{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T08:44:40Z","timestamp":1790671480714,"version":"4.1.0"},"reference-count":40,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2013,6,7]],"date-time":"2013-06-07T00:00:00Z","timestamp":1370563200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ultrasound in Obstet &amp;amp; Gyne"],"published-print":{"date-parts":[[2013,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p><jats:italic>To define risk cut\u2010offs with corresponding detection rates (<jats:styled-content style=\"fixed-case\">DR<\/jats:styled-content>) and false\u2010positive rates (<jats:styled-content style=\"fixed-case\">FPR<\/jats:styled-content>) in screening for trisomy 21 using maternal age and combinations of first\u2010trimester biomarkers in order to determine which women should undergo contingent maternal blood cell\u2010free (cf) <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> testing<\/jats:italic>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p><jats:italic>From singleton pregnancies undergoing screening for aneuploidies at three <jats:styled-content style=\"fixed-case\">UK<\/jats:styled-content> hospitals between March 2006 and May 2012, we analyzed prospectively collected data on the following biomarkers: fetal nuchal translucency thickness (<jats:styled-content style=\"fixed-case\">NT<\/jats:styled-content>) and ductus venosus pulsatility index for veins (<jats:styled-content style=\"fixed-case\">DV\u2010PIV<\/jats:styled-content>) at 11\u2009+\u20090 to 13\u2009+\u20096 weeks' gestation and serum free \u03b2\u2010human chorionic gonadotropin (\u03b2\u2010<jats:styled-content style=\"fixed-case\">hCG<\/jats:styled-content>), pregnancy\u2010associated plasma protein\u2010A (<jats:styled-content style=\"fixed-case\">PAPP<\/jats:styled-content>\u2010A), placental growth factor (<jats:styled-content style=\"fixed-case\">PlGF<\/jats:styled-content>) and alpha\u2010fetoprotein (<jats:styled-content style=\"fixed-case\">AFP<\/jats:styled-content>) at 8\u2009+\u20090 to 13\u2009+\u20096 weeks. Estimates of risk cut\u2010offs, <jats:styled-content style=\"fixed-case\">DRs<\/jats:styled-content> and <jats:styled-content style=\"fixed-case\">FPRs<\/jats:styled-content> were derived for combinations of biomarkers and these were used to define the best strategy for contingent cfDNA testing<\/jats:italic>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p><jats:italic>In contingent screening, detection of 98% of fetuses with trisomy 21 at an overall invasive testing rate &lt;\u20090.5% can be potentially achieved by offering <jats:styled-content style=\"fixed-case\">cfDNA<\/jats:styled-content> testing to about 36%, 21% and 11% of cases identified by first\u2010line screening using the combined test alone, using the combined test with the addition of serum <jats:styled-content style=\"fixed-case\">PlGF<\/jats:styled-content> and <jats:styled-content style=\"fixed-case\">AFP<\/jats:styled-content> and using the combined test with the addition of <jats:styled-content style=\"fixed-case\">PlGF<\/jats:styled-content>, <jats:styled-content style=\"fixed-case\">AFP<\/jats:styled-content> and <jats:styled-content style=\"fixed-case\">DV\u2010PIV<\/jats:styled-content>, respectively<\/jats:italic>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p><jats:italic>Effective first\u2010trimester screening for trisomy 21, with <jats:styled-content style=\"fixed-case\">DR<\/jats:styled-content> of 98% and invasive testing rate &lt;\u20090.5%, can be potentially achieved by contingent screening incorporating biomarkers and <jats:styled-content style=\"fixed-case\">cfDNA<\/jats:styled-content> testing. Copyright \u00a9 2013 ISUOG. Published by John Wiley &amp; Sons Ltd<\/jats:italic>.<\/jats:p><\/jats:sec>","DOI":"10.1002\/uog.12511","type":"journal-article","created":{"date-parts":[[2013,6,7]],"date-time":"2013-06-07T07:02:48Z","timestamp":1370588568000},"page":"41-50","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":99,"title":["First\u2010trimester contingent screening for trisomy 21 by biomarkers and maternal blood cell\u2010free <scp>DNA<\/scp> testing"],"prefix":"10.1002","volume":"42","author":[{"given":"K. H.","family":"Nicolaides","sequence":"first","affiliation":[{"name":"Harris Birthright Research Centre for Fetal Medicine King's College Hospital London UK"},{"name":"Department of Fetal Medicine University College Hospital London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Wright","sequence":"additional","affiliation":[{"name":"Centre for Medical Statistics and Bioinformatics University of Plymouth Plymouth UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L. C.","family":"Poon","sequence":"additional","affiliation":[{"name":"Harris Birthright Research Centre for Fetal Medicine King's College Hospital London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Syngelaki","sequence":"additional","affiliation":[{"name":"Harris Birthright Research Centre for Fetal Medicine King's College Hospital London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. M.","family":"Gil","sequence":"additional","affiliation":[{"name":"Harris Birthright Research Centre for Fetal Medicine King's College Hospital London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,6,7]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.c7401"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2011.165910"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2010.12.060"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3182368a0e"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1097\/AOG.0b013e31824fb482"},{"issue":"319","key":"e_1_2_6_7_1","first-page":"e1","article-title":"Noninvasive prenatal detection and selective analysis of cell\u2010free DNA obtained from maternal blood: evaluation for trisomy 21 and trisomy 18","volume":"206","author":"Sparks AB","year":"2012","journal-title":"Am J Obstet Gynecol"},{"issue":"322","key":"e_1_2_6_8_1","first-page":"e1","article-title":"Chromosome\u2010selective sequencing of maternal plasma cell\u2010free DNA for first\u2010trimester detection of trisomy 21 and trisomy 18","volume":"206","author":"Ashoor G","year":"2012","journal-title":"Am J Obstet Gynecol"},{"issue":"137","key":"e_1_2_6_9_1","first-page":"e1","article-title":"Non\u2010invasive chromosomal evaluation (NICE) study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18","volume":"207","author":"Norton ME","year":"2012","journal-title":"Am J Obstet Gynecol"},{"issue":"374","key":"e_1_2_6_10_1","first-page":"e1","article-title":"Noninvasive prenatal testing for fetal trisomies in a routinely screened first\u2010trimester population","volume":"207","author":"Nicolaides KH","year":"2012","journal-title":"Am J Obstet Gynecol"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.3109\/14767058.2011.635730"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.3993"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4103"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4130"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.2637"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.2685"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1159\/000337322"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1159\/000314036"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1159\/000335684"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.6244"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1159\/000341264"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1159\/000341712"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1159\/000330198"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1159\/000324352"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-0528.1975.tb00710.x"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.5282"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/den224"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.7755"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.5299"},{"key":"e_1_2_6_30_1","first-page":"89","article-title":"Estimating birth prevalence of Down's syndrome","volume":"5","author":"Wright DE","year":"2000","journal-title":"J Epidemiol Biostat"},{"key":"e_1_2_6_31_1","unstructured":"http:\/\/www.ons.gov.uk\/ons\/publications\/re\u2010reference\u2010tables.html?edition\u2009=\u2009tcm%3A77\u2010241261"},{"key":"e_1_2_6_32_1","unstructured":"R Development Core Team(2011).R: A language and environment for statistical computing.R Foundation for Statistical Computing Vienna Austria.http: \/\/www.R\u2010project.org\/."},{"key":"e_1_2_6_33_1","article-title":"Implementation of maternal blood cell\u2010free DNA testing in early screening for aneuploidies","author":"Quezada MS","year":"2013","journal-title":"Ultrasound Obstet Gynecol"},{"key":"e_1_2_6_34_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(97)11280-6"},{"key":"e_1_2_6_35_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.38730.655197.AE"},{"key":"e_1_2_6_36_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2005.02.134"},{"key":"e_1_2_6_37_1","doi-asserted-by":"publisher","DOI":"10.3310\/hta14330"},{"key":"e_1_2_6_38_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4087"},{"key":"e_1_2_6_39_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.11095"},{"key":"e_1_2_6_40_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2004.12.093"},{"key":"e_1_2_6_41_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.2642"}],"container-title":["Ultrasound in Obstetrics &amp; Gynecology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fuog.12511","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/uog.12511","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,3]],"date-time":"2023-10-03T21:11:52Z","timestamp":1696367512000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/uog.12511"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,6,7]]},"references-count":40,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2013,7]]}},"alternative-id":["10.1002\/uog.12511"],"URL":"https:\/\/doi.org\/10.1002\/uog.12511","archive":["Portico"],"relation":{},"ISSN":["0960-7692","1469-0705"],"issn-type":[{"value":"0960-7692","type":"print"},{"value":"1469-0705","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,6,7]]},"assertion":[{"value":"2013-05-09","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2013-06-07","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}