{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T02:50:29Z","timestamp":1790736629344,"version":"4.1.0"},"reference-count":41,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2025,2,27]],"date-time":"2025-02-27T00:00:00Z","timestamp":1740614400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100009708","name":"Novo Nordisk Fonden","doi-asserted-by":"publisher","award":["NNF16OC00 18772"],"award-info":[{"award-number":["NNF16OC00 18772"]}],"id":[{"id":"10.13039\/501100009708","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100009708","name":"Novo Nordisk Fonden","doi-asserted-by":"publisher","award":["NNFSA170030576"],"award-info":[{"award-number":["NNFSA170030576"]}],"id":[{"id":"10.13039\/501100009708","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ultrasound in Obstet &amp;amp; Gyne"],"published-print":{"date-parts":[[2025,4]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>\n                      To assess the outcome of pregnancies with increased fetal nuchal translucency (NT) thickness and a normal result from chromosomal microarray (CMA)\n                      <jats:italic>vs<\/jats:italic>\n                      conventional karyotyping.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>This was a Danish nationwide registry\u2010based cohort study of all singleton pregnancies seen for combined first\u2010trimester screening between 2008 and 2018. Data on NT thickness and pregnancy outcome were retrieved from the Danish Fetal Medicine Database, whereas data on cytogenetic and molecular karyotypes were retrieved from the Danish Cytogenetic Central Register. Pregnancies were stratified according to NT thickness, and we computed the prevalence of chromosomal aberration, termination of pregnancy (due to non\u2010genetic abnormal findings aside from increased NT), pregnancy loss, major congenital malformation and unaffected live birth (live birth \u2265\u200924\u2009weeks' gestation with no chromosomal aberration or major congenital malformation diagnosed). The prevalence of the different outcomes was further estimated for pregnancies with increased NT (\u2265\u20093.5\u2009mm) and a normal CMA result. Finally, to assess the impact of CMA compared with conventional karyotyping for increased NT, we compared the prevalence of chromosomal aberrations and each pregnancy outcome between the periods 2008\u20132012 and 2014\u20132018 (during which &lt;\u20093% and\u2009&gt;\u200960%, respectively, of pregnancies with increased NT were examined using CMA).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>We identified 557\u2009896 pregnancies with a NT measurement for which outcome data were registered. Fetal NT was \u2265\u20093.5\u2009mm in 3717 (0.7%) pregnancies, of which 3368 (91%) underwent genetic examination. The prevalence of chromosomal aberrations increased significantly with increasing NT thickness, from 21% in pregnancies with NT of 3.5\u20134.4\u2009mm to 69% in pregnancies with NT \u2265\u20096.5\u2009mm. Trisomies 21, 18 and 13 accounted for the majority of chromosomal aberrations diagnosed in all subgroups of increased NT (range, 61\u201387%). In pregnancies with increased NT and a normal CMA result, the prevalence of unaffected live birth decreased significantly from 87% for NT of 3.5\u20134.4\u2009mm to 29% for NT \u2265\u20096.5\u2009mm. Increased uptake of CMA during 2014\u20132018 compared with 2008\u20132012 slightly increased the detection of submicroscopic aberrations. However, a normal CMA result, compared with a normal result from conventional karyotyping, did not substantially improve the prognosis in pregnancies with increased NT.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      Our study reaffirms the association between increased NT and chromosomal aberrations. Although CMA improves diagnostic resolution in pregnancies with increased NT, a normal test result does not substantially impact the prevalence of unaffected live births. This highlights the ongoing need for accurate clinical guidance and continued research, especially as whole\u2010genome sequencing is increasingly adopted in prenatal care. \u00a9 2025 The Author(s).\n                      <jats:italic>Ultrasound in Obstetrics &amp; Gynecology<\/jats:italic>\n                      published by John Wiley &amp; Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/uog.29198","type":"journal-article","created":{"date-parts":[[2025,3,12]],"date-time":"2025-03-12T01:25:11Z","timestamp":1741742711000},"page":"462-469","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["Increased nuchal translucency thickness and normal chromosomal microarray: Danish nationwide cohort study"],"prefix":"10.1002","volume":"65","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1331-3503","authenticated-orcid":false,"given":"K.","family":"Gadsb\u00f8ll","sequence":"first","affiliation":[{"name":"Center for Fetal Medicine, Pregnancy and Ultrasound, Department of Gynecology, Fertility and Obstetrics Copenhagen University Hospital  Rigshospitalet, Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1499-8401","authenticated-orcid":false,"given":"N.","family":"Brix","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Aarhus University Hospital  Aarhus Denmark"},{"name":"Department of Public Health, Research Unit for Epidemiology Aarhus University  Aarhus Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7153-7081","authenticated-orcid":false,"given":"P.","family":"Sandager","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Center for Fetal Medicine Aarhus University Hospital  Aarhus Denmark"},{"name":"Center for Fetal Diagnostics Aarhus University  Aarhus Denmark"},{"name":"Department of Clinical Medicine Aarhus University  Aarhus Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8517-4082","authenticated-orcid":false,"given":"O. B.","family":"Petersen","sequence":"additional","affiliation":[{"name":"Center for Fetal Medicine, Pregnancy and Ultrasound, Department of Gynecology, Fertility and Obstetrics Copenhagen University Hospital  Rigshospitalet, Copenhagen Denmark"},{"name":"Faculty of Health and Medical Sciences, Department of Clinical Medicine University of Copenhagen  Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8100-5983","authenticated-orcid":false,"given":"A. P.","family":"Souka","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Alexandra Hospital National and Kapodistrian University of Athens  Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1266-0711","authenticated-orcid":false,"given":"K. 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