{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,23]],"date-time":"2026-04-23T06:49:37Z","timestamp":1776926977228,"version":"3.51.2"},"reference-count":24,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2018,12,7]],"date-time":"2018-12-07T00:00:00Z","timestamp":1544140800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003123","name":"Fetal Medicine Foundation","doi-asserted-by":"publisher","award":["1037116"],"award-info":[{"award-number":["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":[[2019,2]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Objective<\/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, contingent on the results of the first\u2010trimester combined test in twin pregnancy.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Screening for trisomies 21, 18 and 13 was carried  out in 959 twin pregnancies by assessment of a combination of maternal age, fetal nuchal translucency thickness, and serum free \u03b2\u2010human chorionic gonadotropin and pregnancy\u2010associated plasma protein\u2010A at 11\u201313\u2009weeks' gestation  in two UK NHS hospitals. Women in the high\u2010risk group (risk \u2265\u20091 in 100) were offered the option of invasive testing, cfDNA testing or no further testing, and those in the intermediate\u2010risk group (risk 1 in 101 to 1 in 2500 in the first phase of the study and 1 in 101 to 1 in 500 in the second phase) were offered cfDNA or no further testing. The trisomic status of the pregnancies was determined by prenatal or postnatal karyotyping or examination of the neonates.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In 42 (4.4%) of the 959 pregnancies, there was termination, miscarriage or stillbirth with no known karyotype or there was loss to follow\u2010up. The 917 pregnancies with known trisomic status of both twins included six that were discordant for trisomy 21, four that were discordant for trisomy 18 and 907 with no trisomy 21, 18 or 13. Following combined screening, 47 (5.1%), 203 (22.1%) and 667 (72.7%) of the pregnancies were classified as high risk, intermediate risk and low risk, respectively. The high\u2010risk group included five (83.3%) cases of trisomy 21 and three (75.0%) of trisomy 18. The cfDNA test was carried out in 224 pregnancies and results were provided in 214 (95.5%); this group included six pregnancies with trisomy 21, three with trisomy 18 and 206 with no trisomy 21, 18 or 13. The cfDNA test classified correctly as screen positive all six cases of trisomy 21 and two of the three with trisomy 18, and as screen negative for each of the trisomies all 206 unaffected pregnancies. Contingent screening led to prenatal detection of all cases of trisomy 21 and three of four with trisomy 18.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This study has demonstrated the feasibility of introducing cfDNA testing, contingent on the results of the first\u2010trimester combined test for major trisomies, in a routine population of twin pregnancies. Copyright \u00a9 2018 ISUOG. Published by John Wiley &amp; Sons Ltd.<\/jats:p><\/jats:sec>","DOI":"10.1002\/uog.20160","type":"journal-article","created":{"date-parts":[[2018,10,24]],"date-time":"2018-10-24T10:21:35Z","timestamp":1540376495000},"page":"208-213","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":28,"title":["Routine first\u2010trimester screening for fetal trisomies in twin pregnancy: cell\u2010free DNA test contingent on results from combined test"],"prefix":"10.1002","volume":"53","author":[{"given":"S.","family":"Galeva","sequence":"first","affiliation":[{"name":"Harris Birthright Research Centre for Fetal Medicine King's College Hospital  London UK"},{"name":"Department of Fetal Medicine Medway Maritime Hospital  Gillingham UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Konstantinidou","sequence":"additional","affiliation":[{"name":"Harris Birthright Research Centre for Fetal Medicine King's College Hospital  London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9993-5249","authenticated-orcid":false,"given":"M. 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