{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T07:45:50Z","timestamp":1791877550378,"version":"4.3.4"},"reference-count":19,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2026,8,12]],"date-time":"2026-08-12T00:00:00Z","timestamp":1786492800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,8,12]],"date-time":"2026-08-12T00:00:00Z","timestamp":1786492800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82171165"],"award-info":[{"award-number":["82171165"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82572115"],"award-info":[{"award-number":["82572115"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82271904"],"award-info":[{"award-number":["82271904"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012166","name":"National Key Research and Development Program of China","doi-asserted-by":"publisher","award":["2025YFC2708201"],"award-info":[{"award-number":["2025YFC2708201"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100008838","name":"Shanghai Municipal Commission of Economy and Informatization","doi-asserted-by":"publisher","award":["2025_GZL_RGZN_01036"],"award-info":[{"award-number":["2025_GZL_RGZN_01036"]}],"id":[{"id":"10.13039\/501100008838","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2026,10]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>Uniparental disomy (UPD), particularly heterodisomy (hUPD), is an underdiagnosed etiology in cases of fetal growth restriction (FGR) and discordant noninvasive prenatal testing (NIPT). Because conventional absence\u2010of\u2010heterozygosity (AOH) analysis frequently misses hUPDs, we aimed to validate a systematic Mendelian inheritance error (MIE) analysis pipeline for trio exome sequencing (trio\u2010ES) to resolve ambiguous prenatal findings.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Method<\/jats:title>\n                    <jats:p>\n                      A two\u2010stage study analyzed 1948 parent\u2010offspring trios (postnatal and prenatal samples). A retrospective cohort (\n                      <jats:italic>n<\/jats:italic>\n                      \u00a0=\u00a0992) established and validated a quantitative biparental inheritance percentage (BPI%) threshold. This workflow was prospectively applied (\n                      <jats:italic>n<\/jats:italic>\n                      \u00a0=\u00a0956) to evaluate clinical utility, focusing on discordant NIPT and unexplained fetal growth restriction (FGR). Orthogonal analysis of methylation or short\u2010tandem repeats (STR) were used to confirm identified UPD.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Utilizing a BPI% &lt; 0.7 threshold, the pipeline identified 12 clinically significant UPD events. Crucially, 25% (3\/12) were hUPDs missed by standard AOH analysis of exome. Prenatally, the pipeline resolved 57.1% (4\/7; 95% CI: 18.4%\u201390.1%) of discordant NIPT cases, inferring trisomy rescue and confined placental mosaicism that explained the associated FGR. Postnatally, it unmasked 8 UPD events associated with imprinting disorders for pediatric cases.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>MIE analysis of existing trio\u2010ES data effectively captures hUPDs missed by conventional AOH analysis. Routine integration of this pipeline resolves discordant NIPT results, explains FGR, and enables comprehensive UPD detection.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/pd.70238","type":"journal-article","created":{"date-parts":[[2026,8,12]],"date-time":"2026-08-12T12:32:15Z","timestamp":1786537935000},"page":"1711-1720","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Trio\u2010Exome\u2010Based Mendelian Inheritance Error Analysis Helps Identify Uniparental Disomies and Resolve Discordant NIPT Findings"],"prefix":"10.1002","volume":"46","author":[{"given":"Ting","family":"Xu","sequence":"first","affiliation":[{"name":"Clinical Genetics Center Shanghai Institute for Pediatric Research Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qingwen","family":"Zeng","sequence":"additional","affiliation":[{"name":"Department of Laboratory Shanghai Jiahui International Hospital  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xinyi","family":"Lu","sequence":"additional","affiliation":[{"name":"Clinical Genetics Center Shanghai Institute for Pediatric Research Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoyan","family":"Huo","sequence":"additional","affiliation":[{"name":"Clinical Genetics Center Shanghai Institute for Pediatric Research Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huili","family":"Liu","sequence":"additional","affiliation":[{"name":"Clinical Genetics Center Shanghai Institute for Pediatric Research Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tingting","family":"Yang","sequence":"additional","affiliation":[{"name":"Clinical Genetics Center Shanghai Institute for Pediatric Research Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linlin","family":"Chen","sequence":"additional","affiliation":[{"name":"Clinical Genetics Center Shanghai Institute for Pediatric Research Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qianfeng","family":"Zhao","sequence":"additional","affiliation":[{"name":"Clinical Genetics Center Shanghai Institute for Pediatric Research Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-5029-4104","authenticated-orcid":false,"given":"Yi","family":"Liu","sequence":"additional","affiliation":[{"name":"Clinical Genetics Center Shanghai Institute for Pediatric Research Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2938-0233","authenticated-orcid":false,"given":"Yu","family":"Sun","sequence":"additional","affiliation":[{"name":"Clinical Genetics Center Shanghai Institute for Pediatric Research Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3736-6714","authenticated-orcid":false,"given":"Bing","family":"Xiao","sequence":"additional","affiliation":[{"name":"Clinical Genetics Center Shanghai Institute for Pediatric Research Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenjuan","family":"Qiu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lei","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hong","family":"Zhu","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8241-325X","authenticated-orcid":false,"given":"Huiwen","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yongguo","family":"Yu","sequence":"additional","affiliation":[{"name":"Clinical Genetics Center Shanghai Institute for Pediatric Research Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine  Shanghai China"},{"name":"Department of Pediatric Endocrinology Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7006-733X","authenticated-orcid":false,"given":"Yanjie","family":"Fan","sequence":"additional","affiliation":[{"name":"Clinical Genetics Center Shanghai Institute for Pediatric Research Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine  Shanghai 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\u201cCases with Uniparental Disomy \u201d2026 accessed on June 30 2026 https:\/\/cs\u2010tl.de\/DB\/CA\/UPD\/0\u2010Start.html."},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2018.24"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.6400"}],"container-title":["Prenatal 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