{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T22:21:34Z","timestamp":1790634094828,"version":"4.1.0"},"reference-count":31,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2015,10,26]],"date-time":"2015-10-26T00:00:00Z","timestamp":1445817600000},"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 & Gyne"],"published-print":{"date-parts":[[2016,1]]},"abstract":"ABSTRACT<\/jats:title>\n \n Objectives<\/jats:title>\n \n Cell\u2010free\n DNA<\/jats:styled-content>\n (\n cfDNA<\/jats:styled-content>\n ) analysis of maternal blood for detection of trisomies 21, 18 and 13 is superior to other methods of screening but is expensive. One strategy to maximize performance at reduced cost is to offer\n cfDNA<\/jats:styled-content>\n testing contingent on the results of the first\u2010trimester combined test that is used currently. The objectives of this study were to report the feasibility of implementing such screening, to examine the factors affecting patient decisions concerning their options for screening and decisions on the management of affected pregnancies and to report the prenatal diagnosis of fetal trisomies and outcome of affected pregnancies following the introduction of contingent screening.\n <\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n \n We examined routine clinical implementation of contingent screening in 11\u2009692 singleton pregnancies in two National Health Service (NHS) hospitals in the\n UK<\/jats:styled-content>\n . Women with a risk \u2265\u20091 in 100 (high\u2010risk group) were offered options of invasive testing,\n cfDNA<\/jats:styled-content>\n testing or no further testing, and those with a risk between 1 in 101 and 1 in 2500 (intermediate\u2010risk group) were offered\n cfDNA<\/jats:styled-content>\n testing or no further testing. The trisomic status of the pregnancies was determined by prenatal or postnatal karyotyping or by examination of the neonates.\n <\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n In the study population of 11\u2009692 pregnancies, there were 47 cases of trisomy 21 and 28 of trisomies 18 or 13. Screening with the combined test followed by invasive testing for all patients in the high\u2010risk group potentially could have detected 87% of trisomy 21 and 93% of trisomies 18 or 13, at a false\u2010positive rate of 3.4%; the respective values for\n cfDNA<\/jats:styled-content>\n testing in the high\u2010 and intermediate\u2010risk groups were 98%, 82% and 0.25%. However, in the high\u2010risk group, 38% of women chose invasive testing and 60% chose\n cfDNA<\/jats:styled-content>\n testing; in the intermediate\u2010risk group 92% opted for\n cfDNA<\/jats:styled-content>\n testing. A prenatal diagnosis was made in 43 (91.5%) pregnancies with trisomy 21 and all pregnancies with trisomies 18 or 13. In many affected pregnancies the parents chose to avoid testing or termination and 32% of pregnancies with trisomy 21 resulted in live births.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusions<\/jats:title>\n Screening for fetal trisomies by cfDNA analysis of maternal blood, contingent on the results of the combined test, can be implemented easily in routine clinical practice. In the high\u2010risk group from the combined test, most but not all women chose cfDNA testing rather than invasive testing. Performance of screening for trisomy 21 was superior by the cfDNA test than by the combined test. However, prenatal detection of trisomies and pregnancy outcome depend not only on performance of screening tests but also on parental choice. Copyright \u00a9 2015 ISUOG. Published by John Wiley & Sons Ltd.<\/jats:p>\n <\/jats:sec>","DOI":"10.1002\/uog.15783","type":"journal-article","created":{"date-parts":[[2015,10,26]],"date-time":"2015-10-26T01:44:52Z","timestamp":1445823892000},"page":"45-52","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":115,"title":["Clinical implementation of routine screening for fetal trisomies in the\n UK<\/scp>\n NHS<\/scp>\n : cell\u2010free\n DNA<\/scp>\n test contingent on results from first\u2010trimester combined test"],"prefix":"10.1002","volume":"47","author":[{"given":"M. M.","family":"Gil","sequence":"first","affiliation":[{"name":"Harris Birthright Research Centre for Fetal Medicine King's College Hospital London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Revello","sequence":"additional","affiliation":[{"name":"Harris Birthright Research Centre for Fetal Medicine King's College Hospital London 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":"R.","family":"Akolekar","sequence":"additional","affiliation":[{"name":"Harris Birthright Research Centre for Fetal Medicine King's College Hospital London UK"},{"name":"Department of Fetal Medicine Medway Maritime Hospital Gillingham Kent UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K. H.","family":"Nicolaides","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":[[2015,10,26]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.2637"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1159\/000357430"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.14791"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2012.08.033"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.12504"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.14664"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.12511"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1159\/000356066"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.14694"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2012.01.030"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2012.01.029"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.12299"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.14683"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1159\/000264259"},{"key":"e_1_2_6_16_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_17_1","unstructured":"Office for National Statistics.Live Births in England and Wales by Characteristics of Mother 1 2013.http:\/\/www.ons.gov.uk\/ons\/publications\/re-reference-tables.html?edition=tcm%3A77-327586[Accessed 28 September 2015]."},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4157"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.3109\/14767058.2013.770464"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.14693"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/0029-7844(96)00017-8"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1311037"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1407349"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4160"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.683"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2005.02.134"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1321"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.GIM.0000162875.36352.A9"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.2509"},{"key":"e_1_2_6_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4067"},{"key":"e_1_2_6_31_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4125"},{"key":"e_1_2_6_32_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.2910"}],"container-title":["Ultrasound in Obstetrics & Gynecology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fuog.15783","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fuog.15783","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/uog.15783","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,3]],"date-time":"2023-10-03T13:28:18Z","timestamp":1696339698000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/uog.15783"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,10,26]]},"references-count":31,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2016,1]]}},"alternative-id":["10.1002\/uog.15783"],"URL":"https:\/\/doi.org\/10.1002\/uog.15783","archive":["Portico"],"relation":{},"ISSN":["0960-7692","1469-0705"],"issn-type":[{"value":"0960-7692","type":"print"},{"value":"1469-0705","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,10,26]]},"assertion":[{"value":"2015-10-06","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2015-10-26","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}