{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,12]],"date-time":"2025-04-12T04:11:23Z","timestamp":1744431083912,"version":"3.40.4"},"reference-count":17,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2025,2,15]],"date-time":"2025-02-15T00:00:00Z","timestamp":1739577600000},"content-version":"vor","delay-in-days":0,"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":[[2025,4]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>To investigate the current genetic counseling practices involving a cfDNA result indicating mosaic monosomy X of likely maternal origin, and to better understand the perspectives of patients who have received this result.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>A total of 60 prenatal genetic counselors completed surveys about their experiences with this result, cfDNA consenting practices, and management practices. In addition, qualitative interviews were conducted with 5 patients to gain insight into their experiences with result disclosure and follow\u2010up care.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>95% of genetic counselors reported feeling prepared to counsel on these results. However, responses to current practices varied. Of the genetic counselors surveyed, 62% state that their approach to management does not differ if the patient is symptomatic. Responses indicated 95% of genetic counselors ordered a karyotype for maternal diagnostic testing, and 30% ordered a chromosomal microarray. Interviews of patients found that 100% were not aware of the possibility of receiving an incidental finding from cfDNA. Patients reported feeling surprised, confused, and worried when they received their results.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The majority of genetic counselors report feeling confident in counseling these results, but their current practices vary. Patients who receive these results are found to have a difficult time adapting due to feeling surprised and confused. Based on these findings, we believe professional practice guidelines are needed to establish clear management recommendations, which in turn would hopefully decrease patient and provider stress.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.6760","type":"journal-article","created":{"date-parts":[[2025,2,15]],"date-time":"2025-02-15T14:03:31Z","timestamp":1739628211000},"page":"482-490","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Cell\u2010Free DNA Results Indicating Mosaic Monosomy X of Likely Maternal Origin: Impact on Genetic Counseling Practices and Patient Experiences"],"prefix":"10.1002","volume":"45","author":[{"ORCID":"https:\/\/orcid.org\/0009-0003-1980-9416","authenticated-orcid":false,"given":"Audrey","family":"McBride","sequence":"first","affiliation":[{"name":"Department of Clinical and Diagnostic Sciences University of Alabama at Birmingham  Birmingham Alabama USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ashley","family":"Cannon","sequence":"additional","affiliation":[{"name":"Department of Clinical and Diagnostic Sciences University of Alabama at Birmingham  Birmingham Alabama USA"},{"name":"InformedDNA  St. Petersburg Florida USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Siddharth","family":"Prakash","sequence":"additional","affiliation":[{"name":"Division of Cardiology Department of Internal Medicine University of Texas Health Sciences Center at Houston  Houston Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aaron W.","family":"Roberts","sequence":"additional","affiliation":[{"name":"Division of Maternal\u2010Fetal Medicine Department of Obstetrics, Gynecology and Reproductive Sciences McGovern Medical School at UTHealth Houston  Houston Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angela","family":"Seasely","sequence":"additional","affiliation":[{"name":"Division of Maternal Fetal Medicine Department of Obstetrics and Gynecology University of Alabama at Birmingham  Birmingham Alabama USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna C. E.","family":"Hurst","sequence":"additional","affiliation":[{"name":"Department of Genetics University of Alabama at Birmingham  Birmingham Alabama USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Hendon","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics and Obstetrics and Gynecology University of Mississippi Medical Center  Jackson Mississippi USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,2,15]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2018.4"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2023.976051"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/0471142905.hg0923s77"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/AOG.0000000000004833"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/jog.14268"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4666"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.6298"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1177\/2042018817746291"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2006-1374"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.fertnstert.2012.08.021"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.1055\/a\u20102126\u20107476"},{"key":"e_1_2_12_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2024.117770"},{"key":"e_1_2_12_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/jgc4.1635"},{"key":"e_1_2_12_15_1","doi-asserted-by":"publisher","DOI":"10.1530\/eje\u201017\u20100430"},{"key":"e_1_2_12_16_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2006-1374"},{"key":"e_1_2_12_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1666"},{"key":"e_1_2_12_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/s13187\u2010020\u201001823\u20100"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.6760","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,11]],"date-time":"2025-04-11T13:36:59Z","timestamp":1744378619000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.6760"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,2,15]]},"references-count":17,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2025,4]]}},"alternative-id":["10.1002\/pd.6760"],"URL":"https:\/\/doi.org\/10.1002\/pd.6760","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"type":"print","value":"0197-3851"},{"type":"electronic","value":"1097-0223"}],"subject":[],"published":{"date-parts":[[2025,2,15]]},"assertion":[{"value":"2024-06-28","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-02-03","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-02-15","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}