{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,3]],"date-time":"2026-09-03T08:21:45Z","timestamp":1788423705195,"version":"build-2803163510"},"reference-count":23,"publisher":"Wiley","license":[{"start":{"date-parts":[[2025,12,7]],"date-time":"2025-12-07T00:00:00Z","timestamp":1765065600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>To investigate the additional clinical value of nuchal translucency (NT) measurement at the first\u2010trimester anomaly scan (FTAS) in a setting with first\u2010tier non\u2010invasive prenatal testing (NIPT).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Method<\/jats:title>\n                    <jats:p>This nationwide prospective cohort study, part of the IMITAS study on FTAS implementation, included all pregnancies with increased NT (\u2265\u00a03.5\u00a0mm) at FTAS, subsequently referred for detailed diagnostic scans at eight Dutch tertiary centers (Nov 2021\u2013Nov 2022). Women with abnormal dating scans, abnormal NIPT before FTAS, or high\u2010risk for fetal anomalies were not eligible for FTAS and received diagnostic ultrasound directly. The primary outcome was prenatal diagnosis of structural or genetic anomalies based on pre\u2010 and postnatal findings.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>FTAS was performed in 129,704 pregnancies, of which 230 (0.18%) had an increased NT. Anomalies were detected in 33.9% of these cases. Genetic anomalies included 76.8% aneuploidies, 14.3% SNVs, 8.9% CNVs; 39.3% beyond NIPT's detection scope. Trisomy 21\/18 was diagnosed in 29.3% referred for increased NT without prior NIPT; 73.5% of these opted for termination. Anomaly prevalence increased with greater NT thickness.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>NT measurement adds value in a national screening program including FTAS and NIPT. Prenatal counseling should address trisomies and other genetic abnormalities as a potential result of an abnormal FTAS, particularly when NIPT is declined.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/pd.70047","type":"journal-article","created":{"date-parts":[[2025,12,7]],"date-time":"2025-12-07T16:28:57Z","timestamp":1765124937000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Clinical Utility of Nuchal Translucency Measurement in First\u2010Trimester Ultrasound Screening in a Setting With First\u2010Tier NIPT for Aneuploidy Screening"],"prefix":"10.1002","author":[{"ORCID":"https:\/\/orcid.org\/0009-0009-3266-3646","authenticated-orcid":false,"given":"Eline E. R.","family":"Lust","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology University Medical Center Utrecht  Utrecht the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kim","family":"Bronsgeest","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Leiden University Medical Center  Leiden the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3531-0597","authenticated-orcid":false,"given":"Lidewij","family":"Henneman","sequence":"additional","affiliation":[{"name":"Department of Human Genetics and Amsterdam Reproduction and Development Research Institute Location Vrije Universiteit Amsterdam Amsterdam UMC  Amsterdam the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6808-0874","authenticated-orcid":false,"given":"Neeltje M. T. H.","family":"Crombag","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology University Medical Center Utrecht  Utrecht the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caterina M.","family":"Bilardo","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Amsterdam UMC  Amsterdam the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert\u2010Jan H.","family":"Galjaard","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Erasmus University Medical Center  Rotterdam the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esther","family":"Sikkel","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Radboud University Medical Center  Nijmegen the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Audrey B. C.","family":"Coumans","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology Maastricht University Medical Center+, GROW\u2010 Research Institute for Oncology and Reproduction  Maastricht the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ayten","family":"Elvan\u2010Ta\u015fp\u0131nar","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology University Medical Center Groningen University of Groningen  Groningen the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sander","family":"Galjaard","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Erasmus University Medical Center  Rotterdam the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Attie T. J. 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