{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T16:14:53Z","timestamp":1789661693782,"version":"4.0.1"},"reference-count":19,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2002,10,1]],"date-time":"2002-10-01T00:00:00Z","timestamp":1033430400000},"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":[[2002,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Prenatal diagnosis of the Hunter syndrome (mucopolysaccharidosis type II; MPS II) is preferably achieved by the assay of iduronate\u20102\u2010sulphate sulphatase (IDS) in uncultured chorionic villi (CV) as this allows early (12th week), rapid (2\u20133 days) and reliable results. We summarize the results of 174 prenatal analyses in the past 30 years, using various methods such as radiolabelled sulphate incorporation in amniotic fluid (AF) cells, glycosaminoglycan (GAG)\u2010electrophoresis in AF and IDS assay in CV, CV\u2010cells, AF and AF\u2010cells. Twenty\u2010seven fetuses with MPS II were diagnosed after finding clearly abnormal results in pregnancies with a male fetus; very low IDS activity has also been measured in some pregnancies with a (heterozygous) female fetus, emphasizing the need to combine enzyme assay with fetal sex determination. IDS activity has until recently been assessed by a cumbersome radioactive enzyme assay. Here we describe the use of a novel fluorigenic 4\u2010methylumbelliferyl substrate, which allows a sensitive, rapid and convenient assay of IDS activity and reliable early prenatal diagnosis. This novel IDS assay was validated in retrospective analyses of 14 CV, CV\u2010cell, AF and AF\u2010cell samples from affected pregnancies in addition to prospective prenatal diagnosis in eight pregnancies at risk with one MPS II\u2010affected fetus. Copyright \u00a9 2002 John Wiley &amp; Sons, Ltd.<\/jats:p>","DOI":"10.1002\/pd.457","type":"journal-article","created":{"date-parts":[[2002,11,8]],"date-time":"2002-11-08T15:25:37Z","timestamp":1036769137000},"page":"1016-1021","source":"Crossref","is-referenced-by-count":23,"title":["Prenatal diagnosis of the Hunter syndrome and the introduction of a new fluorimetric enzyme assay"],"prefix":"10.1002","volume":"22","author":[{"given":"J. L. M.","family":"Keulemans","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I.","family":"Sinigerska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V. H.","family":"Garritsen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. G. M.","family":"Huijmans","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y. V.","family":"Voznyi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"O. P.","family":"van Diggelen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W. J.","family":"Kleijer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2002,10]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970040306"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1986.tb01896.x"},{"key":"e_1_2_1_4_1","first-page":"316","article-title":"Characterization of a deletion at Xq27\u2010q28 associated with unbalanced inactivation of the nonmutant X chromosome","volume":"51","author":"Clarke JTR","year":"1992","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970110911"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM196903272801303"},{"key":"e_1_2_1_7_1","unstructured":"Human Gene Mutation Database (HGMD) Cardiff UK.http:\/\/archive.uwcm.ac.uk\/uwcm\/mg\/ns(for IDS)."},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0008-6215(00)85765-1"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1979.tb01749.x"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(84)92952-0"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00287628"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(77)80707-5"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970020305"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.58.11.911"},{"key":"e_1_2_1_15_1","first-page":"3421","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"Neufeld EF","year":"2001"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2222.1998.00312.x"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1998.tb02654.x"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/0006-291X(82)90911-1"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1012763026526"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320440625"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpd.457","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.457","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,7]],"date-time":"2023-10-07T10:25:51Z","timestamp":1696674351000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.457"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,10]]},"references-count":19,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2002,11]]}},"alternative-id":["10.1002\/pd.457"],"URL":"https:\/\/doi.org\/10.1002\/pd.457","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,10]]}}}