date-time":"2007-03-03T23:58:40Z","timestamp":1172966320000},"page":"183-189","source":"Crossref","is-referenced-by-count":10,"title":["First trimester diagnosis of lesch\u2010nyhan syndrome: Applications to other disorders of purine metabolism"],"prefix":"10.1002","volume":"5","author":[{"given":"J. Timothy","family":"Stout","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laird G.","family":"Jackson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C. Thomas","family":"Caskey","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,11,21]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"crossref","unstructured":"Boggs B. A. Nussbaum R. L.(1985).Two anonymous X\u2010specific human sequences detecting restriction fragment length polymorphisms in the region Xq26 qter Somatic Cell and Mol. Gen. in press.","DOI":"10.1007\/BF01535226"},{"key":"e_1_2_1_3_1","first-page":"586","article-title":"Diagnosis of fetal trisomy 21 in the first trimester","author":"Brambati B.","year":"1983","journal-title":"Lancet"},{"key":"e_1_2_1_4_1","volume-title":"Pediatric Neurology","author":"Caskey C. T.","year":"1985"},{"key":"e_1_2_1_5_1","first-page":"286","article-title":"Prenatal Tay\u2010Sachs diagnosis by chorionic villi sampling","author":"Grebner E. E.","year":"1983","journal-title":"Lancet"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.80.13.4035"},{"key":"e_1_2_1_7_1","first-page":"1414","article-title":"First trimester fetal diagnosis for hemoglobinopathies: three cases","author":"Old J. M.","year":"1983","journal-title":"Lancet"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00274761"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00286612"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1976.tb00002.x"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpd.1970050304","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.1970050304","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,20]],"date-time":"2023-10-20T13:03:09Z","timestamp":1697806989000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.1970050304"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1985,5]]},"references-count":9,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1985,5]]}},"alternative-id":["10.1002\/pd.1970050304"],"URL":"https:\/\/doi.org\/10.1002\/pd.1970050304","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[1985,5]]}}}