{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T13:57:58Z","timestamp":1791381478538,"version":"4.3.3"},"reference-count":23,"publisher":"Wiley","license":[{"start":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T00:00:00Z","timestamp":1791331200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T00:00:00Z","timestamp":1791331200000},"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>To explore genetic investigative results in fetuses with isolated pelvic kidney.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>This was a retrospective study of 212 fetuses with isolated pelvic kidney diagnosed on second trimester anatomy ultrasound. All cases underwent invasive prenatal diagnosis for copy number variant (CNV) detection by chromosomal microarray analysis (CMA). For those with a negative CNV, trio exome sequencing (ES) was an option. Clinical and laboratory data were collected and reviewed for these cases, including maternal demographics, prenatal sonographic findings, molecular testing results, and pregnancy outcomes.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      In total, 212 cases underwent CMA testing, which identified one case of pathogenic CNV, specifically a de novo 16p11.2 microdeletion. Among the cases that yielded negative results from CMA, 118 proceeded to trio ES. Five (4.2%; 5\/118) disease\u2010causing variants across five unrelated fetuses, involving four genes:\n                      <jats:italic>DLL1<\/jats:italic>\n                      ,\n                      <jats:italic>KMT2D<\/jats:italic>\n                      ,\n                      <jats:italic>PTEN<\/jats:italic>\n                      and\n                      <jats:italic>PRKG1<\/jats:italic>\n                      , with two cases harboring distinct pathogenic variants in\n                      <jats:italic>KMT2D<\/jats:italic>\n                      . Following rigorous phenotype\u2013genotype correlation assessment, only the two KMT2D variants were deemed clinically attributable, resulting in an attributable diagnostic yield of 1.7% (2\/118). The remaining three variants were classified as incidental findings. With the exception of the\n                      <jats:italic>PRKG1<\/jats:italic>\n                      variant, which was inherited from the mother, the remaining four variants were confirmed as de novo.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Our results should raise clinical awareness among obstetricians and maternal\u2010fetal medicine specialists regarding the potential syndromic associations of pelvic kidney.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/pd.70271","type":"journal-article","created":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T13:28:57Z","timestamp":1791379737000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Genetic Investigation of Pregnancies With an Isolated Fetal Pelvic Kidney"],"prefix":"10.1002","author":[{"given":"Qiu\u2010Xia","family":"Yu","sequence":"first","affiliation":[{"name":"Prenatal Diagnostic Center Guangzhou Women and Children's Medical Center Guangzhou Medical University  Guangzhou Guangdong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li","family":"Zhen","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Center The Affiliated Guangdong Second Provincial General Hospital of Jinan University  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qi","family":"Tain","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine The Third Affiliated Hospital of Sun Yat\u2010Sen University  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Si\u2010Yun","family":"Li","sequence":"additional","affiliation":[{"name":"Prenatal Diagnostic Center Guangzhou Women and Children's Medical Center Guangzhou Medical University  Guangzhou Guangdong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jia\u2010Chun","family":"Guo","sequence":"additional","affiliation":[{"name":"Prenatal Diagnostic Center Guangzhou Women and Children's Medical Center Guangzhou Medical University  Guangzhou Guangdong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yong\u2010Ling","family":"Zhang","sequence":"additional","affiliation":[{"name":"Prenatal Diagnostic Center Guangzhou Women and Children's Medical Center Guangzhou Medical University  Guangzhou Guangdong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4583-6800","authenticated-orcid":false,"given":"Dong\u2010Zhi","family":"Li","sequence":"additional","affiliation":[{"name":"Prenatal Diagnostic Center Guangzhou Women and Children's Medical Center Guangzhou Medical University  Guangzhou Guangdong China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,10,7]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.7759\/cureus.2775"},{"issue":"6","key":"e_1_2_10_3_1","first-page":"10","article-title":"Unilateral Ectopic Kidney in the Pelvis\u2014A Case Report","volume":"34","author":"Kumar S.","year":"2011","journal-title":"Chang Gung Medical Journal"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1089\/end.2007.9945"},{"issue":"5","key":"e_1_2_10_5_1","doi-asserted-by":"crossref","first-page":"B26","DOI":"10.1016\/j.ajog.2021.06.047","article-title":"Pelvic Kidney","volume":"225","author":"Society for Maternal\u2010Fetal Medicine (SMFM)","year":"2021","journal-title":"American Journal of Obstetrics and 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