{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T00:53:39Z","timestamp":1790902419406,"version":"4.1.0"},"reference-count":14,"publisher":"Wiley","license":[{"start":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T00:00:00Z","timestamp":1790812800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T00:00:00Z","timestamp":1790812800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>Cell\u2010free DNA whole\u2010genome screening (cfDNA\u2010WG) is offered at our institution to patients with abnormal fetal ultrasound findings who decline diagnostic testing. We describe the cfDNA\u2010WG performance in this clinical population.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We conducted a retrospective cohort study of singleton pregnancies with abnormal fetal ultrasound findings between April 2018 and July 2024. Descriptive data were abstracted via chart review. When diagnostic testing was performed, this was compared to the cfDNA\u2010WG results.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      376 subjects met the inclusion criteria. Ultrasound findings included multiple congenital anomalies (\n                      <jats:italic>n<\/jats:italic>\n                      \u00a0=\u00a0123), isolated structural anomaly (\n                      <jats:italic>n<\/jats:italic>\n                      \u00a0=\u00a0132), isolated soft marker (\n                      <jats:italic>n<\/jats:italic>\n                      \u00a0=\u00a063), thickened nuchal translucency (\n                      <jats:italic>n<\/jats:italic>\n                      \u00a0=\u00a050), and fetal growth restriction (\n                      <jats:italic>n<\/jats:italic>\n                      \u00a0=\u00a08). cfDNA\u2010WG was abnormal in 24 cases (6.4%). Most abnormal results (87.5%) were common whole\u2010chromosome aneuploidies: Trisomy 21 (\n                      <jats:italic>n<\/jats:italic>\n                      \u00a0=\u00a010), Trisomy 18 (\n                      <jats:italic>n<\/jats:italic>\n                      \u00a0=\u00a06), Trisomy 13 (\n                      <jats:italic>n<\/jats:italic>\n                      \u00a0=\u00a02), and Monosomy\n                      <jats:italic>X<\/jats:italic>\n                      (\n                      <jats:italic>n<\/jats:italic>\n                      \u00a0=\u00a03). Other abnormal results included one rare autosomal trisomy (Trisomy 22) and two copy number variants. Diagnostic testing was performed in 42 subjects (11.2%), with seven discordant results, including trisomy 8, four single\u2010gene disorders, and two chromosomal mosaicisms.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>In this cohort with abnormal ultrasound findings, abnormal cfDNA\u2010WG results primarily reflected common aneuploidies detectable by standard cfDNA. There were five cases with normal cfDNA\u2010WG in fetuses with significant genetic disorders, limiting the value of normal results.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/pd.70268","type":"journal-article","created":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T00:00:15Z","timestamp":1790899215000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Cell Free DNA Whole Genome in Clinical Practice: A Single Center Seven\u2010Year Experience"],"prefix":"10.1002","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1217-5046","authenticated-orcid":false,"given":"Alissa K.","family":"Prior","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology Case Western Reserve University School of Medicine MetroHealth Medical Center  Cleveland Ohio USA"},{"name":"Department of Obstetrics and Gynecology Case Western Reserve University School of Medicine University Hospitals  Cleveland Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9168-0870","authenticated-orcid":false,"given":"Lauren","family":"Taylor","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Case Western Reserve University School of Medicine MetroHealth Medical Center  Cleveland Ohio USA"},{"name":"Department of Reproductive Biology Case Western Reserve University School of Medicine  Cleveland Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nick P.","family":"Guilda","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Case Western Reserve University School of Medicine MetroHealth Medical Center  Cleveland Ohio USA"},{"name":"Department of Reproductive Biology Case Western Reserve University School of Medicine  Cleveland Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-2003-4578","authenticated-orcid":false,"given":"Cameron","family":"Friedman","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Case Western Reserve University School of Medicine MetroHealth Medical Center  Cleveland Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jane E.","family":"Corteville","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Case Western Reserve University School of Medicine MetroHealth Medical Center  Cleveland Ohio USA"},{"name":"Department of Obstetrics and Gynecology Case Western Reserve University School of Medicine University Hospitals  Cleveland Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9245-520X","authenticated-orcid":false,"given":"Angela C.","family":"Ranzini","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Case Western Reserve University School of Medicine MetroHealth Medical Center  Cleveland Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,10,1]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/AOG.0000000000001815"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/AOG.0000000000001817"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/AOG.0000000000004084"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.17228"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s43032\u2010023\u201001399\u20102"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/jum.14215"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1203382"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.12575"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5545"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2016.07.016"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140\u20106736(18)31940\u20108"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.6735"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2018.9418"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1080\/14767058.2019.1647161"}],"container-title":["Prenatal 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