{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T07:11:15Z","timestamp":1788851475002,"version":"build-2803163510"},"reference-count":31,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2020,11,3]],"date-time":"2020-11-03T00:00:00Z","timestamp":1604361600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2021,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>To evaluate time of diagnosis of 22q11.2 deletion and 22q11.2 duplication as well as trisomies 21, 13, and 18 before and after introduction of a prenatal screening program including combined first\u2010trimester screening (cFTS) for the trisomies in Denmark in 2004.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>Cross\u2010sectional, population\u2010based register study employing The Danish Cytogenetic Central Register. Proportions of cases diagnosed 1998\u20102004 and 2005\u20102017 were compared before 14<jats:sup>+0<\/jats:sup> and 22<jats:sup>+0<\/jats:sup> weeks and birth (prenatal cases) or up to 1 or 10\u2009years of age (postnatal cases).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In total, 4562 cases were included. From 1998\u20102004 to 2005\u20102017, the proportion of 22q11.2 deletion cases identified prenatally increased from 4.3% (95% CI: 0.9\u201012.0%) to 27.3% (21.2\u201034.0%), while for 22q11.2 duplication an increase from 0\/6 to 26\/87 (prenatal cases\/all cases) was observed. Similarly, proportions of trisomies 21, 13, and 18 detected before birth increased. A greater proportion of the studied conditions was identified earlier in pregnancy, but not generally earlier in the postnatal course.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Proportions of 22q11.2 deletion and 22q11.2 duplication identified prenatally increased after introduction of a prenatal screening program not aimed specifically to identify these conditions,. A greater proportion of all cases were detected earlier in pregnancy, but not earlier postnatally, following introduction of screening.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.5851","type":"journal-article","created":{"date-parts":[[2020,10,20]],"date-time":"2020-10-20T23:39:36Z","timestamp":1603237176000},"page":"218-225","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Increased prenatal detection of 22q11.2 deletion and 22q11.2 duplication after introduction of nationwide prenatal screening for trisomy 21, trisomy 13, and trisomy 18"],"prefix":"10.1002","volume":"41","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0216-9646","authenticated-orcid":false,"given":"Ellen Hollands","family":"Steffensen","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics Aarhus University Hospital  Aarhus N Denmark"},{"name":"Center for Fetal Diagnostics, Department of Clinical Medicine Aarhus University  Aarhus N Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan","family":"Hyett","sequence":"additional","affiliation":[{"name":"Center for Fetal Diagnostics, Department of Clinical Medicine Aarhus University  Aarhus N Denmark"},{"name":"Royal Prince Alfred Hospital, Women and Babies Sydney Institute for Women, Children and their Families  Sydney New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olav Bj\u00f8rn","family":"Petersen","sequence":"additional","affiliation":[{"name":"Center of Fetal Medicine and Pregnancy, Department of Obstetrics Copenhagen University Hospital  K\u00f8benhavn \u00d8 Denmark"},{"name":"Department of Clinical Medicine University of Copenhagen  K\u00f8benhavn N Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ida","family":"Vogel","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Aarhus University Hospital  Aarhus N Denmark"},{"name":"Center for Fetal Diagnostics, Department of Clinical Medicine Aarhus University  Aarhus N Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"The Danish Cytogenetic Central Registry Study Group","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,11,3]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/aogs.13273"},{"key":"e_1_2_10_3_1","first-page":"337","article-title":"Impact of a new national screening policy for Down's syndrome in Denmark: population based cohort study","volume":"2547","author":"Ekelund CK","year":"2008","journal-title":"BMJ"},{"key":"e_1_2_10_4_1","unstructured":"Sundhedsstyrelsen.Retningslinjer for fosterdiagnostik: pr\u00e6natal information risikovurdering r\u00e5dgivning og diagnostik. Version 1.0. Sundhedsstyrelsen; 2004."},{"key":"e_1_2_10_5_1","unstructured":"The Danish Fetal Medicine Database: Annual Reports 2012\u20102016.https:\/\/www.dfms.dk\/new-page-33. The Danish Fetal Medicine Research Group."},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.17562"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.13270"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1080\/00016340802482994"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2005.07.056"},{"key":"e_1_2_10_10_1","doi-asserted-by":"crossref","unstructured":"Gadsb\u00f8llK VogelI PedersenL PetersenO.22q11 microdeletions and \u2010duplications: How are they detected prenatally? 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