{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T11:03:57Z","timestamp":1790420637152,"version":"4.1.0"},"reference-count":34,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2020,9,2]],"date-time":"2020-09-02T00:00:00Z","timestamp":1599004800000},"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":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2021,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>To examine the positive predictive value (PPV) of cfDNA screening for sex chromosome aneuploidies (SCA) in a large series of over 90\u2009000 patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Retrospective study based on samples that were sent to Cenata, a private laboratory which uses the Harmony Prenatal Test. The SCA high\u2010risk results were stratified according to the method of diagnostic testing and according to karyotype result.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The study population consisted of 144 cases. The CfDNA test indicated monosomy X, XXX, XXY, and XYY in 62, 37, 40, and 5 cases, respectively. The overall PPV was 38.9% (30.9\u201047.4), 29.0% (18.2\u201042.9) for monosomy X, 29.7% (15.9\u201047.9) for 47,XXX, 57.5% (40.9\u201073.0) for 47,XXY, and 80.0% (28.4\u201099.5) for 47,XYY). A total of 112 (77.8%) women with a high\u2010risk result for SCAs opted for prenatal karyotyping. In this group, there were significant differences in the PPV if the karyotype was assessed by amniocentesis or by CVS: 29.5% vs 50.0%. This significant difference was driven by the monosomy X result which shows a significantly higher PPV in CVS (54.6% (23.4\u201083.3) vs 17.1% (6.6\u201033.6)). For the other SCAs, the differences were not significant.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>PPV of an abnormal cfDNA test for SCAs is low, particularly for monosomy X. The confirmation rate depends on the type of confirmatory test.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.5814","type":"journal-article","created":{"date-parts":[[2020,8,28]],"date-time":"2020-08-28T11:03:35Z","timestamp":1598612615000},"page":"1258-1263","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":39,"title":["Confirmation rate of cell free <scp>DNA<\/scp> screening for sex chromosomal abnormalities according to the method of confirmatory testing"],"prefix":"10.1002","volume":"41","author":[{"given":"Kai","family":"L\u00fcthgens","sequence":"first","affiliation":[{"name":"Cenata GmbH  T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3836-5190","authenticated-orcid":false,"given":"Francesca Romana","family":"Grati","sequence":"additional","affiliation":[{"name":"Research and Development, Cytogenetics and Medical Genetics Unit TOMA Advanced Biomedical 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