{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,7]],"date-time":"2026-08-07T15:59:23Z","timestamp":1786118363021,"version":"build-2736575974"},"reference-count":24,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2026,7,2]],"date-time":"2026-07-02T00:00:00Z","timestamp":1782950400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,7,2]],"date-time":"2026-07-02T00:00:00Z","timestamp":1782950400000},"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"],"published-print":{"date-parts":[[2026,8]]},"abstract":"ABSTRACT<\/jats:title>\n \n Objective<\/jats:title>\n To evaluate the clinical characteristics, genomic landscape, and perinatal outcomes of fetal polydactyly using combined copy number variation sequencing (CNV\u2010seq) and trio\u2010exome sequencing (trio\u2010ES).<\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n \n This retrospective cohort study included 44 prenatally confirmed fetuses with polydactyly. Cases were stratified into isolated (\n n<\/jats:italic>\n \u00a0=\u00a021) and non\u2010isolated (\n n<\/jats:italic>\n \u00a0=\u00a023) groups. Polydactyly was further subclassified according to anatomical distribution, laterality, and duplication axis. Genetic etiology was investigated using CNV\u2010seq and trio\u2010ES, and pregnancy outcomes were ascertained through clinical follow\u2010up.\n <\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n The overall genetic diagnostic yield was 36.4% (16\/44), comprising aneuploidies (\n n<\/jats:italic>\n \u00a0=\u00a06), one pathogenic CNV and monogenic disorders (\n n<\/jats:italic>\n \u00a0=\u00a09). Causative variants were identified in\n NEK1<\/jats:italic>\n ,\n EVC2<\/jats:italic>\n ,\n BBS4<\/jats:italic>\n ,\n GLI3<\/jats:italic>\n ,\n TBX3<\/jats:italic>\n ,\n MYCN<\/jats:italic>\n , and\n KIAA0825<\/jats:italic>\n , with one incidental finding in\n PIK3CD<\/jats:italic>\n . The diagnostic yield was significantly higher in the non\u2010isolated group than in the isolated group (60.9% vs. 9.5%,\n p<\/jats:italic>\n \u00a0<\u00a00.001). Specific anatomical features were associated with markedly increased genetic burden, including concurrent involvement of both upper and lower limbs (100%), bilateral presentation (64.7% vs. 18.5% for unilateral;\n p<\/jats:italic>\n \u00a0<\u00a00.01), and postaxial polydactyly (PAP) compared with preaxial polydactyly (PPD) (65.0% vs. 12.5%;\n p<\/jats:italic>\n \u00a0<\u00a00.001). Pregnancy outcomes differed substantially between phenotypic subgroups, with a live birth rate of 100% in isolated cases versus 34.8% in non\u2010isolated cases (\n p<\/jats:italic>\n \u00a0<\u00a00.001).\n <\/jats:p>\n <\/jats:sec>\n \n Conclusion<\/jats:title>\n Fetal polydactyly exhibits profound genetic and phenotypic heterogeneity. Although non\u2010isolated, multi\u2010limb, bilateral, and postaxial presentations are strong predictors of underlying chromosomal or monogenic disorders, apparently isolated cases still carry a clinically relevant genetic risk. The integration of detailed prenatal sonographic phenotyping with CNV\u2010seq and trio\u2010ES improves diagnostic precision, facilitates prognostic assessment, and informs prenatal counseling and long\u2010term postnatal surveillance.<\/jats:p>\n <\/jats:sec>","DOI":"10.1002\/pd.70216","type":"journal-article","created":{"date-parts":[[2026,7,2]],"date-time":"2026-07-02T16:09:57Z","timestamp":1783008597000},"page":"1364-1373","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Genomic Landscape and Perinatal Outcomes of Fetal Polydactyly: A Retrospective Cohort Study Integrating CNV\u2010seq and Trio\u2010ES"],"prefix":"10.1002","volume":"46","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3399-9004","authenticated-orcid":false,"given":"Hui","family":"Li","sequence":"first","affiliation":[{"name":"Medical Genetics Center Maternal and Child Health Hospital of Hubei Province Wuhan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaohong","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Ultrasonography Maternal and Child Health Hospital of Hubei Province Wuhan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lijun","family":"Liu","sequence":"additional","affiliation":[{"name":"Medical Genetics Center Maternal and Child Health Hospital of Hubei Province Wuhan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yayun","family":"Qin","sequence":"additional","affiliation":[{"name":"Medical Genetics Center Maternal and Child Health Hospital of Hubei Province Wuhan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yangyang","family":"Song","sequence":"additional","affiliation":[{"name":"Medical Genetics Center Maternal and Child Health Hospital of Hubei Province Wuhan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanyi","family":"Yao","sequence":"additional","affiliation":[{"name":"Medical Genetics Center Maternal and Child Health Hospital of Hubei Province Wuhan China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,7,2]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.5312\/wjo.v14.i1.13"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12276"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12884\u2010024\u201006417\u2010y"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdr2.2312"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2018.00447"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/MD.0000000000032060"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.14224"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.6709"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/jum.16602"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.6882"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/1097\u20100223(200011)20:11<905::aid\u2010pd934>3.0.co;2\u2010n\u2010n"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2019.09.023"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.70112"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023\u2010025\u201004001\u2010x"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436\u2010019\u20100686\u20108"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436\u2010019\u20100731\u20107"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.64260"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.6714"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes13071230"},{"key":"e_1_2_11_22_1","volume-title":"GeneReviews(\u00ae)","author":"McDonald\u2010McGinn D. 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