{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T11:03:50Z","timestamp":1790420630735,"version":"4.1.0"},"reference-count":39,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2004,5,25]],"date-time":"2004-05-25T00:00:00Z","timestamp":1085443200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"European Union BIOMED2 Concerted Action","award":["CEE BMH4 CT 96-0539"],"award-info":[{"award-number":["CEE BMH4 CT 96-0539"]}]},{"name":"Fondo de Investigaciones Sanitarias","award":["98\/1525"],"award-info":[{"award-number":["98\/1525"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2004,8,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>This study evaluated the prenatal diagnosis of Turner syndrome by ultrasound examination in an unselected population from all over Europe. Data from 19 congenital malformation registries from 11 European countries were analyzed. Turner syndrome was diagnosed in 125 cases (7.2%) in a total of 1,738 chromosome abnormalities. Sixty\u2010seven percent of cases were detected prenatally by ultrasound examination due to the presence of congenital defects. The most frequent anomalies were cystic hygroma (59.5%) and hydrops fetalis (19%). The most frequent karyotype was 45,X (81.6%) followed by different types of mosaicism (16.8%). Significant differences in congenital defects (<jats:italic>P<\/jats:italic>\u2009=\u20090.0003) were observed between 45,X karyotypes and 45,X mosaicism cases. Prenatal counseling for 45,X mosaicism should take into account the expectation of a milder phenotype. In 78.6% of cases diagnosed by ultrasound examination due to congenital anomalies, the pregnancy was terminated. Prenatal detection of Turner syndrome by ultrasound examination was high in this unselected population. \u00a9 2004 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30092","type":"journal-article","created":{"date-parts":[[2004,5,26]],"date-time":"2004-05-26T15:12:53Z","timestamp":1085584373000},"page":"16-20","source":"Crossref","is-referenced-by-count":64,"title":["Turner syndrome: Evaluation of prenatal diagnosis in 19 European registries"],"prefix":"10.1002","volume":"129A","author":[{"given":"Neus","family":"Baena","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"De Vigan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Cariati","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Clementi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Stoll","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.R.","family":"Caball\u00edn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Guitart","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"The Euroscan working group","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2004,7,15]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(199609)16:9<791::AID-PD944>3.0.CO;2-3"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1159\/000263624"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990416)88:2<200::AID-AJMG18>3.0.CO;2-3"},{"key":"e_1_2_4_5_1","unstructured":"British Paediatrics Association Classification of Diseases.1979.The British Paediatrics Association London.1\u2013220."},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(200001)20:1<37::AID-PD748>3.0.CO;2-G"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.0960-7692.2001.00555.x"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.28.3.151"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0003-3995(01)01091-7"},{"key":"e_1_2_4_10_1","unstructured":"EUROCAT Report 7.1997.15 years of surveillance of congenital anomalies in Europe 1980\u20101994. Ed: A EUROCAT Working Group\u2014Scientific Institute of Public Health Louis Pasteur Brussels."},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(199909)19:9<840::AID-PD654>3.0.CO;2-E"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.312.7022.16"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(199602)16:2<109::AID-PD818>3.0.CO;2-D"},{"key":"e_1_2_4_14_1","first-page":"534","article-title":"Cytogenetic and molecular analysis of sex\u2010chromosome monosomy","volume":"42","author":"Hassold T","year":"1988","journal-title":"Am J Hum Genet"},{"key":"e_1_2_4_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00221956"},{"key":"e_1_2_4_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00197261"},{"key":"e_1_2_4_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970070403"},{"key":"e_1_2_4_18_1","first-page":"94","article-title":"Exclusion of chromosomal mosaicism: Tables of 90%, 95%, and 99% confidence limits and comments on use","volume":"29","author":"Hook EB","year":"1977","journal-title":"Am J Hum Genet"},{"key":"e_1_2_4_19_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM197811092991903"},{"key":"e_1_2_4_20_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00289473"},{"key":"e_1_2_4_21_1","first-page":"855","article-title":"The natural history of cytogenetically abnormal fetuses detected at midtrimester amniocentesis which are not terminated electively: New data and estimates of the excess and relative risk of late fetal death associated with 47,+21 and some other karyotypes","volume":"45","author":"Hook EB","year":"1989","journal-title":"Am J Hum Genet"},{"key":"e_1_2_4_22_1","first-page":"179","volume-title":"Genetic disorders and the fetus","author":"Hsu LYF","year":"1998"},{"key":"e_1_2_4_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.242"},{"key":"e_1_2_4_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9378(95)91382-3"},{"key":"e_1_2_4_25_1","unstructured":"1995 Karger S Basel ISCN F Mitelman An international system for human cytogenetics nomenclature"},{"key":"e_1_2_4_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9378(12)90906-0"},{"key":"e_1_2_4_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320420414"},{"key":"e_1_2_4_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(199909)19:9<808::AID-PD637>3.0.CO;2-B"},{"key":"e_1_2_4_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/0140-6736(92)92240-G"},{"key":"e_1_2_4_30_1","first-page":"315","volume-title":"Prenatal diagnosis and screening","author":"Pilu G","year":"1992"},{"key":"e_1_2_4_31_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1984.tb01989.x"},{"key":"e_1_2_4_32_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(01)05487-3"},{"key":"e_1_2_4_33_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0597-54"},{"key":"e_1_2_4_34_1","first-page":"444","article-title":"Molecular studies of chromosomal mosaicism: Relative frequency of chromosome gain or loss and possible role of cell selection","volume":"56","author":"Robinson W","year":"1995","journal-title":"Am J Hum Genet"},{"key":"e_1_2_4_35_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199612053352307"},{"key":"e_1_2_4_36_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.78"},{"key":"e_1_2_4_37_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9378(12)80031-7"},{"key":"e_1_2_4_38_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9378(98)70198-X"},{"key":"e_1_2_4_39_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970150505"},{"key":"e_1_2_4_40_1","first-page":"19","volume-title":"Optimizing health care for Turner patients in the 21st century","author":"Zinn AR","year":"2000"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.30092","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.30092","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,10]],"date-time":"2023-10-10T22:26:35Z","timestamp":1696976795000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.30092"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,7,15]]},"references-count":39,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2004,8,15]]}},"alternative-id":["10.1002\/ajmg.a.30092"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.30092","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,7,15]]}}}