{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,26]],"date-time":"2026-05-26T08:02:38Z","timestamp":1779782558736,"version":"3.53.1"},"reference-count":35,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2026,2,22]],"date-time":"2026-02-22T00:00:00Z","timestamp":1771718400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2026,2,22]],"date-time":"2026-02-22T00:00:00Z","timestamp":1771718400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100012217","name":"Xuzhou Medical University","doi-asserted-by":"publisher","award":["XZFC202305"],"award-info":[{"award-number":["XZFC202305"]}],"id":[{"id":"10.13039\/501100012217","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2026,6]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>To investigate the correlation between genetic abnormalities and fetal genitourinary (GU) anomalies in Eastern China and to provide assistance for the clinical management of fetuses with different types of GU anomalies. Five hundred forty\u2010five fetuses with GU anomalies were enrolled, undergoing karyotyping, copy number variation sequencing (CNV\u2010seq) or chromosomal microarray analysis (CMA), and trio\u2010exome sequencing (trio\u2010ES), and received long\u2010term follow\u2010ups from 6\u2009months to 7\u2009years. The top five GU anomalies were hydronephrosis, renal agenesis, multicystic dysplastic kidney, genital cysts, and genital abnormalities. 4.77% (19\/398) of chromosomal abnormalities were detected by karyotyping, and 39 CNVs were revealed in 354 cases by CNV\u2010seq\/CMA simultaneously, with 6.50% (23\/354) of additional CNVs. Genetic abnormalities were more frequent in reproductive system anomalies, nonisolated, and multiple GU anomalies. Two of eight with pathogenic\/likely pathogenic genes were additionally detected. Five hundred thirty\u2010four pregnancy outcomes were obtained, including 418 (76.70%) live births with favorable outcomes, two (0.37%) intrauterine fetal deaths, and 114 (20.92%) terminations mainly due to genetic abnormalities or nonisolated anomalies. The fetuses with reproductive system anomalies, nonisolated, and multiple GU anomalies were associated with genetic abnormalities. Therefore, a closed\u2010loop management strategy including \u201cdiagnosis\u2013assessment\u2013intervention\u2013follow\u2010up\u201d should be provided for fetuses with GU anomalies from pregnancy to postpartum period.<\/jats:p>","DOI":"10.1002\/ajmg.a.70094","type":"journal-article","created":{"date-parts":[[2026,2,23]],"date-time":"2026-02-23T02:49:11Z","timestamp":1771814951000},"page":"1362-1371","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Genetic Abnormalities and Clinical Management of Fetal Genitourinary System Anomalies in Eastern China"],"prefix":"10.1002","volume":"200","author":[{"given":"Jie","family":"Liang","sequence":"first","affiliation":[{"name":"Department of Prenatal Diagnosis Center Xuzhou Central Hospital, Xuzhou Clinical College of Xuzhou Medical University  Xuzhou Jiangsu China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiebin","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Xuzhou Central Hospital, Xuzhou Clinical College of Xuzhou Medical University  Xuzhou Jiangsu China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lin","family":"Zhang","sequence":"additional","affiliation":[{"name":"School of Information and Control Engineering China University of Mining and Technology  Xuzhou Jiangsu China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yunmeng","family":"Qi","sequence":"additional","affiliation":[{"name":"Department of Prenatal Diagnosis Center Xuzhou Central Hospital, Xuzhou Clinical College of Xuzhou Medical University  Xuzhou Jiangsu China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yi","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Genetic Center Xuzhou Maternal and Child Health Hospital  Xuzhou Jiangsu China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xu","family":"Cao","sequence":"additional","affiliation":[{"name":"Department of Prenatal Diagnosis Center Wanbei Coal Power Group General Hospital  Suzhou Anhui China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7109-3193","authenticated-orcid":false,"given":"Jingfang","family":"Zhai","sequence":"additional","affiliation":[{"name":"Department of Prenatal Diagnosis Center Xuzhou Central Hospital, Xuzhou Clinical College of Xuzhou Medical University  Xuzhou Jiangsu China"},{"name":"Department of Pediatric Xuzhou Central Hospital, Xuzhou Clinical College of Xuzhou Medical University  Xuzhou Jiangsu China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,2,22]]},"reference":[{"key":"e_1_2_14_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2016.131"},{"key":"e_1_2_14_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41585\u2010022\u201000563\u20108"},{"key":"e_1_2_14_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrneph.2014.232"},{"key":"e_1_2_14_5_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.ro.2003.12.005"},{"key":"e_1_2_14_6_1","doi-asserted-by":"publisher","DOI":"10.3760\/cma.j.cn511374\u201020210920\u201000765"},{"key":"e_1_2_14_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpurol.2011.12.012"},{"key":"e_1_2_14_8_1","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2022010076"},{"key":"e_1_2_14_9_1","doi-asserted-by":"publisher","DOI":"10.1148\/rg.230084"},{"key":"e_1_2_14_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00467\u2010023\u201005907\u2010z"},{"key":"e_1_2_14_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5550"},{"key":"e_1_2_14_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/ki.2013.508"},{"key":"e_1_2_14_13_1","first-page":"172","article-title":"Multiple Genitourinary Malformations Associated With Malformations of Other Organs\u2010As a Rarity of Case Report","volume":"4","author":"Hyseni F.","year":"2021","journal-title":"Journal of Surgical Research"},{"key":"e_1_2_14_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s40620\u2010021\u201001142\u20107"},{"key":"e_1_2_14_15_1","doi-asserted-by":"publisher","DOI":"10.2147\/IJGM.S483290"},{"key":"e_1_2_14_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5737"},{"key":"e_1_2_14_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5420"},{"key":"e_1_2_14_18_1","doi-asserted-by":"publisher","DOI":"10.1159\/000516654"},{"key":"e_1_2_14_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00404\u2010024\u201007789\u20104"},{"key":"e_1_2_14_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.6115"},{"key":"e_1_2_14_21_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431\u2010015\u20102687\u20101"},{"key":"e_1_2_14_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140\u20106736(18)32042\u20107"},{"key":"e_1_2_14_23_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11596\u2010020\u20102268\u2010z"},{"key":"e_1_2_14_24_1","doi-asserted-by":"publisher","DOI":"10.23736\/S0393\u20102249.17.03034\u2010X"},{"key":"e_1_2_14_25_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_14_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/jgc4.1049"},{"key":"e_1_2_14_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.24888"},{"key":"e_1_2_14_28_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI95300"},{"key":"e_1_2_14_29_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms24098317"},{"key":"e_1_2_14_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5536"},{"key":"e_1_2_14_31_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes14071490"},{"key":"e_1_2_14_32_1","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2017121265"},{"key":"e_1_2_14_33_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2017.10.225"},{"key":"e_1_2_14_34_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1203382"},{"issue":"14","key":"e_1_2_14_35_1","first-page":"2482","article-title":"Exome Sequencing Identifies Compound Heterozygous PKHD1 Mutations as a Cause of Autosomal Recessive Polycystic Kidney Disease","volume":"125","author":"Zhang D.","year":"2012","journal-title":"Chinese Medical Journal"},{"key":"e_1_2_14_36_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2024.1401315"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.70094","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.70094","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.70094","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,26]],"date-time":"2026-05-26T07:09:47Z","timestamp":1779779387000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.70094"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,2,22]]},"references-count":35,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2026,6]]}},"alternative-id":["10.1002\/ajmg.a.70094"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.70094","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,2,22]]},"assertion":[{"value":"2025-06-17","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-02-10","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-02-22","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}