{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:51:39Z","timestamp":1786978299396,"version":"build-2736575974"},"reference-count":31,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2023,6,11]],"date-time":"2023-06-11T00:00:00Z","timestamp":1686441600000},"content-version":"vor","delay-in-days":10,"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":[[2023,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>To evaluate the clinical significance of nuchal translucency (NT) between the 95th\u201399th percentile in terms of typical and atypical chromosomal\u00a0abnormalities (ACAs), associated fetal congenital defects and postnatal outcome.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>A retrospective cohort study of fetuses with NT between the 95th\u201399th percentile. Data regarding the rate of associated fetal defects, genetic abnormalities and postnatal outcome were collected.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>A total of 306 cases of fetuses with an NT between the 95th\u201399th percentiles were included. The overall rate of genetic abnormalities was 12.1% (37\/306). Chromosomal abnormalities were found in 10.1% (31\/306) of cases and 2% were ACA (6\/306). Within this group, two were pathogenic Copy Number Variants (CNVs) and four were single gene disorders. The overall rate of fetal congenital defects was 13.7% (42\/306). All ACAs were found in fetuses with congenital defects. Postnatally, a new diagnosis of a single gene disorder was made in 0.85% of cases (2\/236).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>The presence of an NT between the 95th\u201399th percentiles carries a 10\u2010fold increased risk of fetal defects, representing an indication for referral for a detailed fetal anatomy evaluation. The risk of ACA is mainly related to the presence of fetal defects, irrespective of the combined test risk.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/pd.6390","type":"journal-article","created":{"date-parts":[[2023,6,2]],"date-time":"2023-06-02T08:11:23Z","timestamp":1685693483000},"page":"929-936","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["The clinical impact of the first\u2010trimester nuchal translucency between the 95th\u201399th percentiles"],"prefix":"10.1002","volume":"43","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4340-7225","authenticated-orcid":false,"given":"Ilaria","family":"Fantasia","sequence":"first","affiliation":[{"name":"Unit of Fetal Medicine and Prenatal Diagnosis Institute for Maternal and Child Health IRCCS \u201cBurlo Garofolo\u201d  Trieste Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Catagini","sequence":"additional","affiliation":[{"name":"Department of Medical Sciences University of Ferrara  Ferrara Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giulia","family":"Zamagni","sequence":"additional","affiliation":[{"name":"Clinical Epidemiology and Public Health Research Unit Institute for Maternal and Child Health IRCCS \u201cBurlo Garofolo\u201d  Trieste Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pantaleo","family":"Greco","sequence":"additional","affiliation":[{"name":"Department of Medical Sciences University of Ferrara  Ferrara Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irene","family":"Bianchini","sequence":"additional","affiliation":[{"name":"Unit of Fetal Medicine and Prenatal Diagnosis Institute for Maternal and Child Health IRCCS \u201cBurlo Garofolo\u201d  Trieste Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sofia","family":"Bussolaro","sequence":"additional","affiliation":[{"name":"Department of Medical, Surgical and Health Sciences University of Trieste  Trieste Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariachiara","family":"Quadrifoglio","sequence":"additional","affiliation":[{"name":"Unit of Fetal Medicine and Prenatal Diagnosis Institute for Maternal and Child Health IRCCS \u201cBurlo Garofolo\u201d  Trieste Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leila","family":"Lo Bello","sequence":"additional","affiliation":[{"name":"Unit of Fetal Medicine and Prenatal Diagnosis Institute for Maternal and Child Health IRCCS \u201cBurlo Garofolo\u201d  Trieste Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lorenzo","family":"Monasta","sequence":"additional","affiliation":[{"name":"Clinical Epidemiology and Public Health Research Unit Institute for Maternal and Child Health IRCCS \u201cBurlo Garofolo\u201d  Trieste Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppe","family":"Ricci","sequence":"additional","affiliation":[{"name":"Unit of Fetal Medicine and Prenatal Diagnosis Institute for Maternal and Child Health IRCCS \u201cBurlo Garofolo\u201d  Trieste Italy"},{"name":"Department of Medical, Surgical and Health Sciences University of Trieste  Trieste Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Flavio","family":"Faletra","sequence":"additional","affiliation":[{"name":"Department of Genetics Institute for Maternal and Child Health IRCCS \u201cBurlo Garofolo\u201d  Trieste Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agnese","family":"Feresin","sequence":"additional","affiliation":[{"name":"Department of Genetics Institute for Maternal and Child Health IRCCS \u201cBurlo Garofolo\u201d  Trieste Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tamara","family":"Stampalija","sequence":"additional","affiliation":[{"name":"Unit of Fetal Medicine and Prenatal Diagnosis Institute for Maternal and Child Health IRCCS \u201cBurlo Garofolo\u201d  Trieste Italy"},{"name":"Department of Medical, Surgical and Health Sciences University of Trieste  Trieste Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,6,11]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.12342"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471\u20100528.1994.tb11946.x"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2004.12.093"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5051"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.2396"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/AOG.0000000000001817"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jogc.2017.01.032"},{"key":"e_1_2_9_9_1","volume-title":"Joint Committee on Genomics in Medicine. 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