{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,23]],"date-time":"2026-08-23T14:15:54Z","timestamp":1787494554771,"version":"build-2736575974"},"reference-count":17,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2025,4,11]],"date-time":"2025-04-11T00:00:00Z","timestamp":1744329600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000871","name":"Mayo Clinic","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000871","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2025,5]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>Although fetal sex chromosome complement prediction by prenatal cell\u2010free DNA (cfDNA) screening is highly accurate, discordance between the cfDNA\u2010inferred chromosomal sex and phenotypic sex observed via ultrasonography or at birth, that is, \u201cfetal sex discordance\u201d, does rarely occur. Such discordance may be caused by differences in sex development (DSD) or technical or biological artifacts. This study aims to provide insights into the proportion of fetal sex discordance cases caused by DSD versus non\u2010DSD artifacts.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Method<\/jats:title>\n                    <jats:p>We retrospectively reviewed 122,748 cases that underwent diagnostic testing at the Mayo Clinic Cytogenetics Laboratory between 2015 and 2023. Thirty\u2010three singleton\u2010gestation cases tested for fetal sex discordances were identified.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Fetal sex discordance was attributed to non\u2010DSD artifacts in 24 (73%) of the 33 patients. In these cases, the phenotypic sex matched the chromosomal sex revealed by diagnostic cytogenetic testing. The remaining 9 patients included one with mosaic 46,X,psu idic(Y)(q11.21)\/45,X, 5 with 46,XY DSD, and 3 with 46,XX DSD.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>The majority of fetal sex discordance cases are caused by non\u2010DSD artifacts rather than DSD. Accurate clinical counseling of fetal sex discordance requires distinguishing between DSD and non\u2010DSD causes, emphasizing the need for diagnostic cytogenetic testing.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/pd.6793","type":"journal-article","created":{"date-parts":[[2025,4,11]],"date-time":"2025-04-11T14:43:51Z","timestamp":1744382631000},"page":"602-607","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Artifacts, Not Differences in Sex Development, Are the Predominant Cause of Phenotypic Sex Discordance With Prenatal Cell\u2010Free DNA Screening: A Review of 33 Cases"],"prefix":"10.1002","volume":"45","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1771-2891","authenticated-orcid":false,"given":"Qiliang","family":"Ding","sequence":"first","affiliation":[{"name":"Division of Laboratory Genetics and Genomics Department of Laboratory Medicine and Pathology Mayo Clinic  Rochester Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicole L.","family":"Hoppman","sequence":"additional","affiliation":[{"name":"Division of Laboratory Genetics and Genomics Department of Laboratory Medicine and Pathology Mayo Clinic  Rochester Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erik C.","family":"Thorland","sequence":"additional","affiliation":[{"name":"Division of Laboratory Genetics and Genomics Department of Laboratory Medicine and Pathology Mayo Clinic  Rochester Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cherisse A.","family":"Marcou","sequence":"additional","affiliation":[{"name":"Division of Laboratory Genetics and Genomics Department of Laboratory Medicine and Pathology Mayo Clinic  Rochester Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicole J.","family":"Boczek","sequence":"additional","affiliation":[{"name":"Division of Laboratory Genetics and Genomics Department of Laboratory Medicine and Pathology Mayo Clinic  Rochester Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hutton M.","family":"Kearney","sequence":"additional","affiliation":[{"name":"Division of Laboratory Genetics and Genomics Department of Laboratory Medicine and Pathology Mayo Clinic  Rochester Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natasha T.","family":"Strande","sequence":"additional","affiliation":[{"name":"Division of Laboratory Genetics and Genomics Department of Laboratory Medicine and Pathology Mayo Clinic  Rochester Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ross A.","family":"Rowsey","sequence":"additional","affiliation":[{"name":"Division of Laboratory Genetics and Genomics Department of Laboratory Medicine and Pathology Mayo Clinic  Rochester Minnesota 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