{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,26]],"date-time":"2026-07-26T06:04:58Z","timestamp":1785045898990,"version":"3.55.0"},"reference-count":40,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2024,10,3]],"date-time":"2024-10-03T00:00:00Z","timestamp":1727913600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2024,11]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Objectives<\/jats:title><jats:p>To investigate the diagnostic utility of copy\u2010number variant (CNV) detection by chromosomal microarray analysis (CMA) and genotype\u2010phenotype associations in prenatal congenital anomalies of the kidney and urinary tract (CAKUT).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>This is a retrospective multi\u2010center study of CNV analysis in 457 fetuses with ultrasound\u2010detected CAKUT and normal karyotypes. Cohorts from published studies were included for further pooled analyses (<jats:italic>N<\/jats:italic>\u00a0=\u00a02746). A literature review of single\u2010nucleotide variant (SNV) and small insertions and deletions (Indel) analysis by whole\u2010exome sequencing was performed to investigate monogenic causes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In our multi\u2010center cohort, 5.3% (24\/457) of fetuses had pathogenic CNVs (pCNV); 3.9% (14\/359) and 10.2% (10\/98) in isolated and non\u2010isolated CAKUT, respectively. Fetuses with isolated hyperechogenic kidneys (HEK) had the highest incidence of having pCNVs. In the literature review, 6.6% (180\/2746) of fetuses carried pCNVs; 6.1% and 7.5% in isolated and non\u2010isolated CAKUT, respectively. SNV\/Indel analysis provided at least 16.5% (63\/381) additional diagnostic yield beyond CNV analysis; 12.8% and 23.8% in isolated and non\u2010isolated CAKUT, respectively.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>pCNVs comprise a significant proportion of genetic diagnostic findings in prenatal CAKUT, most commonly detected in fetuses with isolated HEK, MCDK, renal agenesis, and non\u2010isolated CAKUT. Monogenic causes should be considered when karyotyping and CMA are nondiagnostic.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.6674","type":"journal-article","created":{"date-parts":[[2024,10,4]],"date-time":"2024-10-04T03:49:01Z","timestamp":1728013741000},"page":"1451-1461","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Contribution of Genomic Imbalance in Prenatal Congenital Anomalies of the Kidney and Urinary Tract: A Multi\u2010Center Cohort Study"],"prefix":"10.1002","volume":"44","author":[{"given":"Keying","family":"Li","sequence":"first","affiliation":[{"name":"Department of Obstetrics &amp; Gynaecology The Chinese University of Hong Kong  Hong Kong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huilin","family":"Wang","sequence":"additional","affiliation":[{"name":"Maternal\u2010Fetal Medicine Institute Bao'an Maternity and Child Health Hospital Affiliated to Jinan University School of Medicine Key Laboratory of Birth Defects Research Birth Defects Prevention Research and Transformation Team  Shenzhen China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew Hoi Kin","family":"Chau","sequence":"additional","affiliation":[{"name":"Department of Obstetrics &amp; Gynaecology The Chinese University of Hong Kong  Hong Kong China"},{"name":"Shenzhen Research Institute The Chinese University of Hong Kong  Shenzhen China"},{"name":"The Chinese University of Hong Kong\u2010Baylor College of Medicine Joint Center for Medical Genetics  Hong Kong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zirui","family":"Dong","sequence":"additional","affiliation":[{"name":"Department of Obstetrics &amp; Gynaecology The Chinese University of Hong Kong  Hong Kong China"},{"name":"Shenzhen Research Institute The Chinese University of Hong Kong  Shenzhen China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5712-1968","authenticated-orcid":false,"given":"Ye","family":"Cao","sequence":"additional","affiliation":[{"name":"Department of Obstetrics &amp; Gynaecology The Chinese University of Hong Kong  Hong Kong China"},{"name":"Shenzhen Research Institute The Chinese University of Hong Kong  Shenzhen China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu","family":"Zheng","sequence":"additional","affiliation":[{"name":"Department of Obstetrics &amp; Gynaecology The Chinese University of Hong Kong  Hong Kong China"},{"name":"Shenzhen Research Institute The Chinese University of Hong Kong  Shenzhen China"},{"name":"The Chinese University of Hong Kong\u2010Baylor College of Medicine Joint Center for Medical Genetics  Hong Kong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9153-0343","authenticated-orcid":false,"given":"Tak Yeung","family":"Leung","sequence":"additional","affiliation":[{"name":"Department of Obstetrics &amp; Gynaecology The Chinese University of Hong Kong  Hong Kong China"},{"name":"Shenzhen Research Institute The Chinese University of Hong Kong  Shenzhen China"},{"name":"The Chinese University of Hong Kong\u2010Baylor College of Medicine Joint Center for Medical Genetics  Hong Kong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3616-6200","authenticated-orcid":false,"given":"Kwong Wai","family":"Choy","sequence":"additional","affiliation":[{"name":"Department of Obstetrics &amp; 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