{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,4]],"date-time":"2026-11-04T00:41:51Z","timestamp":1793752911266,"version":"4.6.1"},"reference-count":56,"publisher":"American Academy of Pediatrics (AAP)","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2009,10,1]]},"abstract":"<jats:p>OBJECTIVE: The goal was to investigate the prevalence of renal and urinary tract anomalies (RUTAs) in a Down syndrome (DS) population.<\/jats:p>\n               <jats:p>METHODS: Data were obtained from the New York State Congenital Malformation Registry (NYS-CMR) in this retrospective cohort study. The occurrence of RUTAs was assessed for children with and without DS who were born in NYS between 1992 and 2004. Odds ratios (ORs) with 95% confidence intervals (CIs) were calculated for each malformation.<\/jats:p>\n               <jats:p>RESULTS: Between 1992 and 2004, 3832 children with DS and 3411833 without DS were born in NYS. The prevalence of RUTAs in the DS population was 3.2%, compared with 0.7% in the NYS population (OR: 4.5 [95% CI: 3.8\u20135.4]). Children with DS had significantly increased risks of anterior urethral obstruction (OR: 29.7 [95% CI: 4.0\u2013217.7]), cystic dysplastic kidney (OR: 4.5 [95% CI: 1.5\u201314.1]), hydronephrosis (OR: 8.7 [95% CI: 6.8\u201311.0]), hydroureter (OR: 8.5 [95% CI: 3.5\u201320.4]), hypospadias (OR: 2.0 [95% CI: 1.4\u20132.9]), posterior urethral valves (OR: 7.1 [95% CI: 1.8\u201328.8]), prune belly syndrome (OR: 11.9 [95% CI: 1.6\u201385.4]), and renal agenesis (OR: 5.4 [95% CI: 2.8\u201310.4]). There was no significantly increased risk of ectopic kidney (OR: 1.6 [95% CI: 0.2\u201311.2]) or ureteropelvic junction obstruction (OR: 1.4 [95% CI: 0.2\u20139.9]) in the DS population.<\/jats:p>\n               <jats:p>CONCLUSION: Children with DS have significantly increased risks of RUTAs.<\/jats:p>","DOI":"10.1542\/peds.2009-0181","type":"journal-article","created":{"date-parts":[[2009,9,15]],"date-time":"2009-09-15T00:34:47Z","timestamp":1252974887000},"page":"e615-e621","source":"Crossref","is-referenced-by-count":69,"title":["Increased Prevalence of Renal and Urinary Tract Anomalies in Children With Down Syndrome"],"prefix":"10.1542","volume":"124","author":[{"given":"Juan C.","family":"Kupferman","sequence":"first","affiliation":[{"name":"Divisions of Pediatric Nephrology and Hypertension"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charlotte M.","family":"Druschel","sequence":"additional","affiliation":[{"name":"New York State Congenital Malformation Registry, New York State Department of Health, Troy, New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriel S.","family":"Kupchik","sequence":"additional","affiliation":[{"name":"Genetics, Maimonides Infants and Children's Hospital, Brooklyn, New York"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"417","published-online":{"date-parts":[[2009,10,1]]},"reference":[{"key":"2021120905051545000_R1","doi-asserted-by":"crossref","unstructured":"Torfs CP, Christianson RE. Anomalies in Down syndrome individuals in a large population-based registry. Am J Med Genet.\u20081998;77(5):431\u2013438","DOI":"10.1002\/(SICI)1096-8628(19980605)77:5<431::AID-AJMG15>3.0.CO;2-J"},{"key":"2021120905051545000_R2","doi-asserted-by":"crossref","unstructured":"Cleves MA, Hobbs CA, Cleves PA, Tilford JM, Bird TM, Robbins JM. Congenital defects among liveborn infants with Down syndrome. Birth Defects Res A Clin Mol Teratol.\u20082007;79(9):657\u2013663","DOI":"10.1002\/bdra.20393"},{"key":"2021120905051545000_R3","doi-asserted-by":"crossref","unstructured":"Ka\u0308lle\u0301n B, Mastroiacovo P, Robert E. Major congenital malformations in Down syndrome. Am J Med Genet.\u20081996;65(2):160\u2013166","DOI":"10.1002\/(SICI)1096-8628(19961016)65:2<160::AID-AJMG16>3.0.CO;2-O"},{"key":"2021120905051545000_R4","doi-asserted-by":"crossref","unstructured":"Kupferman JC, Stewart CL, Kaskel FJ, Fine RN. Posterior urethral valves in patients with Down syndrome. Pediatr Nephrol.\u20081996;10(2):143\u2013146","DOI":"10.1007\/BF00862055"},{"key":"2021120905051545000_R5","doi-asserted-by":"crossref","unstructured":"Warkany J, Passarge E, Smith LB. Congenital malformations in autosomal trisomy syndromes. Am J Dis Child.\u20081966;112(6):502\u2013517","DOI":"10.1001\/archpedi.1966.02090150046002"},{"key":"2021120905051545000_R6","doi-asserted-by":"crossref","unstructured":"Egli F, Stalder G. Malformations of kidney and urinary tract in common chromosomal aberrations, part I: clinical studies. Humangenetik.\u20081973;18(1):1\u201315","DOI":"10.1007\/BF00279026"},{"key":"2021120905051545000_R7","doi-asserted-by":"crossref","unstructured":"Kravtzova GI, Lazjuk GI, Lurie IW. The malformations of the urinary system in autosomal disorders. Virchows Arch A Pathol Anat Histol.\u20081975;368(2):167\u2013178","DOI":"10.1007\/BF00432416"},{"key":"2021120905051545000_R8","doi-asserted-by":"crossref","unstructured":"American Academy of Pediatrics, Committee on Genetics. Health supervision for children with Down syndrome. Pediatrics.\u20082001;107(2):442\u2013449","DOI":"10.1542\/peds.107.2.442"},{"key":"2021120905051545000_R9","unstructured":"New York State Department of Health. Congenital Malformations Registry Summary Report. Troy, NY: New York State Department of Health; 2007. Available at: www.health.state.ny.us\/diseases\/congenital_malformations\/2002_2004\/docs\/07report.pdf. Accessed December 10, 2008"},{"key":"2021120905051545000_R10","unstructured":"Centers for Disease Control and Prevention. Down syndrome prevalence at birth: United States, 1983\u20131990. MMWR Morb Mortal Wkly Rep.\u20081994;43(33):617\u2013622"},{"key":"2021120905051545000_R11","unstructured":"Druschel CM, Hughes JP, Olsen CL. Mortality among infants with congenital malformations in New York State: 1983 to 1988. Public Health Rep.\u20081996;111(4):359\u2013365"},{"key":"2021120905051545000_R12","doi-asserted-by":"crossref","unstructured":"Olsen CL, Hughes JP, Youngblood LG, Sharpe-Stimac M. The epidemiology of holoprosencephaly and phenotypic characteristics of affected children: New York State 1984\u20131989. Am J Med Genet.\u20081997;73(2):217\u2013226","DOI":"10.1002\/(SICI)1096-8628(19971212)73:2<217::AID-AJMG20>3.0.CO;2-S"},{"key":"2021120905051545000_R13","doi-asserted-by":"crossref","unstructured":"Wang Y, Sharpe-Stimac M, Cross PK, Druschel CM, Hwang SA. Improving case ascertainment of a population-based birth defects registry in New York State using hospital discharge data. Birth Defects Res A Clin Mol Teratol.\u20082005;73(10):663\u2013668","DOI":"10.1002\/bdra.20208"},{"key":"2021120905051545000_R14","doi-asserted-by":"crossref","unstructured":"Kumar J, Gordillo R, Kaskel FJ, Druschel CM, Woroniecki RP. Increased prevalence of renal and urinary tract anomalies in children with congenital hypothyroidism. J Pediatr.\u20082009;154(2):263\u2013266","DOI":"10.1016\/j.jpeds.2008.08.023"},{"key":"2021120905051545000_R15","doi-asserted-by":"crossref","unstructured":"Yoon PW, Rasmussen SA, Lynberg MC, et al. The National Birth Defects Prevention Study. Public Health Rep.\u20082001;116(suppl 1):32\u201340","DOI":"10.1093\/phr\/116.S1.32"},{"key":"2021120905051545000_R16","doi-asserted-by":"crossref","unstructured":"Freeman SB, Allen EG, Oxford-Wright CL, et al. The National Down Syndrome Project: design and implementation. 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Am J Kidney Dis.\u20081998;31(2):329\u2013335","DOI":"10.1053\/ajkd.1998.v31.pm9469506"},{"key":"2021120905051545000_R24","doi-asserted-by":"crossref","unstructured":"Lenz S, Lund-Hansen T, Bang J, Christensen E. A possible prenatal evaluation of renal function by amino acid analysis on fetal urine. Prenat Diagn.\u20081985;5(4):259\u2013267","DOI":"10.1002\/pd.1970050403"},{"key":"2021120905051545000_R25","doi-asserted-by":"crossref","unstructured":"Ahmed S. Vesicoureteric reflux in Down syndrome: poor prognosis. Aust N Z J Surg.\u20081990;60(2):113\u2013116","DOI":"10.1111\/ans.1990.60.2.113"},{"key":"2021120905051545000_R26","doi-asserted-by":"crossref","unstructured":"Webb N, Hebert D, Arbus G. Renal replacement therapy in Down's syndrome. Pediatr Nephrol.\u20081993;7(6):771","DOI":"10.1007\/BF01213350"},{"key":"2021120905051545000_R27","doi-asserted-by":"crossref","unstructured":"Bielek J, Carvajal-Busslinger MI, Bianchetti MG. Posterior urethral valves in trisomy 21. 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Biol Neonat.\u20081967;11(3):248\u2013260","DOI":"10.1159\/000240070"},{"key":"2021120905051545000_R39","unstructured":"Ozer FL. Kidney malformations in mongolism. Birth Defects Orig Artic Ser.\u20081974;10(7)"},{"key":"2021120905051545000_R40","doi-asserted-by":"crossref","unstructured":"Lang DJ, Van Dyke DC, Fran Heide RN, Lowe PL. Hypospadias and urethral abnormalities in Down syndrome. Clin Pediatr (Phila).\u20081987;26(1):40\u201342","DOI":"10.1177\/000992288702600107"},{"key":"2021120905051545000_R41","doi-asserted-by":"crossref","unstructured":"Curry CJR, Jensen K, Holland J, Miller L, Hall BD. The Potter sequence: a clinical analysis of 80 cases. Am J Med Genet.\u20081984;19(4):679\u2013702","DOI":"10.1002\/ajmg.1320190408"},{"key":"2021120905051545000_R42","unstructured":"Insunza A, Gonza\u0301lez F, Guzma\u0301n E, et al. Potter syndrome caused by bilateral renal agenesis and duodenal atresia [in Spanish]. 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