{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T13:04:33Z","timestamp":1791983073937,"version":"4.4.0"},"reference-count":29,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2019,6,4]],"date-time":"2019-06-04T00:00:00Z","timestamp":1559606400000},"content-version":"vor","delay-in-days":3,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003123","name":"Fetal Medicine Foundation","doi-asserted-by":"publisher","award":["UK Charity No: 1037116"],"award-info":[{"award-number":["UK Charity No: 1037116"]}],"id":[{"id":"10.13039\/501100003123","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ultrasound in Obstet &amp;amp; Gyne"],"published-print":{"date-parts":[[2019,6]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Objectives<\/jats:title><jats:p>To report on the routine clinical implementation of cell\u2010free DNA (cfDNA) analysis of maternal blood for trisomies 21, 18 and 13 in twin pregnancy and to define the performance of the test by combining our results with those identified in a systematic review of the literature.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The data for the prospective study were derived from screening for trisomies 21, 18 and 13 in twin pregnancies at 10\u2009+\u20090 to 14\u2009+\u20091\u2009weeks' gestation. Two populations were included; first, self\u2010referred women to the Fetal Medicine Centre in London or Brugmann University Hospital in Brussels and, second, women selected for the cfDNA test after routine first\u2010trimester combined testing at one of two National Health Service hospitals in England. This dataset was used to determine the performance of screening for the three trisomies. Search of MEDLINE, EMBASE, CENTRAL (The Cochrane Library), \n<jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"http:\/\/clinicaltrials.gov\">ClinicalTrials.gov<\/jats:ext-link> and the World Health Organization International Clinical Trials Registry Platform (ICTRP) was carried out to identify all peer\u2010reviewed publications on clinical validation or implementation of maternal cfDNA testing for trisomies 21, 18 and 13 in twin pregnancy. A meta\u2010analysis was then performed using our data and those in the studies identified by the literature search.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In our dataset of 997 twin pregnancies with a cfDNA result and known outcome, the test classified correctly 16 (94.1%) of the 17 cases of trisomy 21, nine (90.0%) of the 10 cases of trisomy 18, one (50.0%) of the two cases of trisomy 13 and 962 (99.4%) of the 968 cases without any of the three trisomies. The literature search identified seven relevant studies, excluding our previous papers because their data are included in the current study. In the combined populations of our study and the seven studies identified by the literature search, there were 56 trisomy\u201021 and 3718 non\u2010trisomy\u201021 twin pregnancies; the pooled weighted detection rate (DR) and false\u2010positive rate (FPR) were 98.2% (95% CI, 83.2\u201399.8%) and 0.05% (95% CI, 0.01\u20130.26%), respectively. In the combined total of 18 cases of trisomy 18 and 3143 non\u2010trisomy\u201018 pregnancies, the pooled weighted DR and FPR were 88.9% (95% CI, 64.8\u201397.2%) and 0.03% (95% CI, 0.00\u20130.33%), respectively. For trisomy 13, there were only three affected cases and two (66.7%) of these were detected by the cfDNA test at a FPR of 0.19% (5\/2569).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The performance of cfDNA testing for trisomy 21 in twin pregnancy is similar to that reported in singleton pregnancy and is superior to that of the first\u2010trimester combined test or second\u2010trimester biochemical testing. The number of cases of trisomies 18 and 13 is too small for accurate assessment of the predictive performance of the cfDNA test. Copyright \u00a9 2019 ISUOG. Published by John Wiley &amp; Sons Ltd.<\/jats:p><\/jats:sec>","DOI":"10.1002\/uog.20284","type":"journal-article","created":{"date-parts":[[2019,6,5]],"date-time":"2019-06-05T05:01:05Z","timestamp":1559710865000},"page":"734-742","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":133,"title":["Screening for trisomies by cfDNA testing of maternal blood in twin pregnancy: update of The Fetal Medicine Foundation results and meta\u2010analysis"],"prefix":"10.1002","volume":"53","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9993-5249","authenticated-orcid":false,"given":"M. M.","family":"Gil","sequence":"first","affiliation":[{"name":"Fetal Medicine Research Institute King's College Hospital  London UK"},{"name":"Obstetrics and Gynecology Department Hospital Universitario de Torrej\u00f3n, Torrej\u00f3n de Ardoz  Madrid Spain"},{"name":"School of Health Sciences, Universidad Francisco de Vitoria Pozuelo de Alarc\u00f3n  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Galeva","sequence":"additional","affiliation":[{"name":"Fetal Medicine Research Institute King's College Hospital  London UK"},{"name":"Department of Fetal Medicine Medway Maritime Hospital  Gillingham UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2252-342X","authenticated-orcid":false,"given":"J.","family":"Jani","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology University Hospital Brugmann, Universit\u00e9 Libre de Bruxelles  Brussels Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Konstantinidou","sequence":"additional","affiliation":[{"name":"Fetal Medicine Research Institute King's College Hospital  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7265-5442","authenticated-orcid":false,"given":"R.","family":"Akolekar","sequence":"additional","affiliation":[{"name":"Department of Fetal Medicine Medway Maritime Hospital  Gillingham UK"},{"name":"Institute of Medical Sciences Canterbury Christ Church University  Chatham UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0921-7954","authenticated-orcid":false,"given":"M. N.","family":"Plana","sequence":"additional","affiliation":[{"name":"Department of Preventive Medicine and Public Health Hospital Pr\u00edncipe de Asturias, Alcal\u00e1 de Henares  Madrid Spain"},{"name":"CIBER Epidemiology and Public Health (CIBERESP)  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K. 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