{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T18:11:37Z","timestamp":1790878297917,"version":"4.1.0"},"reference-count":73,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2023,2,9]],"date-time":"2023-02-09T00:00:00Z","timestamp":1675900800000},"content-version":"vor","delay-in-days":8,"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":[[2023,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>We aimed to investigate how the presence of fetal anomalies and different X chromosome variants influences Cell\u2010free DNA (cfDNA) screening results for monosomy X.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>From a multicenter retrospective survey on 673 pregnancies with prenatally suspected or confirmed Turner syndrome, we analyzed the subgroup for which prenatal cfDNA screening and karyotype results were available. A cfDNA screening result was defined as true positive (TP) when confirmatory testing showed 45,X or an X\u2010chromosome variant.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We had cfDNA results, karyotype, and phenotype data for 55 pregnancies. cfDNA results were high risk for monosomy X in 48\/55, of which 23 were TP and 25 were false positive (FP). 32\/48 high\u2010risk cfDNA cases did not show fetal anomalies. Of these, 7 were TP. All were X\u2010chromosome variants. All 16 fetuses with high\u2010risk cfDNA result and ultrasound anomalies were TP. Of fetuses with abnormalities, those with 45,X more often had fetal hydrops\/cystic hygroma, whereas those with \u201cvariant\u201d karyotypes had different anomalies.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Both, 45,X or X\u2010chromosome variants can be detected after a high\u2010risk cfDNA result for monosomy X. When there are fetal anomalies, the result is more likely a TP. In the absence of fetal anomalies, it is most often an FP or X\u2010chromosome variant.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.6320","type":"journal-article","created":{"date-parts":[[2023,2,2]],"date-time":"2023-02-02T06:01:01Z","timestamp":1675317661000},"page":"192-206","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Multicenter clinical experience with non\u2010invasive cell\u2010free DNA screening for monosomy X and related X\u2010chromosome variants"],"prefix":"10.1002","volume":"43","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7688-5357","authenticated-orcid":false,"given":"Ivonne","family":"Bedei","sequence":"first","affiliation":[{"name":"Department of Prenatal Medicine and Fetal Therapy Justus\u2010Liebig University  Giessen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tascha","family":"Gehrke","sequence":"additional","affiliation":[{"name":"Department of Prenatal 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