{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,11]],"date-time":"2026-03-11T22:41:14Z","timestamp":1773268874592,"version":"3.50.1"},"reference-count":12,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2006,8,30]],"date-time":"2006-08-30T00:00:00Z","timestamp":1156896000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2006,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Evaluation of results in a consecutive series of 29 prenatal diagnoses for the Cockayne syndrome.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Recovery of DNA\u2010synthesis in UV\u2010irradiated cultured fetal cells was measured by scintillation counting of incorporated <jats:sup>3<\/jats:sup>H\u2010thymidine. Semiquantitative autoradiographic assessment of the recovery of RNA\u2010synthesis (RecRS) was used as an adjunctive method.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In 26 of the 29 pregnancies at risk, a definite diagnosis was directly made, based on normal (<jats:italic>n<\/jats:italic> = 23) or clearly reduced (<jats:italic>n<\/jats:italic> = 3) recovery of DNA\u2010synthesis in UV\u2010irradiated cultured chorionic villus (CV) cells (<jats:italic>n<\/jats:italic> = 23) or amniocytes (<jats:italic>n<\/jats:italic> = 3). Adjunctive studies were performed in several pregnancies to corroborate the initial results. On three occasions initial results were unreliable, which required investigation of the recovery of RNA\u2010synthesis (<jats:italic>n<\/jats:italic> = 2) or even additional amniocentesis (<jats:italic>n<\/jats:italic> = 1) to achieve a firm diagnosis. Thus, four affected fetuses were diagnosed in 29 pregnancies at risk (13.8%).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Reliable prenatal diagnosis of the Cockayne syndrome can be made by the demonstration of a strongly reduced recovery of DNA\u2010synthesis in UV\u2010irradiated cultured chorionic villus cells or amniocytes. Assessment of the recovery of RNA\u2010synthesis was needed as an adjunctive method in rare cases of poor cell growth and DNA\u2010synthesis. Copyright \u00a9 2006 John Wiley &amp; Sons, Ltd.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.1541","type":"journal-article","created":{"date-parts":[[2006,8,30]],"date-time":"2006-08-30T10:20:11Z","timestamp":1156933211000},"page":"980-984","source":"Crossref","is-referenced-by-count":16,"title":["Prenatal diagnosis of the Cockayne syndrome: survey of 15 years experience"],"prefix":"10.1002","volume":"26","author":[{"given":"Wim J.","family":"Kleijer","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marianne L. T.","family":"van der Sterre","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Victor H.","family":"Garritsen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anja","family":"Raams","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicolaas G. J.","family":"Jaspers","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,10,9]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"677","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"Bootsma D","year":"2001"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970141005"},{"key":"e_1_2_1_4_1","first-page":"4238","article-title":"Abnormal kinetics of DNA\u2010synthesis in ultraviolet\u2010irradiated cells from patients with Cockayne's syndrome","volume":"39","author":"Lehmann AR","year":"1979","journal-title":"Cancer Res"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(85)92088-4"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.30.8.679"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1086\/301686"},{"key":"e_1_2_1_8_1","first-page":"1473","article-title":"Failure of RNA\u2010synthesis to recover after UV\u2010irradiation: an early defect in cells from individuals with Cockayne's syndrome and xeroderma pigmentosum","volume":"42","author":"Mayne LV","year":"1982","journal-title":"Cancer Res"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320420115"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970080902"},{"key":"e_1_2_1_11_1","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1542\/peds.60.2.135","article-title":"Cockayne syndrome: a cellular sensitivity to ultraviolet light","volume":"60","author":"Schmickel RD","year":"1977","journal-title":"Pediatrics"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1982.tb01424.x"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/21.25.5890"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpd.1541","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.1541","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,15]],"date-time":"2023-11-15T12:00:31Z","timestamp":1700049631000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.1541"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,10]]},"references-count":12,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2006,10]]}},"alternative-id":["10.1002\/pd.1541"],"URL":"https:\/\/doi.org\/10.1002\/pd.1541","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,10]]}}}