{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T04:45:15Z","timestamp":1791002715999,"version":"4.1.0"},"reference-count":17,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2022,1,5]],"date-time":"2022-01-05T00:00:00Z","timestamp":1641340800000},"content-version":"vor","delay-in-days":4,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ultrasound in Obstet &amp; Gyne"],"published-print":{"date-parts":[[2022,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Cell\u2010free DNA (cfDNA) screening assesses both maternal and placental cfDNA. Fibroids are common and release cfDNA into maternal serum. Genetic abnormality is seen in 50% of fibroids. We aimed to assess the impact of fibroids on the accuracy of genome\u2010wide cfDNA screening.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>This was a prospective cohort study of singleton pregnancies examined at one of two centers in Melbourne and Sydney, Australia, between 1 November 2019 and 31 December 2020. All cases underwent pretest ultrasound examination to confirm an ongoing pregnancy of at least 10\u2009weeks' gestation, and, at this stage, the number and volume of any uterine fibroid were documented. Genome\u2010wide cfDNA screening was performed to detect all copy\u2010number variants (CNV) &gt;\u20097\u2009megabases. The incidence of a false\u2010positive result was compared between cases with and those without fibroids.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Over the 14\u2010month study period, 13\u2009184 patients underwent cfDNA screening, of whom 1017 (7.7%) had fibroids. Fibroids were not identified in any of the 17 participants who had a false\u2010positive result for chromosomes 13, 18, 21, X or Y. Ninety\u2010five (0.7%) cases were screen\u2010positive for subchromosomal aberration (SA), rare autosomal trisomy (RAT) or multiple abnormalities (MA), with 10 of these cases having a fetal genetic abnormality. The incidence of a false\u2010positive RAT, MA or SA result was significantly higher in participants with fibroids (20\/1017 (2.0%)) than in those without fibroids (64\/12\u2009167 (0.5%)). Women with fibroids were approximately six times as likely to have a false\u2010positive result for SA, and this was associated positively with both fibroid number and volume.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Most women with fibroids do not have an abnormal result on genome\u2010wide cfDNA screening. However, CNVs due to fibroids are associated with false\u2010positive SA findings, although fibroids do not appear to influence cfDNA screening accuracy for the common autosomal trisomies or sex\u2010chromosomal abnormalities. \u00a9 2021 International Society of Ultrasound in Obstetrics and Gynecology.<\/jats:p><\/jats:sec>","DOI":"10.1002\/uog.23763","type":"journal-article","created":{"date-parts":[[2021,8,16]],"date-time":"2021-08-16T07:52:50Z","timestamp":1629100370000},"page":"114-119","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":29,"title":["Influence of fibroids on cell\u2010free <scp>DNA<\/scp> screening accuracy"],"prefix":"10.1002","volume":"59","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7705-9559","authenticated-orcid":false,"given":"F.","family":"Scott","sequence":"first","affiliation":[{"name":"Sydney Ultrasound for Women  Sydney Australia"},{"name":"University of New South Wales  Sydney Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Menezes","sequence":"additional","affiliation":[{"name":"Monash Ultrasound for Women  Melbourne Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. E.","family":"Smet","sequence":"additional","affiliation":[{"name":"Sydney Ultrasound for Women  Sydney Australia"},{"name":"Department of Obstetrics and Gynaecology Westmead Hospital  Sydney Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Carey","sequence":"additional","affiliation":[{"name":"Sydney Ultrasound for Women  Sydney Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Hardy","sequence":"additional","affiliation":[{"name":"Repromed  Adelaide Australia"},{"name":"South Australia Pathology  Adelaide Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Fullston","sequence":"additional","affiliation":[{"name":"Repromed  Adelaide Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D. L.","family":"Rolnik","sequence":"additional","affiliation":[{"name":"Monash Ultrasound for Women  Melbourne Australia"},{"name":"Department of Obstetrics and Gynaecology Monash University  Melbourne Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"McLennan","sequence":"additional","affiliation":[{"name":"Sydney Ultrasound for Women  Sydney Australia"},{"name":"University of Sydney  Sydney Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,1,5]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.2147\/IJWH.S67124"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.06.022"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/clinchem\/48.3.421"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tjog.2019.11.003"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/clinchem\/hvab067"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4629"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2017.277517"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/1098-2264(200007)28:3<235::AID-GCC1>3.0.CO;2-7"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bpobgyn.2008.04.002"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1089\/jwh.2013.4334"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bpobgyn.2017.10.004"},{"key":"e_1_2_7_13_1","first-page":"181","article-title":"The genetic bases of uterine fibroids; A review","volume":"12","author":"Medikare V","year":"2011","journal-title":"J Reprod Infertil"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0301-2115(98)00204-8"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1302736"},{"key":"e_1_2_7_16_1","unstructured":"National Health and Medical Research Council.Ethical Considerations in Quality Assurance and Evaluation Activities 2014.https:\/\/www.nhmrc.gov.au\/about\u2010us\/resources\/ethical\u2010considerations\u2010quality\u2010assurance\u2010and\u2010evaluation\u2010activities."},{"key":"e_1_2_7_17_1","first-page":"1","article-title":"Detection of circulating tumour DNA in patients with uterine leiomyomas","volume":"3","author":"Przybyl J","year":"2019","journal-title":"JCO Precision Oncol"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5788"}],"container-title":["Ultrasound in Obstetrics &amp; Gynecology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/uog.23763","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/uog.23763","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/uog.23763","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,28]],"date-time":"2023-08-28T09:02:11Z","timestamp":1693213331000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/uog.23763"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,1]]},"references-count":17,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2022,1]]}},"alternative-id":["10.1002\/uog.23763"],"URL":"https:\/\/doi.org\/10.1002\/uog.23763","archive":["Portico"],"relation":{},"ISSN":["0960-7692","1469-0705"],"issn-type":[{"value":"0960-7692","type":"print"},{"value":"1469-0705","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,1]]},"assertion":[{"value":"2021-07-02","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-08-09","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-01-05","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}