{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T02:55:43Z","timestamp":1781578543872,"version":"3.54.5"},"reference-count":9,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2017,4,23]],"date-time":"2017-04-23T00:00:00Z","timestamp":1492905600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003123","name":"The Fetal Medicine Foundation","doi-asserted-by":"crossref","award":["1037116"],"award-info":[{"award-number":["1037116"]}],"id":[{"id":"10.13039\/501100003123","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ultrasound in Obstet &amp; Gyne"],"published-print":{"date-parts":[[2017,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Objectives<\/jats:title><jats:p>To examine the prevalence of alobar holoprosencephaly, exomphalos, megacystis and nuchal translucency thickness (<jats:styled-content style=\"fixed-case\">NT<\/jats:styled-content>)\u2009\u2265\u20093.5\u2009mm, the incidence and types of chromosomal abnormalities associated with these conditions and their overall impact on the rate of invasive testing and performance of screening at 11\u201314\u2009weeks.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>This was a prospective screening study for trisomies 21, 18 and 13 by the first\u2010trimester combined test at three maternity units in England.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In the study population of 108\u2009982 singleton pregnancies, 870 (0.8%) had abnormal karyotype, including 654 (75.2%) with trisomies 21, 18 or 13 and 216 (24.8%) with other chromosomal abnormalities. The prevalence of alobar holoprosencephaly, exomphalos, megacystis and <jats:styled-content style=\"fixed-case\">NT<\/jats:styled-content> \u2265\u20093.5\u2009mm was 1 in 2945, 1 in 419, 1 in 1345 and 1 in 119, respectively. Chromosomal abnormalities were observed in 78.4% of cases of holoprosencephaly, 40.8% of exomphalos, 18.5% of megacystis and 48.5% of those with <jats:styled-content style=\"fixed-case\">NT<\/jats:styled-content> \u2265\u20093.5\u2009mm. The most common chromosomal abnormality associated with holoprosencephaly was trisomy 13, with exomphalos and megacystis was trisomy 18 and with increased <jats:styled-content style=\"fixed-case\">NT<\/jats:styled-content> was trisomy 21. Fetal karyotyping of cases with major fetal defects or increased <jats:styled-content style=\"fixed-case\">NT<\/jats:styled-content> would potentially detect 57% of all chromosomal abnormalities at an invasive testing rate of 1.1%.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Major fetal defects and increased <jats:styled-content style=\"fixed-case\">NT<\/jats:styled-content> at 11\u201313\u2009weeks' gestation are associated with a high risk of chromosomal abnormalities and merit invasive fetal testing. Copyright \u00a9 2016 ISUOG. Published by John Wiley &amp; Sons Ltd.<\/jats:p><\/jats:sec>","DOI":"10.1002\/uog.17286","type":"journal-article","created":{"date-parts":[[2016,8,25]],"date-time":"2016-08-25T08:47:04Z","timestamp":1472114824000},"page":"45-48","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":49,"title":["Impact of holoprosencephaly, exomphalos, megacystis and increased nuchal translucency on first\u2010trimester screening for chromosomal abnormalities"],"prefix":"10.1002","volume":"50","author":[{"given":"A.","family":"Syngelaki","sequence":"first","affiliation":[{"name":"Harris Birthright Research Centre for Fetal Medicine Fetal Medicine Research Institute, King's College Hospital  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Guerra","sequence":"additional","affiliation":[{"name":"Harris Birthright Research Centre for Fetal Medicine Fetal Medicine Research Institute, King's College Hospital  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I.","family":"Ceccacci","sequence":"additional","affiliation":[{"name":"Harris Birthright Research Centre for Fetal Medicine Fetal Medicine Research Institute, King's College Hospital  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Efeturk","sequence":"additional","affiliation":[{"name":"Harris Birthright Research Centre for Fetal Medicine Fetal Medicine Research Institute, King's College Hospital  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K. H.","family":"Nicolaides","sequence":"additional","affiliation":[{"name":"Harris Birthright Research Centre for Fetal Medicine Fetal Medicine Research Institute, King's College Hospital  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,4,23]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.17283"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.14791"},{"key":"e_1_2_6_4_1","unstructured":"UK National Screening Committee. The UK NSC recommendation on Down's syndrome screening in pregnancy: last external review \u2013 cfDNA screening in pregnancy.https:\/\/legacyscreening.phe.org.uk\/downs[Accessed 26 March2017]."},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.2642"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/den224"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.7863\/jum.2004.23.6.761"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.81"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1159\/000358388"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.7646"}],"container-title":["Ultrasound in Obstetrics &amp; Gynecology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fuog.17286","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fuog.17286","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/uog.17286","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,24]],"date-time":"2023-09-24T13:02:55Z","timestamp":1695560575000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/uog.17286"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,4,23]]},"references-count":9,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2017,7]]}},"alternative-id":["10.1002\/uog.17286"],"URL":"https:\/\/doi.org\/10.1002\/uog.17286","archive":["Portico"],"relation":{},"ISSN":["0960-7692","1469-0705"],"issn-type":[{"value":"0960-7692","type":"print"},{"value":"1469-0705","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,4,23]]},"assertion":[{"value":"2016-08-01","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2016-08-15","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2017-04-23","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}