{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,23]],"date-time":"2026-06-23T13:22:46Z","timestamp":1782220966402,"version":"3.54.5"},"reference-count":34,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2023,8,10]],"date-time":"2023-08-10T00:00:00Z","timestamp":1691625600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"<jats:sec><jats:title>Introduction<\/jats:title><jats:p>Prenatal sonographic evidence of large, echogenic, or cystic kidneys may indicate any one of a diverse set of disorders including renal ciliopathies, congenital anomalies of the kidney and urinary tract (CAKUT), or multisystem syndromic disorders. Systematic transition planning for these infants from <jats:italic>in utero<\/jats:italic> detection to post-natal nephrology management remains to be established.<\/jats:p><\/jats:sec><jats:sec><jats:title>Aim of the work<\/jats:title><jats:p>We sought to evaluate the presentation and transition planning for infants identified <jats:italic>in utero<\/jats:italic> with bilateral renal cystic disease.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Our retrospective observational study identified 72 pregnancies with bilateral renal cystic disease in a single center from 2012 to 2022; 13 of which had a confirmed renal ciliopathy disorder. Clinical and imaging data, genetic test results, and documentation of postnatal follow-up were collected and compared.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In our suspected renal ciliopathy cohort (<jats:italic>n<\/jats:italic>\u2009=\u200917), autosomal recessive polycystic disease (ARPKD) was the most common diagnosis (<jats:italic>n<\/jats:italic>\u2009=\u20094), followed by Bardet-Biedl syndrome (BBS, <jats:italic>n<\/jats:italic>\u2009=\u20093), autosomal dominant polycystic disease (ADPKD, <jats:italic>n<\/jats:italic>\u2009=\u20092), <jats:italic>HNF1B<\/jats:italic>-related disease (<jats:italic>n<\/jats:italic>\u2009=\u20092), and Meckel-Gruber syndrome (MKS, <jats:italic>n<\/jats:italic>\u2009=\u20092). Four cases were not genetically resolved. Anhydramnios was observed primarily in fetuses with ARPKD (<jats:italic>n<\/jats:italic>\u2009=\u20093). Polydactyly (<jats:italic>n<\/jats:italic>\u2009=\u20093) was detected only in patients with BBS and MKS, cardiac defects (<jats:italic>n<\/jats:italic>\u2009=\u20096) were identified in fetuses with ARPKD (<jats:italic>n<\/jats:italic>\u2009=\u20093), MKS (<jats:italic>n<\/jats:italic>\u2009=\u20092), and BBS (<jats:italic>n<\/jats:italic>\u2009=\u20091), and abnormalities of the CNS (<jats:italic>n<\/jats:italic>\u2009=\u20095) were observed in patients with ARPKD (<jats:italic>n<\/jats:italic>\u2009=\u20091), MKS (<jats:italic>n<\/jats:italic>\u2009=\u20092), and BBS (<jats:italic>n<\/jats:italic>\u2009=\u20093). In general, documentation of transition planning was incomplete, with post-natal nephrology management plans established primarily for infants with renal ciliopathies (<jats:italic>n<\/jats:italic>\u2009=\u200911\/13; 85%).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Prenatal sonographic detection of echogenic kidneys should raise suspicion for a broad range of disorders, including renal ciliopathies and CAKUT. Multicenter collaboration will be required to standardize the implementation of transition guidelines for comprehensive nephrology management of infants identified <jats:italic>in utero<\/jats:italic> with enlarged, echogenic kidneys.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fped.2023.1243504","type":"journal-article","created":{"date-parts":[[2023,8,10]],"date-time":"2023-08-10T20:15:02Z","timestamp":1691698502000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":4,"title":["Fetal renal cystic disease and post-natal follow up\u2014a single center 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