{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,20]],"date-time":"2026-02-20T00:46:07Z","timestamp":1771548367796,"version":"3.50.1"},"reference-count":26,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2024,3,6]],"date-time":"2024-03-06T00:00:00Z","timestamp":1709683200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2024,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>In singleton pregnancies, the use of cell\u2010free DNA (cfDNA) analysis as a screening test for common fetal trisomies has spread worldwide though we still lack sufficient data for its use in triplet pregnancies. The objective of this study is to assess the performance of cfDNA testing in detecting fetal aneuploidies in triplet pregnancies as a first\u2010tier test.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>We performed a retrospective cohort study including data from pregnant women with a triplet pregnancy who underwent cfDNA testing between May 1, 2017, and January 15, 2020. cfDNA was obtained by massive parallel sequencing (VeriSeq NIPT solution; Illumina\u00ae). The objectives of the study were to assess the diagnostic performance of cfDNA testing for trisomy 21 (T21) (primary outcome), trisomy 18 (T18) and 13 (secondary outcomes).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>During the study period, cfDNA testing was performed in 255 women with triplet pregnancy, of which 165 (64.7%) had a neonatal outcome available. Three tests were positive for T21, one of which was confirmed by an antenatal karyotype, and the other was confirmed at birth. The third case did not undergo an invasive procedure and was not confirmed at birth (false positive). In one case, cfDNA testing was positive for T18 and was confirmed by an antenatal karyotype. There were no cases of trisomy 13 in the cohort. The no\u2010call rate was 2.4% at first sampling. Fifty\u2010eight (22.7%) women had embryo reduction, which in 40 (69%) of whom was performed after the cfDNA test result.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>cfDNA testing could be offered as primary screening for main fetal aneuploidies in triplet pregnancies after provision of appropriate patient information.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.6548","type":"journal-article","created":{"date-parts":[[2024,3,7]],"date-time":"2024-03-07T01:19:30Z","timestamp":1709774370000},"page":"555-561","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Performance of cell\u2010free DNA testing for common fetal trisomies in triplet pregnancies"],"prefix":"10.1002","volume":"44","author":[{"given":"Hoda","family":"Zakaria","sequence":"first","affiliation":[{"name":"Division of Obstetrics and Gynecology \"Antoine B\u00e9cl\u00e8re\" Hospital Paris Saclay University APHP  Clamart France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pascale","family":"Kleinfinger","sequence":"additional","affiliation":[{"name":"Laboratoire Cerba  Saint\u2010Ouen l\u2019Aum\u00f4ne France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laurence","family":"Lohmann","sequence":"additional","affiliation":[{"name":"Laboratoire Cerba  Saint\u2010Ouen l\u2019Aum\u00f4ne France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean\u2010Marc","family":"Costa","sequence":"additional","affiliation":[{"name":"Laboratoire Cerba  Saint\u2010Ouen l\u2019Aum\u00f4ne France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vassilis","family":"Tsatsaris","sequence":"additional","affiliation":[{"name":"Division of Obstetrics and Gynecology \"Port Royal\" Hospital Paris Cit\u00e9 University APHP  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0627-4347","authenticated-orcid":false,"given":"Laurent J.","family":"Salomon","sequence":"additional","affiliation":[{"name":"Division of Obstetrics and Gynecology \"Necker\u2014Enfants Malades\" Hospital Paris Cit\u00e9 University APHP  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7890-3790","authenticated-orcid":false,"given":"Jean\u2010Marie","family":"Jouannic","sequence":"additional","affiliation":[{"name":"Division of Fetal Medicine \"Armand Trousseau\" Hospital Sorbonne Paris Nord University APHP  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8877-0381","authenticated-orcid":false,"given":"Jonathan","family":"Rosenblatt","sequence":"additional","affiliation":[{"name":"Division of Obstetrics and Gynecology \"Robert Debr\u00e9\" Hospital Sorbonne Paris Nord University APHP  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ad\u00e8le","family":"Demain","sequence":"additional","affiliation":[{"name":"Division of Obstetrics and Gynecology \"Antoine B\u00e9cl\u00e8re\" Hospital Paris Saclay University APHP  Clamart France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6045-0765","authenticated-orcid":false,"given":"Alexandra","family":"Benachi","sequence":"additional","affiliation":[{"name":"Division of Obstetrics and Gynecology \"Antoine B\u00e9cl\u00e8re\" Hospital Paris Saclay University APHP  Clamart France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"La\u00efla","family":"El Khattabi","sequence":"additional","affiliation":[{"name":"Non\u2010Invasive Prenatal Screening laboratory APHP Paris Cit\u00e9 University H\u00f4pital Cochin  Paris France"},{"name":"Chromosomal Genomics Unit Medical Genetics Department APHP Sorbonne Paris Nord University Armand Trousseau and Piti\u00e9\u2010Salp\u00eatri\u00e8re Hospitals  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexandre J.","family":"Vivanti","sequence":"additional","affiliation":[{"name":"Division of Obstetrics and Gynecology \"Antoine B\u00e9cl\u00e8re\" Hospital Paris Saclay University APHP  Clamart 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Autorit\u00e9 de Sant\u00e9 [Internet].Place des tests ADN libre circulant dans le sang maternel dans le d\u00e9pistage de la trisomie 21 foetale. 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Disponible sur:.https:\/\/www.has\u2010sante.fr\/jcms\/c_2768510\/en\/place\u2010des\u2010tests\u2010adn\u2010libre\u2010circulant\u2010dans\u2010le\u2010sang\u2010maternel\u2010dans\u2010le\u2010depistage\u2010de\u2010la\u2010trisomie\u201021\u2010foetale"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1097\/aog.0000000000004385"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0220979"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.3390\/jcm11071937"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.285"},{"key":"e_1_2_10_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.19004"},{"key":"e_1_2_10_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5049"},{"key":"e_1_2_10_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2014.10.012"},{"key":"e_1_2_10_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5898"},{"key":"e_1_2_10_27_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes13112027"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.6548","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,5,6]],"date-time":"2024-05-06T19:57:58Z","timestamp":1715025478000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.6548"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,3,6]]},"references-count":26,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2024,5]]}},"alternative-id":["10.1002\/pd.6548"],"URL":"https:\/\/doi.org\/10.1002\/pd.6548","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,3,6]]},"assertion":[{"value":"2024-01-06","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-02-19","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-03-06","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}