{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T20:12:50Z","timestamp":1790107970039,"version":"4.0.1"},"reference-count":41,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2019,11,27]],"date-time":"2019-11-27T00:00:00Z","timestamp":1574812800000},"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":[[2020,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>To give an overview of the genetic and structural abnormalities occurring in fetuses with nuchal translucency (NT) measurement exceeding the 95th percentile at first\u2010trimester screening and to investigate which of these abnormalities would be missed if cell\u2010free fetal DNA (cfDNA) were used as a first\u2010tier screening test for chromosomal abnormalities.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>This is a national study including 1901 pregnancies with NT\u226595th percentile referred to seven university hospitals in the Netherlands between 1 January 2010 and 1 January 2016. All cases with unknown pregnancy outcome were excluded. Results of detailed ultrasound examinations, karyotyping, genotyping, pregnancy and neonatal outcomes, investigation by a clinical geneticist and post\u2010mortem investigations were collected.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      In total, 821 (43%) pregnancies had at least one abnormality. The rate of abnormalities was 21% for fetuses with NT between 95\n                      <jats:sup>th<\/jats:sup>\n                      and 99\n                      <jats:sup>th<\/jats:sup>\n                      percentile and 62% for fetuses with NT\u226599\n                      <jats:sup>th<\/jats:sup>\n                      percentile. Prevalence of single\u2010gene disorders, submicroscopic, chromosomal and structural abnormalities was 2%, 2%, 30% and 9%, respectively.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Although cfDNA is superior to the combined test, especially for the detection of trisomy 21, 34% of the congenital abnormalities occurring in fetuses with increased NT may remain undetected in the first trimester of pregnancy, unless cfDNA is used in combination with fetal sonographic assessment, including NT measurement.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/pd.5590","type":"journal-article","created":{"date-parts":[[2019,11,7]],"date-time":"2019-11-07T15:55:51Z","timestamp":1573142151000},"page":"197-205","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":80,"title":["Is there still a role for nuchal translucency measurement in the changing paradigm of first trimester screening?"],"prefix":"10.1002","volume":"40","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5311-2207","authenticated-orcid":false,"given":"Francesca","family":"Bardi","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynaecology, University Medical Center Groningen University of Groningen  Groningen the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pien","family":"Bosschieter","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology, University Medical Center Groningen University of Groningen  Groningen the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joke","family":"Verheij","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics. University Medical Center Groningen University of Groningen  Groningen the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Attie","family":"Go","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology Erasmus Medical Center Rotterdam  Rotterdam the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monique","family":"Haak","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology University Medical Center Leiden  Leiden the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mireille","family":"Bekker","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology University Medical Center Utrecht  Utrecht the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esther","family":"Sikkel","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology Radboud University Medical Centre Nijmegen  Nijmegen the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Audrey","family":"Coumans","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology Maastricht University Medical Center  Maastricht the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva","family":"Pajkrt","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Amsterdam University Medical Centers, location AMC  Amsterdam the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1894-0626","authenticated-orcid":false,"given":"Caterina","family":"Bilardo","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology, University Medical Center Groningen University of Groningen  Groningen the Netherlands"},{"name":"Department of Obstetrics and Gynecology Amsterdam University Medical Centers, location VUmc  Amsterdam the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,11,27]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.304.6831.867"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.4044"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2014.06.025"},{"key":"e_1_2_9_5_1","unstructured":"PiluG NicolaidesK XimenesRJP: The 18\u201023 week scan.https:\/\/fetalmedicine.org\/var\/uploads\/18\u201023_Weeks_Scan.pdf[9 June2018]."},{"key":"e_1_2_9_6_1","unstructured":"The Fetal Medicine Foundation:Certificates of competence Training and Certification.https:\/\/fetalmedicine.org\/training\u2010n\u2010certification\/certificates\u2010of\u2010competence[12 June2018]."},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4589"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.12504"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3182368a0e"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2011.73"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2010.12.060"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2012.05.021"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.15975"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10897-017-0118-3"},{"key":"e_1_2_9_15_1","unstructured":"The Fetal Medicine Foundation.Nuchal translucency scan. 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