{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,30]],"date-time":"2026-06-30T03:44:50Z","timestamp":1782791090420,"version":"3.54.5"},"reference-count":32,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2025,11,26]],"date-time":"2025-11-26T00:00:00Z","timestamp":1764115200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2025,11,26]],"date-time":"2025-11-26T00:00:00Z","timestamp":1764115200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100020295","name":"Natera","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100020295","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ultrasound in Obstet &amp; Gyne"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>Prenatal single\u2010nucleotide polymorphism (SNP)\u2010based cell\u2010free DNA (cfDNA) screening can identify genome\u2010wide paternal uniparental disomy (GW\u2010UPDpat), including cases with complete hydatidiform mole with a coexisting fetus (CHMCF), those with placental mesenchymal dysplasia (PMD) and those with a mosaic\/chimeric GW\u2010UPDpat syndrome. Our objective was to review laboratory data and pregnancy outcome for SNP\u2010based cfDNA screening tests with results compatible with GW\u2010UPDpat and a normal cell line.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>This was a retrospective study of all cfDNA screening results from a single commercial laboratory between June 2014 and November 2023 that were reported as twins or triploidy, with apparent GW\u2010UPDpat. Two\u2010dimensional representations of the relative ratios of SNP alleles (SNP plots) were used to identify and quantify the proportion of cfDNA from the mole (\u2018molar fraction\u2019) and that from the coexisting non\u2010molar pregnancy (\u2018fetal fraction\u2019). Test referral and follow\u2010up information, including ultrasound findings, laboratory testing and pregnancy outcome, were reviewed.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Of 5\u2009699\u2009009 tests reviewed, 89 were reported as twins or triploidy, with apparent GW\u2010UPDpat. Retrospective review of SNP plots excluded 12 cases that were reinterpreted as triploidy with an extra set of paternal chromosomes. Of the remaining 77 cases, 24 had follow\u2010up pregnancy information available, and of these, 21 (87.5%) had ultrasound and\/or pathology findings that were consistent with CHMCF. The fetal cfDNA fraction was often very low (\u2264\u20092% in 28 cases). The molar cfDNA fraction was in the range of 10\u201358%. Fetal sex was male in 35 cases, female in 40 cases and uncertain in two cases. No case showed clear evidence of a Y\u2010chromosome in the GW\u2010UPDpat line. All 77 cases had isodisomy; none showed clear evidence of regions of heterodisomy.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      SNP\u2010based cfDNA screening can help to identify CHMCF and distinguish between CHMCF and triploidy. For CHMCF, early detection is important for evaluating the risk of adverse outcome and gestational trophoblastic neoplasia. Some of our test\u2010positive cases could have included unrecognized PMD or mosaic\/chimeric GW\u2010UPDpat syndrome. These preliminary observations do not allow assessment of the sensitivity or positive predictive value of this test. \u00a9 2025 Natera, Inc.\n                      <jats:italic>Ultrasound in Obstetrics &amp; Gynecology<\/jats:italic>\n                      published by John Wiley &amp; Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/uog.70144","type":"journal-article","created":{"date-parts":[[2025,11,27]],"date-time":"2025-11-27T05:44:16Z","timestamp":1764222256000},"page":"73-78","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Whole\u2010genome paternal uniparental disomy identified through prenatal single\u2010nucleotide polymorphism\u2010based cell\u2010free\n                    <scp>DNA<\/scp>\n                    screening"],"prefix":"10.1002","volume":"67","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7917-6946","authenticated-orcid":false,"given":"P.","family":"Benn","sequence":"first","affiliation":[{"name":"University of Connecticut Health Center  Farmington CT USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Hashimoto","sequence":"additional","affiliation":[{"name":"Natera, Inc.  Austin TX USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V.","family":"Souter","sequence":"additional","affiliation":[{"name":"Natera, Inc.  Austin TX USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Dhamankar","sequence":"additional","affiliation":[{"name":"Natera, Inc.  Austin TX USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W.","family":"Xu","sequence":"additional","affiliation":[{"name":"Natera, Inc.  Austin TX USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Kijacic","sequence":"additional","affiliation":[{"name":"Natera, Inc.  Austin TX USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,11,26]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.hoc.2024.07.004"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.3390\/cancers14225563"},{"issue":"10","key":"e_1_2_7_4_1","first-page":"611","article-title":"Diagnosis and management of placental mesenchymal disease. a review of the literature","volume":"74","author":"Colpaert RM","year":"2019","journal-title":"Obstet Gynecol Surv"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-019-0551-9"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.033571"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.hoc.2024.08.017"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.radi.2022.06.005"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms25168739"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.3390\/diseases12070159"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bpobgyn.2020.12.002"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/1471-0528.16283"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2023.09.006"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00404-020-05515-4"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.14003"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.3993"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.6169"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5989"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.14854"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0040-1709981"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0043-1774727"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1097\/AOG.0000000000000363"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1159\/000442931"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gore.2024.101375"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13148-022-01280-0"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.6634"},{"key":"e_1_2_7_27_1","doi-asserted-by":"publisher","DOI":"10.1038\/s10038-018-0444-9"},{"key":"e_1_2_7_28_1","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/den226"},{"issue":"1","key":"e_1_2_7_29_1","first-page":"E1","article-title":"Ultrasound and MRI findings of twin pregnancies with complete hydatidiform mole and coexisting normal fetus: two case reports","volume":"64","author":"Imafuku H","year":"2018","journal-title":"Kobe J Med Sci"},{"key":"e_1_2_7_30_1","doi-asserted-by":"publisher","DOI":"10.1093\/ajcp\/aqv012"},{"key":"e_1_2_7_31_1","first-page":"e1","article-title":"Management of gestational trophoblastic disease","volume":"128","author":"Tidy J","year":"2021","journal-title":"BJOG"},{"key":"e_1_2_7_32_1","first-page":"e96","article-title":"Complete molar pregnancies with a coexisting fetus: pregnancy outcomes and review of the literature","volume":"12","author":"Irani RA","year":"2022","journal-title":"AJP"},{"key":"e_1_2_7_33_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.12359"}],"container-title":["Ultrasound in Obstetrics &amp; 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