{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T15:54:13Z","timestamp":1787241253232,"version":"build-2736575974"},"reference-count":20,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2025,2,17]],"date-time":"2025-02-17T00:00:00Z","timestamp":1739750400000},"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":["Acta Obstet Gynecol Scand"],"published-print":{"date-parts":[[2025,4]]},"abstract":"Abstract<\/jats:title>\n \n Introduction<\/jats:title>\n Decisions concerning nuchal translucency (NT) between 3.0 and 3.4\u2009mm remain controversial, particularly regarding whether to first calculate the combined first trimester screening test or to proceed directly with invasive testing. The literature suggests an increased risk of chromosomal aberration, as well as pathogenic copy number variations (CNVs) on chromosomal microarray, for fetuses with NT between 3.0 and 3.4\u2009mm. The aim of this study was to describe genetic findings of fetuses with NT between 3.0 and 3.4\u2009mm in the first trimester. The secondary objective was to describe ultrasound findings and adverse outcomes for these fetuses. The third objective was to compare genetic, ultrasound findings and adverse outcomes of fetuses with NT between 3.0 and 3.4\u2009mm to those with NT \u22653.5\u2009mm.<\/jats:p>\n <\/jats:sec>\n \n Material and Methods<\/jats:title>\n We conducted an observational, retrospective study in a referral center between 2017 and 2022. Genetic and ultrasound findings were compared between fetuses with NT between 3.0 and 3.4\u2009mm and those with NT\u22653.5\u2009mm. An adverse outcome was defined as one of the following: miscarriage, perinatal death (stillbirth or neonatal death) or termination of pregnancy at parental request, and all major abnormalities or genetic disorders diagnosed before or after delivery.<\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n We included 404 fetuses with NT\u22653.0\u2009mm who had invasive testing with available karyotype and chromosomal microarray, among whom 20.8% (84\/404) had NT between 3.0 and 3.4\u2009mm. The rate of adverse outcomes among fetuses with NT between 3.0 and 3.4\u2009mm was 32.1% (27\/84). The rates of chromosomal aberration, pathogenic CNVs, and major ultrasound abnormalities were 16.7% (14\/84), 6.0%(5\/84), and 9.2% (6\/65), respectively, for fetuses with NT between 3.0 and 3.4\u2009mm. In comparison, fetuses with NT greater than 3.5\u2009mm had higher rates of chromosomal aberration and major ultrasound abnormalities, with rates of 47.5% (152\/320) and 30.2% (49\/162) respectively compared to 16.7% (14\/84) and 9.2% (6\/65) for fetuses with NT between 3.0 and 3.4\u2009mm (\n p<\/jats:italic>\n \u2009<\u20090.001 for both comparisons). However, the rate of pathogenic CNVs was not significantly different between the two groups, with rates of 1.9% (6\/320) for NT\u22653.5\u2009mm and 6.0% (5\/84) for NT between 3.0 and 3.4\u2009mm (\n p<\/jats:italic>\n \u2009=\u20090.06).\n <\/jats:p>\n <\/jats:sec>\n \n Conclusions<\/jats:title>\n The rate of chromosomal aberration and pathogenic CNVs on chromosomal microarray is high among fetuses with NT between 3.0 and 3.4\u2009mm, although these rates remain lower than those observed among fetuses with NT\u22653.5\u2009mm.<\/jats:p>\n <\/jats:sec>","DOI":"10.1111\/aogs.15055","type":"journal-article","created":{"date-parts":[[2025,2,18]],"date-time":"2025-02-18T01:49:02Z","timestamp":1739843342000},"page":"629-636","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Outcomes associated with fetal nuchal translucency between 3.0 and 3.4\u2009mm in the first trimester"],"prefix":"10.1111","volume":"104","author":[{"given":"Manon D. E.","family":"Vriendt","sequence":"first","affiliation":[{"name":"Department of Obstetrics Bordeaux University Hospital Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Rooryck","sequence":"additional","affiliation":[{"name":"Department of Genetics Bordeaux University Hospital Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hugo","family":"Madar","sequence":"additional","affiliation":[{"name":"Department of Obstetrics Bordeaux University Hospital Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fr\u00e9d\u00e9ric","family":"Coatleven","sequence":"additional","affiliation":[{"name":"Department of Obstetrics Bordeaux University Hospital Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie","family":"Vincienne","sequence":"additional","affiliation":[{"name":"Department of Obstetrics Bordeaux University Hospital Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Perrine","family":"Prier","sequence":"additional","affiliation":[{"name":"Department of Obstetrics Bordeaux University Hospital Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Naudion","sequence":"additional","affiliation":[{"name":"Department of Genetics Bordeaux University Hospital Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0009-3625","authenticated-orcid":false,"given":"Lo\u00efc","family":"Sentilhes","sequence":"additional","affiliation":[{"name":"Department of Obstetrics Bordeaux University Hospital Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8482-2815","authenticated-orcid":false,"given":"Hanane","family":"Bouchghoul","sequence":"additional","affiliation":[{"name":"Department of Obstetrics Bordeaux University Hospital Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,2,17]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1469-0705.1998.11060401.x"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1469-0705.2001.00454.x"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.10143"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.3389\/fmed.2021.768997"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bpobgyn.2017.01.003"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gofs.2023.03.007"},{"key":"e_1_2_12_8_1","unstructured":"Haute Autorit\u00e9 de Sant\u00e9. Place Des Tests ADN Libre Circulant Dans Le Sang Maternel Dans Le D\u00e9pistage de La Trisomie 21 Foetale [Role of Maternal blood cell\u2010free DNA tests in foetal trisomy 21 screening]. In French.2017https:\/\/www.has\u2010sante.fr\/jcms\/c_2768510\/fr\/place\u2010des\u2010tests\u2010adn\u2010libre\u2010circulant\u2010dans\u2010le\u2010sang\u2010maternel\u2010dans\u2010le\u2010depistage\u2010de\u2010la\u2010trisomie\u201021\u2010foetale"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.14880"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/aogs.13877"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.4044"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1469-0705.1998.11060391.x"},{"key":"e_1_2_12_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5590"},{"key":"e_1_2_12_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2021.03.050"},{"key":"e_1_2_12_15_1","doi-asserted-by":"publisher","DOI":"10.1097\/AOG.0000000000004107"},{"key":"e_1_2_12_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.17483"},{"key":"e_1_2_12_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.17421"},{"key":"e_1_2_12_18_1","first-page":"1","article-title":"Clinical application of chromosomal microarray analysis in fetuses with increased nuchal translucency and normal karyotype","volume":"11","author":"Su L","year":"2019","journal-title":"Mol Genet Genomic Med"},{"key":"e_1_2_12_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/0140-6736(92)92240-G"},{"issue":"53","key":"e_1_2_12_20_1","first-page":"e1","article-title":"Long\u2010term outcome of children born after a first\u2010trimester measurement of nuchal translucency at the 99th percentile or greater with normal karyotype: a prospective study","volume":"196","author":"Senat MV","year":"2007","journal-title":"Am J Obstet Gynecol"},{"key":"e_1_2_12_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jogoh.2022.102352"}],"container-title":["Acta Obstetricia et Gynecologica Scandinavica"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/aogs.15055","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,4]],"date-time":"2025-04-04T13:11:05Z","timestamp":1743772265000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1111\/aogs.15055"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,2,17]]},"references-count":20,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2025,4]]}},"alternative-id":["10.1111\/aogs.15055"],"URL":"https:\/\/doi.org\/10.1111\/aogs.15055","archive":["Portico"],"relation":{},"ISSN":["0001-6349","1600-0412"],"issn-type":[{"value":"0001-6349","type":"print"},{"value":"1600-0412","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,2,17]]},"assertion":[{"value":"2024-05-14","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-12-12","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-02-17","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}