{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,12]],"date-time":"2025-09-12T18:52:09Z","timestamp":1757703129141,"version":"3.40.5"},"reference-count":31,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2022,12,13]],"date-time":"2022-12-13T00:00:00Z","timestamp":1670889600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100005860","name":"Helsefonden","doi-asserted-by":"publisher","award":["20\u2010B\u20100065"],"award-info":[{"award-number":["20\u2010B\u20100065"]}],"id":[{"id":"10.13039\/501100005860","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100009708","name":"Novo Nordisk Fonden","doi-asserted-by":"publisher","award":["NNF16OC0018772"],"award-info":[{"award-number":["NNF16OC0018772"]}],"id":[{"id":"10.13039\/501100009708","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100010983","name":"Health Research Fund of Central Denmark Region","doi-asserted-by":"publisher","award":["A2602"],"award-info":[{"award-number":["A2602"]}],"id":[{"id":"10.13039\/501100010983","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2023,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>To investigate if the Down syndrome phenotype differs according to the result of first\u2010trimester combined screening (FTS).<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>We included all Down syndrome cases diagnosed by karyotype in pregnancy or after birth in Denmark during 2005\u20132018. We compared screen positive (odds \u22651:300) and screen negative (odds &lt;1:300) cases as well as screen result subgroups with respect to anthropometrics, congenital malformations, childhood diseases, and hospitalization.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Absolute measures of fetal and birth anthropometrics were comparable between groups. A prenatal malformation diagnosis was more prevalent among screen positive than screen negative cases. Analyses suggested that this could reflect a detection bias. Cases with a screen result of 1:2\u20131:10 had a higher probability of being diagnosed with a malformation prenatally and with severe congenital heart disease (CHD) postnatally compared with a result of 1:11\u20131:300. Screen positive cases more often had non\u2010severe CHD but less often a non\u2010heart malformation compared with screen negative cases, while proportions of severe CHD were similar in these groups. Data on hospitalizations showed inconsistent results.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The 1:300 screening threshold had limited or no value in predicting Down syndrome phenotype severity. In contrast, cases with a screen result between 1:2 and 1:10 may represent a more severe phenotype.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.6284","type":"journal-article","created":{"date-parts":[[2022,12,6]],"date-time":"2022-12-06T07:03:16Z","timestamp":1670310196000},"page":"51-61","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Is the first\u2010trimester combined screening result associated with the phenotype of Down syndrome? A population\u2010based cohort study"],"prefix":"10.1002","volume":"43","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0216-9646","authenticated-orcid":false,"given":"Ellen Hollands","family":"Steffensen","sequence":"first","affiliation":[{"name":"Center for Fetal Diagnostics Aarhus University  Aarhus Denmark"},{"name":"Department of Clinical Genetics Aarhus University Hospital  Aarhus Denmark"},{"name":"Department of Clinical Medicine Aarhus University  Aarhus Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6726-1991","authenticated-orcid":false,"given":"Lars Henning","family":"Pedersen","sequence":"additional","affiliation":[{"name":"Department of Clinical Medicine Aarhus University  Aarhus Denmark"},{"name":"Department of Obstetrics and Gynecology Aarhus University Hospital  Aarhus Denmark"},{"name":"Department of Biomedicine Aarhus University  Aarhus Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6177-5780","authenticated-orcid":false,"given":"Stina","family":"Lou","sequence":"additional","affiliation":[{"name":"Center for Fetal Diagnostics Aarhus University  Aarhus Denmark"},{"name":"DEFACTUM \u2013 Public Health &amp; Health Services Research  Aarhus Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1125-0393","authenticated-orcid":false,"given":"Ida","family":"Vogel","sequence":"additional","affiliation":[{"name":"Center for Fetal Diagnostics Aarhus University  Aarhus Denmark"},{"name":"Department of Clinical Medicine Aarhus University  Aarhus Denmark"},{"name":"Department of Obstetrics and Gynecology Aarhus University Hospital  Aarhus Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"name":"the Danish Fetal Medicine Study Group","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"name":"the Danish Cytogenetic Central Registry Study Group","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,12,13]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1056\/nejmra1706537"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.12488"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2014.06.025"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2004.05.068"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.5165"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10654\u2010016\u20100201\u20103"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1946"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38013"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.6215"},{"volume-title":"Retningslinjer for Fosterdiagnostik: pr\u00e6natal Information, risikovurdering, r\u00e5dgivning og diagnostik","year":"2004","key":"e_1_2_9_11_1"},{"volume-title":"The Danish Fetal Medicine Database: Annual Reports 2012\u20132018","key":"e_1_2_9_12_1"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1159\/000448093"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.2147\/clep.s45228"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.2147\/clep.s99477"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.2147\/clep.s94394"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10654\u2010018\u20100356\u20101"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.2147\/clep.s91125"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.2147\/clep.s15627"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1177\/1403494815575193"},{"volume-title":"EUROCAT Guide 1.4: Instruction for the Registration of Congenital Anomalies","year":"2013","author":"EUROCAT Central Registry","key":"e_1_2_9_21_1"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-0-387-87959-8"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.2656"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/del058"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.7"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.amjcard.2012.11.029"},{"journal-title":"Acta Obstet Gynecol Scand","article-title":"Accuracy of fetal echocardiography diagnosis and anticipated perinatal and early postnatal care in congenital heart disease in mid\u2010gestation","author":"Nurmi MO","key":"e_1_2_9_27_1"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00246\u2010010\u20109648\u20102"},{"key":"e_1_2_9_29_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35711"},{"key":"e_1_2_9_30_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.2010.210534"},{"key":"e_1_2_9_31_1","unstructured":"Al\u2010Zehhawi LhJ KjaergaardS OusagerL FagerbergC SundeL RasmussenM.Danish cytogenetic central register. 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