{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T11:04:09Z","timestamp":1790420649592,"version":"4.1.0"},"reference-count":66,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2025,3,5]],"date-time":"2025-03-05T00:00:00Z","timestamp":1741132800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100009708","name":"Novo Nordisk Fonden","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100009708","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt C"],"published-print":{"date-parts":[[2025,6]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>Turner Syndrome (TS) is a sex chromosomal disorder associated with karyotype heterogeneity. Although TS can be associated with severe prenatal findings, most often linked to the 45, X karyotype, the majority of TS fetuses have no overt phenotype, resulting in delayed diagnosis and management. The objective of this study is to assess the efficacy of non\u2010invasive prenatal testing by cell\u2010free DNA (cfNIPT) in detecting TS fetuses with different TS karyotype variants and to examine the phenotypic variations and clinical outcomes.Data on pregnancies with confirmed or suspected TS from 2000 to 2024 were collected from specialists in fetal ultrasound in Germany. In addition, a small number of Danish cases with 45, X mosaicism in the placenta was included. Data were collected regarding cfNIPT results, karyotypes, prenatal ultrasound findings, and pregnancy outcomes.Of the 114 cases included, 100 (87.7%) had a high\u2010risk cfNIPT result for monosomy X, 53 (46.5%) were true positives (TP), and 47 (41.2%) were false positives (FP). Fourteen (12.3%) were false negatives (FN). No differences in congenital malformation or nuchal translucency were seen between TP and FN. Data on karyotype were available for 67 cases. Fourty (59.7%) had a 45, X karyotype, 16 (23.9%) 45, X mosaicism, and 11 (16.4%) had a structural variant. The 45, X karyotype was associated with a higher prevalence of congenital malformation and increased nuchal translucency (ps \u2264\u20090.001). The live birth rate was higher in cases with 45, X mosaicism or structural variants compared to cases with a 45, X karyotype (ps \u2264\u20090.03). Postnatal phenotypes were often mild.cfNIPT represents a valuable tool for the early identification of fetuses with TS karyotype variants, enabling timely intervention and targeted management. However, the high false\u2010positive rate underscores the need for careful counseling.<\/jats:p>","DOI":"10.1002\/ajmg.c.32136","type":"journal-article","created":{"date-parts":[[2025,3,11]],"date-time":"2025-03-11T22:45:51Z","timestamp":1741733151000},"page":"124-133","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Non\u2010Invasive Prenatal Testing by Cell\u2010Free\n                    <scp>DNA<\/scp>\n                    (\n                    <scp>cfNIPT<\/scp>\n                    ) for Detecting Turner Syndrome With Mosaicism and Structural Variants\u2014Prenatal Findings and Postnatal Outcomes"],"prefix":"10.1002","volume":"199","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7688-5357","authenticated-orcid":false,"given":"Ivonne","family":"Bedei","sequence":"first","affiliation":[{"name":"Department of Prenatal Diagnosis and Fetal Therapy Justus\u2010Liebig University  Gie\u00dfen Germany"},{"name":"Department of Molecular Medicine Aarhus University Hospital  Aarhus Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johanna","family":"Bruder","sequence":"additional","affiliation":[{"name":"Department of Prenatal Diagnosis and Fetal Therapy Justus\u2010Liebig University  Gie\u00dfen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5480-220X","authenticated-orcid":false,"given":"Ida C. B.","family":"Lund","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Aarhus University Hospital  Aarhus Denmark"},{"name":"Department of Biomedicine Aarhus University  Aarhus Denmark"},{"name":"Department of Clinical Medicine, Center for Fetal Diagnostics Aarhus University  Aarhus Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5523-8954","authenticated-orcid":false,"given":"Simon H.","family":"Thomsen","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Aarhus University Hospital  Aarhus Denmark"},{"name":"Department of Clinical Medicine, Center for Fetal Diagnostics Aarhus University  Aarhus Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1125-0393","authenticated-orcid":false,"given":"Ida","family":"Vogel","sequence":"additional","affiliation":[{"name":"Department of Clinical Medicine, Center for Fetal Diagnostics Aarhus University  Aarhus Denmark"},{"name":"Department of Obstetrics and Gynecology Aarhus University Hospital  Aarhus Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4850-8079","authenticated-orcid":false,"given":"Andrea T.","family":"Maciel\u2010Guerra","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Genomic Medicine School of Medical Science State University of Campinas  S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4673-3643","authenticated-orcid":false,"given":"Francisco","family":"Alvarez\u2010Nava","sequence":"additional","affiliation":[{"name":"Facultad de Ciencias Biol\u00f3gicas Universidad Central del Ecuador  Quito Ecuador"},{"name":"Instituto de Investigaciones Gen\u00e9ticas de la Universidad del Zulia  Maracaibo Venezuela"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1541-8218","authenticated-orcid":false,"given":"Melissa L.","family":"Crenshaw","sequence":"additional","affiliation":[{"name":"Division of Genetics Johns Hopkins All Children's Hospital  St. Petersburg Florida USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roland","family":"Axt\u2010Fliedner","sequence":"additional","affiliation":[{"name":"Department of Prenatal Diagnosis and Fetal Therapy Justus\u2010Liebig University  Gie\u00dfen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5924-1720","authenticated-orcid":false,"given":"Claus H.","family":"Gravholt","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine Aarhus University Hospital  Aarhus Denmark"},{"name":"Department of Endocrinology Aarhus University Hospital  Aarhus Denmark"},{"name":"Department of Clinical Medicine Aarhus University  Aarhus Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9178-4901","authenticated-orcid":false,"given":"Anne","family":"Skakkeb\u00e6k","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine Aarhus University Hospital  Aarhus Denmark"},{"name":"Department of Clinical Genetics Aarhus University Hospital  Aarhus Denmark"},{"name":"Department of Clinical Medicine Aarhus University  Aarhus Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,3,5]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13148-018-0477-0"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/AOG.0000000000004084"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30092"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.6320"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.6320"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.12513"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31805"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-018-0976-2"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.219"},{"issue":"1","key":"e_1_2_12_11_1","first-page":"29","article-title":"Turner Syndrome: New Insights from Prenatal Genomics and Transcriptomics","volume":"181","author":"Bianchi D. 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