BACKGROUND: Bladder exstrophy (BE) and cloacal exstrophy (CE) are rare birth defects that have been reported to occur in 1:30,000-50,000 and 1:200,000-400,000 live births. Disagreement exists as to whether they comprise two distinct disorders or are part of a spectrum. We examined epidemiologic trends and risk factors for BE and CE in a large population-based dataset. METHODS: Potential cases were identified in the New York State (NYS) Congenital Malformations Registry. When nonspecific codes for CE were reported, narrative descriptions were reviewed for classification. Birth certificate data were analyzed with descriptive statistics and Poisson regression was used to calculate crude (PR) and adjusted prevalence ratios (aPR) and 95% confidence intervals (CI). RESULTS: In NYS from 1983 through 1999, 95 BE cases and 29 CE cases were identified for a live-birth prevalence of 2.1 and 0.6 per 100,000 live births. BE showed a statistically significant downward linear trend by year. Factors associated with BE included summer conception (vs. winter, aPR 2.46, CI 1.19-5.10), white, non-Hispanic maternal race/ethnicity (vs. black non-Hispanic, aPR 3.20, CI 1.20-8.52), and male sex (female vs. male, aPR 0.53, CI 0.33-0.87). Factors associated with CE included preterm low birth weight birth (aPR 14.55, CI 5.28-40.07), multiple birth (aPR 6.68, CI 1.19-23.27), non-New York City residence (aPR 3.27, CI 1.04-10.22), and female sex (aPR 2.57, CI 1.00-6.64). Infant mortality was greater in the CE group. CONCLUSIONS: The epidemiology suggests different risk factor patterns for BE and CE. Classification of BE and CE is difficult due to the nonspecific coding.
BACKGROUND: Bladder exstrophy (BE) and cloacal exstrophy (CE) are rare birth defects that have been reported to occur in 1:30,000-50,000 and 1:200,000-400,000 live births. Disagreement exists as to whether they comprise two distinct disorders or are part of a spectrum. We examined epidemiologic trends and risk factors for BE and CE in a large population-based dataset. METHODS: Potential cases were identified in the New York State (NYS) Congenital Malformations Registry. When nonspecific codes for CE were reported, narrative descriptions were reviewed for classification. Birth certificate data were analyzed with descriptive statistics and Poisson regression was used to calculate crude (PR) and adjusted prevalence ratios (aPR) and 95% confidence intervals (CI). RESULTS: In NYS from 1983 through 1999, 95 BE cases and 29 CE cases were identified for a live-birth prevalence of 2.1 and 0.6 per 100,000 live births. BE showed a statistically significant downward linear trend by year. Factors associated with BE included summer conception (vs. winter, aPR 2.46, CI 1.19-5.10), white, non-Hispanic maternal race/ethnicity (vs. black non-Hispanic, aPR 3.20, CI 1.20-8.52), and male sex (female vs. male, aPR 0.53, CI 0.33-0.87). Factors associated with CE included preterm low birth weight birth (aPR 14.55, CI 5.28-40.07), multiple birth (aPR 6.68, CI 1.19-23.27), non-New York City residence (aPR 3.27, CI 1.04-10.22), and female sex (aPR 2.57, CI 1.00-6.64). Infant mortality was greater in the CE group. CONCLUSIONS: The epidemiology suggests different risk factor patterns for BE and CE. Classification of BE and CE is difficult due to the nonspecific coding.
Authors: Csaba Siffel; Adolfo Correa; Emmanuelle Amar; Marian K Bakker; Eva Bermejo-Sánchez; Sebastiano Bianca; Eduardo E Castilla; Maurizio Clementi; Guido Cocchi; Melinda Csáky-Szunyogh; Marcia L Feldkamp; Danielle Landau; Emanuele Leoncini; Zhu Li; R Brian Lowry; Lisa K Marengo; Pierpaolo Mastroiacovo; Margery Morgan; Osvaldo M Mutchinick; Anna Pierini; Anke Rissmann; Annukka Ritvanen; Gioacchino Scarano; Elena Szabova; Richard S Olney Journal: Am J Med Genet C Semin Med Genet Date: 2011-10-14 Impact factor: 3.908
Authors: Heiko Reutter; Simeon A Boyadjiev; Lisa Gambhir; Anne-Karoline Ebert; Wolfgang H Rösch; Raimund Stein; Annette Schröder; Thomas M Boemers; Enrika Bartels; Hannes Vogt; Boris Utsch; Martin Müller; Birte Detlefsen; Nadine Zwink; Sebastian Rogenhofer; Rita Gobet; Goedele M A Beckers; Arend Bökenkamp; Abdol-Mohammad Kajbafzadeh; Enrique Jaureguizar; Markus Draaken; Yegappan Lakshmanan; John P Gearhart; Michael Ludwig; Markus M Nöthen; Ekkehart Jenetzky Journal: J Pediatr Date: 2011-06-16 Impact factor: 4.406
Authors: Saunders T Ching; Carlos R Infante; Wen Du; Amnon Sharir; Sungdae Park; Douglas B Menke; Ophir D Klein Journal: Hum Mol Genet Date: 2018-01-01 Impact factor: 6.150
Authors: Kim M Keppler-Noreuil; Kristin M Conway; Dereck Shen; Anthony J Rhoads; John C Carey; Paul A Romitti Journal: Am J Med Genet A Date: 2017-09-28 Impact factor: 2.802
Authors: Heiko Reutter; Kim Keppler-Noreuil; Catherine E Keegan; Holger Thiele; Gen Yamada; Michael Ludwig Journal: Curr Genomics Date: 2016-02 Impact factor: 2.236
Authors: Marlene Martin; Kristina Rodriguez; Miguel Sánchez-Sauco; Gerardo Zambudio-Carmona; Juan Antonio Ortega-García Journal: J Med Case Rep Date: 2009-03-30
Authors: Carolina J Jorgez; Jill A Rosenfeld; Nathan R Wilken; Hima V Vangapandu; Aysegul Sahin; Dung Pham; Claudia M B Carvalho; Anne Bandholz; Amanda Miller; David D Weaver; Barbara Burton; Deepti Babu; John S Bamforth; Timothy Wilks; Daniel P Flynn; Elizabeth Roeder; Ankita Patel; Sau W Cheung; James R Lupski; Dolores J Lamb Journal: PLoS One Date: 2014-09-09 Impact factor: 3.240