{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T05:38:11Z","timestamp":1791437891298,"version":"4.3.3"},"reference-count":44,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2021,7,10]],"date-time":"2021-07-10T00:00:00Z","timestamp":1625875200000},"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; Gyne"],"published-print":{"date-parts":[[2021,8]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>To expand the limited knowledge on cell\u2010free DNA (cfDNA) analysis of maternal blood for trisomies 21, 18 and 13 in twin pregnancy by updating the data from The Fetal Medicine Foundation (FMF) on prospective first\u2010trimester screening and those identified in a systematic review of the literature.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The FMF data were derived from prospective screening for trisomies 21, 18 and 13 in twin pregnancies at 10\u2009+\u20090 to 14\u2009+\u20091\u2009weeks' gestation using the Harmony\u00ae prenatal test. A 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 International Clinical Trials Registry Platform (World Health Organization) 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, irrespective of gestational age at testing, in which data on pregnancy outcome were provided for at least 85% of the study population. Meta\u2010analysis was performed using the FMF data and data from the studies identified by the literature search. This review was registered in the PROSPERO international database for systematic reviews<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In the FMF study, cfDNA testing was carried out in 1442 twin pregnancies and a result was obtained, after first or second sampling, in 1367 (94.8%) cases. In 93.1% (1272\/1367) of cases, there was prenatal or postnatal karyotyping or birth of phenotypically normal babies; 95 cases were excluded from further analysis either because the pregnancy ended in termination, miscarriage or stillbirth with no known karyotype (<jats:italic>n<\/jats:italic>\u2009=\u200956) or there was loss to follow\u2010up (<jats:italic>n<\/jats:italic>\u2009=\u200939). In the 1272 pregnancies included in the study, there were 20 cases with trisomy 21, 10 with trisomy 18, two with trisomy 13 and 1240 without trisomy 21, 18 or 13. The cfDNA test classified correctly 19 (95.0%) of the 20 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 1235 (99.6%) of the 1240 cases without any of the three trisomies. The literature search identified 12 relevant studies, excluding our papers because their data are included in the current study. In the combined populations of our study and the 12 studies identified by the literature search, there were 137 trisomy\u201021 and 7507 non\u2010trisomy\u201021 twin pregnancies; the pooled weighted detection rate (DR) and false\u2010positive rate (FPR) were 99.0% (95%\u2009CI, 92.0\u201399.9%) and 0.02% (95%\u2009CI, 0.001\u20130.43%), respectively. In the combined total of 50 cases of trisomy 18 and 6840 non\u2010trisomy\u201018 pregnancies, the pooled weighted DR and FPR were 92.8% (95%\u2009CI, 77.6\u201398.0%) and 0.01% (95%\u2009CI, 0.00\u20130.44%), respectively. In the combined total of 11 cases of trisomy 13 and 6290 non\u2010trisomy\u201013 pregnancies, the pooled weighted DR and FPR were 94.7% (95%\u2009CI, 9.14\u201399.97%) and 0.10% (95%\u2009CI, 0.03\u20130.39%), respectively.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>In twin pregnancy, the reported DR of trisomy 21 by cfDNA testing is high, but lower than that in singleton pregnancy, whereas the FPR appears to be equally low. The number of cases of trisomy 18 and more so trisomy 13 was too small for accurate assessment of the predictive performance of the cfDNA test. \u00a9 2021 International Society of Ultrasound in Obstetrics and Gynecology.<\/jats:p><\/jats:sec>","DOI":"10.1002\/uog.23648","type":"journal-article","created":{"date-parts":[[2021,4,10]],"date-time":"2021-04-10T16:29:45Z","timestamp":1618072185000},"page":"178-189","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":53,"title":["Cell\u2010free <scp>DNA<\/scp> testing of maternal blood in screening for trisomies in twin pregnancy: updated cohort study at 10\u201314\u2009weeks and meta\u2010analysis"],"prefix":"10.1002","volume":"58","author":[{"given":"H.","family":"Judah","sequence":"first","affiliation":[{"name":"Harris Birthright Research Centre of Fetal Medicine King's College Hospital  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9993-5249","authenticated-orcid":false,"given":"M. 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