{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,13]],"date-time":"2025-05-13T15:49:55Z","timestamp":1747151395190,"version":"3.40.5"},"reference-count":33,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2024,3,18]],"date-time":"2024-03-18T00:00:00Z","timestamp":1710720000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2024,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>To determine whether implementation of cell\u2010free DNA (cfDNA) testing for aneuploidy as a first\u2010tier test and subsequent abolition of first trimester combined testing (FCT) affected the first trimester detection (&lt;14\u00a0weeks) of certain fetal anomalies.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We performed a geographical cohort study in two Fetal Medicine Units between 2011 and 2020, including 705 fetuses with prenatally detected severe brain, abdominal wall and congenital heart defects. Cases were divided into two groups: before (<jats:italic>n<\/jats:italic>\u00a0=\u00a0396) and after (<jats:italic>n<\/jats:italic>\u00a0=\u00a0309) cfDNA introduction. The primary outcome was the first trimester detection rate (&lt;14\u00a0weeks) overall and for non\u2010chromosomal anomalies solely.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Overall, gastroschisis, AVSD and HLHS were detected more often in the first trimester in the before group compared to the after group, respectively 54.5% versus 18.5% (<jats:italic>p<\/jats:italic>\u00a0=\u00a00.004), 45.9% versus 26.9% (<jats:italic>p<\/jats:italic>\u00a0=\u00a00.008) and 30% versus 3.4% (<jats:italic>p<\/jats:italic>\u00a0=\u00a00.005). After exclusion of chromosomal anomalies identifiable through cfDNA testing, the detection of AVSD remained higher in the before group (43.3% vs. 9.5%, <jats:italic>p<\/jats:italic>\u00a0=\u00a00.02), leading to a possible earlier gestation at termination. The termination of pregnancy (TOP) rate did not differ among the groups. In the after group, referrals for suspected anomalies following a dating scan between 11 and 14\u00a0weeks significantly increased from 17.4% to 29.1% (<jats:italic>p<\/jats:italic>\u00a0&lt;\u00a00.001).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This study underscores the value of a scan dedicated to fetal anatomy in the first trimester as we observed a decline in the early detection of certain fetal anomalies (detectable in the first trimester) subsequent to the abolition of FCT.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.6552","type":"journal-article","created":{"date-parts":[[2024,3,18]],"date-time":"2024-03-18T14:38:06Z","timestamp":1710772686000},"page":"544-554","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Eliminating first trimester combined testing: Consequences for early detection of significant fetal anomalies"],"prefix":"10.1002","volume":"44","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8385-2150","authenticated-orcid":false,"given":"M. A.","family":"Lugthart","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology Amsterdam UMC Location University of Amsterdam  Amsterdam The Netherlands"},{"name":"Amsterdam Reproduction and Development  Amsterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-3595-4598","authenticated-orcid":false,"given":"H.","family":"Heinrich","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Amsterdam UMC Location University of Amsterdam  Amsterdam The Netherlands"},{"name":"Amsterdam Reproduction and Development  Amsterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I.","family":"Ertugrul","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Amsterdam UMC Location University of Amsterdam  Amsterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E. N.","family":"Nsiah\u2010Asare","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Amsterdam UMC Location University of Amsterdam  Amsterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.","family":"van de Kamp","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Amsterdam UMC Location University of Amsterdam  Amsterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I. H.","family":"Linskens","sequence":"additional","affiliation":[{"name":"Amsterdam Reproduction and Development  Amsterdam The Netherlands"},{"name":"Department of Obstetrics and Gynecology Amsterdam UMC Location Vrije Universiteit  Amsterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. C.","family":"van Maarle","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Amsterdam UMC Location University of Amsterdam  Amsterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"van Leeuwen","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Amsterdam UMC Location University of Amsterdam  Amsterdam The Netherlands"},{"name":"Amsterdam Reproduction and Development  Amsterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Pajkrt","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Amsterdam UMC Location University of Amsterdam  Amsterdam The Netherlands"},{"name":"Amsterdam Reproduction and Development  Amsterdam The 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