Bladder exstrophy: An epidemiologic study from the International Clearinghouse for Birth Defects Surveillance and Research, and an overview of the literature

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

Volumn 157, Issue 4, 2011, Pages 321-332

  Siffel, Csaba ^a   Correa, Adolfo ^a   Amar, Emmanuelle ^b   Bakker, Marian K ^c   Bermejo Sánchez, Eva ^d,e,f   Bianca, Sebastiano ^g   Castilla, Eduardo E ^h,i,aa   Clementi, Maurizio ^j   Cocchi, Guido ^k   Csáky Szunyogh, Melinda ^l   Feldkamp, Marcia L ^m,n   Landau, Danielle ^o   Leoncini, Emanuele ^p   Li, Zhu ^q   Lowry, R Brian ^r   Marengo, Lisa K ^s   Mastroiacovo, Pierpaolo ^p   Morgan, Margery ^t   Mutchinick, Osvaldo M ^u   Pierini, Anna ^v   Rissmann, Anke ^w   Ritvanen, Annukka ^x   Scarano, Gioacchino ^y   Szabova, Elena ^z   Olney, Richard S ^a   more..

^a NATIONAL CENTER ON BIRTH DEFECTS AND DEVELOPMENTAL DISABILITIES   (United States)

^b Rhone Alps Registry of Birth Defects REMERA   (France)

^c UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^d Instituto de Salud Carlos III   (Spain)

^e INSTITUTO DE SALUD CARLOS III   (Spain)

^f CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^g Centro di Consulenza Genetica e di Teratologia della Riproduzione   (Italy)

^h INAGEMP Instituto Nacional de Genetica Medica Populacional   (Brazil)

ⁱ INSTITUTO OSWALDO CRUZ   (Brazil)

^j UNIVERSITY OF PADOVA   (Italy)

^k UNIVERSITY OF BOLOGNA   (Italy)

^l National Center for Healthcare Audit and Inspection   (Hungary)

^m UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

ⁿ UTAH DEPARTMENT OF HEALTH   (United States)

^o BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

^p Centre of the International Clearinghouse for Birth Defects Surveillance and Research   (Italy)

^q PEKING UNIVERSITY HEALTH SCIENCE CENTER   (China)

^r Alberta Congenital Anomalies Surveillance System   (Canada)

^s TEXAS DEPARTMENT OF STATE HEALTH SERVICES   (United States)

^t SINGLETON HOSPITAL   (United Kingdom)

^u INSTITUTO NACIONAL DE CIENCIAS MÉDICAS Y NUTRICIÓN SALVADOR ZUBIRÁN   (Mexico)

^v FONDAZIONE TOSCANA GABRIELE MONASTERIO   (Italy)

^w OTTO VON GUERICKE UNIVERSITY   (Germany)

^x NATIONAL PUBLIC HEALTH INSTITUTE   (Finland)

^y G RUMMO HOSPITAL   (Italy)

^z SLOVAK MEDICAL UNIVERSITY   (Slovakia)

^aa CEMIC   (Argentina)

more..

Author keywords

Bladder exstrophy; Maternal age; Prevalence; Sex ratio

Indexed keywords

ANUS DISEASE; ARTICLE; BIRTH DEFECT; BIRTH WEIGHT; BLADDER EXSTROPHY; CONGENITAL HEART MALFORMATION; CONGENITAL MALFORMATION; DISEASE SURVEILLANCE; EMBRYOLOGY; FEMALE; HUMAN; KIDNEY DISEASE; LIVE BIRTH; MAJOR CLINICAL STUDY; MALE; MATERNAL AGE; MULTIPLE CONGENITAL ANOMALY; NEURAL TUBE DEFECT; NEWBORN; OMPHALOCELE; PRIORITY JOURNAL;

AMERICAS; AUSTRALIA; BIOMEDICAL RESEARCH; BLADDER EXSTROPHY; CHINA; CONGENITAL ABNORMALITIES; EPIDEMIOLOGIC STUDIES; EUROPE; FEMALE; HUMANS; INFANT, NEWBORN; INTERNATIONAL COOPERATION; MALE; MATERNAL AGE; POPULATION SURVEILLANCE; PREGNANCY; PREVALENCE; REGISTRIES; SEX RATIO;

EID: 80054861885     PISSN: 15524868     EISSN: 15524876     Source Type: Journal    
DOI: 10.1002/ajmg.c.30316     Document Type: Article

References (73)

1. Ballantyne JW. 1894. The teratological records of Chaldea. Teratologia 1: 132.
2. Ballantyne JW. 1904. Manual of antenatal pathology and hygiene. The embryo. Edinburgh: William Green & Sons.
3. Baird AD, Nelson CP, Gearhart JP. 2007. Modern staged repair of bladder exstrophy: A contemporary series. J Pediatr Urol 3: 311-315.
4. Ben-Chaim J, Docimo SG, Jeffs RD, Gearhart JP. 1996a. Bladder exstrophy from childhood into adult life. J R Soc Med 89: 39-46.
5. Ben-Chaim J, Jeffs RD, Reiner WG, Gearhart JP. 1996b. The outcome of patients with classic bladder exstrophy in adult life. J Urol 155: 1251-1252.
6. Bird TM, Hobbs CA, Cleves MA, Tilford JM, Robbins JM. 2006. National rates of birth defects among hospitalized newborns. Birth Defects Res A Clin Mol Teratol 76(11): 762-769.
7. Bourke J, Bower C, Blair E, Charles A, Knuiman M. 2005. The effect of terminations of pregnancy for fetal abnormalities on trends in mortality to one year of age in Western Australia. Paediatr Perinat Epidemiol 19(4): 284-293.
8. Boyadjiev SA, Dodson JL, Radford CL, Ashrafi GH, Beaty TH, Mathews RI, Broman KW, Gearhart JP. 2004. Clinical and molecular characterization of the bladder exstrophy-epispadias complex: Analysis of 232 families. BJU Int 94(9): 1337-1343.
9. Catti M, Paccalin C, Rudigoz RC, Mouricand P. 2006. Quality of life for adult women born with bladder and cloacal exstrophy: A long-term follow up. J Pediatr Urol 2: 16-22.
10. Cadeddu JA, Benson JE, Silver RI, Lakshmanan Y, Jeffs RD, Gearhart JP. 1997. Spinal abnormalities in classic bladder exstrophy. Br J Urol 79(6): 975-978.
11. Carey JC, Greenbaum B, Hall BD. 1978. The OEIS complex (omphalocele, exstrophy, imperforate anus, spinal defects). Birth Defects Orig Artic Ser XIV: 253-268.
12. Carey JC. 2001. Exstrophy of the cloaca and the OEIS complex: One and the same. Am J Med Genet 99(4): 270.
13. Castilla EE, Mastroiacovo P. 2011. Very rare defects: What can we learn? Am J Med Genet Part C XXXC: pp-pp.
14. Caton AR, Bloom A, Druschel CM, Kirby RS. 2007. Epidemiology of bladder and cloacal exstrophies in New York State, 1983-1999. Birth Defects Res A Clin Mol Teratol 79(11): 781-787.
15. Cromie WJ, Lee K, Houde K, Holmes L. 2001. Implications of prenatal ultrasound screening in the incidence of major genitourinary malformations. J Urol 165(5): 1677-1680.
16. Duffy PG. 1996. Bladder exstrophy. Semin Pediatr Surg 5(2): 129-132.
17. Ebert A, Scheuering S, Schott G, Roesch WH. 2005. Psychosocial and psychosexual development in childhood and adolescence within the exstrophy-epispadias complex. J Urol 174(3): 1094-1098.
18. Ebert AK, Bals-Pratsch M, Seifert B, Reutter H, Rösch WH. 2008. Genital and reproductive function in males after functional reconstruction of the exstrophy-epispadias complex-Long-term results. Urology 72(3): 566-569; discussion 569-570.
19. Ebert AK, Reutter H, Ludwig M, Rösch WH. 2009. The exstrophy-epispadias complex. Orphanet J Rare Dis 4: 23.
20. Ebert AK, Falkert A, Brandl R, Hirschfelder H, Koller M, Rösch WH. 2010a. Pelvic-floor imaging using three-dimensional ultrasonography and magnetic resonance imaging in the long term follow-up of the bladder-exstrophy-epispadias complex. BJU Int 105(2): 248-253.
21. Ebert AK, Schott G, Bals-Pratsch M, Seifert B, Rösch WH. 2010b. Long-term follow-up of male patients after reconstruction of the bladder-exstrophy-epispadias complex: Psychosocial status, continence, renal and genital function. J Pediatr Urol 6(1): 6-10.
22. EUROCAT. 2011. EUROCAT Website Database: (data uploaded 12/04/2011). Accessed on June 28, 2011.
23. Evangelidis A, Murphy JP, Gatti JM. 2004. Prenatal diagnosis of bladder exstrophy by 3-dimensional ultrasound. J Urol 172: 1111.
24. Feldkamp ML, Botto LD, Krikov S, Amar E, Bakker MK, Bianca S, Canfield MA, Castilla EE, Clementi M, Siffel C, Csaky-Szunyogh M, Merlob P, Leoncini E, Li Z, Lowry RB, Bermejo-Sánchez E, Mastroiacovo P, Morgan M, Mutchinick OM, Rissmann A, Ritvanen A, Carey JC. 2011. Cloacal exstrophy: An epidemiologic study from the international clearinghouse of birth defects surveillance and research. Am J Med Genet Part C XXXC: pp-pp.
25. Fretts RC. 2005. Etiology and prevention of stillbirth. Am J Obstet Gynecol 193(6): 1923-1935.
26. Gambhir L, Höller T, Müller M, Schott G, Vogt H, Detlefsen B, Ebert AK, Fisch M, Beaudoin S, Stein R, Boyadjiev SA, Gearhart JP, Rösch W, Utsch B, Boemers TM, Reutter H, Ludwig M. 2008. Epidemiological survey of 214 families with bladder exstrophy-epispadias complex. J Urol 179(4): 1539-1543.
27. Garne E, Loane M, Dolk H, De Vigan C, Scarano G, Tucker D, Stoll C, Gener B, Pierini A, Nelen V, Rösch C, Gillerot Y, Feijoo M, Tincheva R, Queisser-Luft A, Addor MC, Mosquera C, Gatt M, Barisic I. 2005. Prenatal diagnosis of severe structural congenital malformations in Europe. Ultrasound Obstet Gynecol 25(1): 6-11.
28. Gearhart JP. 2002. Exstrophy, epispadias, and other bladder anomalies. In: Walsh PC, Wein AJ, Vaughan ED, Retik AB, editors. Campbell's urology, 8th edition. Philadelphia: Saunders. pp 2136-2196.
29. Gidai J, Acs N, Bánhidy F, Czeizel AE. 2008. No association found between use of very large doses of diazepam by 112 pregnant women for a suicide attempt and congenital abnormalities in their offspring. Toxicol Ind Health 24(1-2): 29-39.
30. Goyal A, Fishwick J, Hurrell R, Cervellione RM, Dickson AP. 2011. Antenatal diagnosis of bladder/cloacal exstrophy: Challenges and possible solutions. J Pediatr Urol 2011. Jun 3 [Epub ahead of print]. DOI: 10.1016/j.jpurol.2011.05.003.
31. Grady RW, Carr MC, Mitchell ME. 1999. Complete primary closure of bladder exstrophy. Epispadias and bladder exstrophy repair. Urol Clin North Am 26: 95-109, viii.
32. Hendren WH. 1998. Cloaca, the most severe degree of imperforate anus: Experience with 195 cases. Ann Surg 228: 331-346.
33. Higgins CC. 1962. Exstrophy of the bladder: Report of 158 cases. Am Surg 28: 99.
34. ICBDMS. 1987. Epidemiology of bladder exstrophy and epispadias: A communication from the International Clearinghouse for Birth Defects Monitoring Systems. Teratology 36(2): 221-227.
35. ICBDSR. 2009. Annual Report 2009 with data for 2007. The Centre of the International Clearinghouse for Birth Defects Surveillance and Research, Rome, Italy.
36. Ives E, Coffey R, Carter CO. 1980. A family study of bladder exstrophy. J Med Genet 17(2): 139-141.
37. James LM, Erickson JD, McClearn AB. 1994. Prevalence of birth defects. In: Wilcox LS, Marks JS, editors. From data to action-CDC's Public Health Surveillance for Women, Infants, and Children. Atlanta: Centers for Disease Control and Prevention. pp 203-216.
38. Jeffs RD. 1987. Exstrophy, epispadias, and cloacal and urogenital sinus abnormalities. Pediatr Clin North Am 34(5): 1233-1257.
39. Jones KL. 2006. Smith's recognizable patterns of human malformations. Philadelphia: Elsevier Saunders. p 626.
40. Jordan M, Poole CA, Fogel BJ. 1968. Exstrophy of the bladder associated with congenital rubella syndrome. J Fla Med Assoc 55: 98-99.
41. Källén K, Castilla EE, Robert E, Mastroiacovo P, Källén B. 2000. OEIS complex-A population study. Am J Med Genet 92(1): 62-68.
42. Kandzari SJ, Majid A, Orteza AM, Milam DF. 1974. Exstrophy of urinary bladder complicated by adenocarcinoma. Urology 3(4): 496-498.
43. Keppler-Noreuil K, Gorton S, Foo F, Yankowitz J, Keegan C. 2007. Prenatal ascertainment of OEIS complex/cloacal exstrophy-15 new cases and literature review. Am J Med Genet Part A 143A(18): 2122-2128.
44. Lattimer JK, Smith MJV. 1966. Exstrophy closure: A followup on 70 cases. J Urol 95: 356.
45. Lewis S, McGillivray G, Rowlands S, Halliday J. 2010. Perinatal outcome following suspected fetal abnormality when managed through a fetal management unit. Prenat Diagn 30(2): 149-155.
46. Lizcano-Gil LA, Garcia-Cruz D, Sanchez-Corona J. 1995. Omphalocele-exstrophy-imperforate-anus-spina bifida (OEIS) complex in a male prenatally exposed to diazepam. Arch Med Res 26: 95-96.
47. Ludwig M, Ching B, Reutter H, Boyadjiev SA. 2009. The bladder exstrophy-epispadias complex. Birth Defects Res Part A Clin Mol Teratol 85(6): 509-522.
48. Marshall VF, Muecke EC. 1962. Variations in exstrophy of the bladder. J Urol 88: 766.
49. Martínez-Frías ML, Bermejo E, Rodriguez-Pinilla E, Frías JL. 2001. Exstrophy of the cloaca and exstrophy of the bladder: Two different expressions of a primary developmental field defect. Am J Med Genet 99(4): 261-269.
50. Messelink EJ, Aronson DC, Knuist M, Heij HA, Vos A. 1994. Four cases of bladder exstrophy in two families. J Med Genet 31(6): 490-492.
51. Mildenberger H, Kluth D, Dziuba M. 1988. Embryology of bladder exstrophy. J Pediatr Surg 23(2): 166-170.
52. Nelson CP, Dunn RL, Wei JT. 2005. Contemporary epidemiology of bladder exstrophy in the United States. J Urol 173(5): 1728-1731.
53. Nye JS, Hayes EA, Amendola M, Vaughn D, Charrow J, McLone DG, Speer MC, Nance WE, Pandya A. 2000. Myelocystocele-cloacal exstrophy in a pedigree with a mitochondrial 12S rRNA mutation, aminoglycoside induced deafness, pigmentary disturbances, and spinal anomalies. Teratology 61: 165-171.
54. Oostra RJ, Baljet B, Verbeeten BW, Hennekam RC. 1998. Congenital anomalies in the teratological collection of Museum Vrolik in Amsterdam, The Netherlands. III: Primary field defects, sequences, and other complex anomalies. Am J Med Genet 80(1): 46-59.
55. Orioli IM, Castilla EE. 2000. Epidemiological assessment of misoprostol teratogenicity. BJOG 107(4): 519-523.
56. Pinette MG, Pan YQ, Pinette SG, Stubblefield PG, Blackstone J. 1996. Prenatal diagnosis of fetal bladder and cloacal exstrophy by ultrasound. A report of three cases. J Reprod Med 41(2): 132-134.
57. Reutter H, Shapiro E, Gruen JR. 2003. Seven new cases of familial isolated bladder exstrophy and epispadias complex (BEEC) and review of the literature. Am J Med Genet Part A 120A(2): 215-221.
58. Reutter H, Thauvin-Robinet C, Boemers TM, Rösch WH, Ludwig M. 2006. Bladder exstrophy-epispadias complex: Investigation of suppressor of variegation, enhancer of zeste and Thrithorax (SET) as a candidate gene in a large cohort of patients. Scand J Urol Nephrol 40: 221-224.
59. Reutter H, Hoischen A, Ludwig M, Stein R, Radlwimmer B, Engels H, Wolffenbuttel KP, Weber RG. 2007a. Genome-wide analysis for micro-aberrations in familial exstrophy of the bladder using array-based comparative genome hybridization. BJU Int 100: 646-650.
60. Reutter H, Qi L, Gearhart JP, Boemers T, Ebert AK, Rösch WH, Ludwig M, Boyadjiev SA. 2007b. Concordance analyses of twins with bladder exstrophy-epispadias complex suggest genetic etiology. Am J Med Genet Part A 143A(22): 2751-2756.
61. Rickham PP. 1961. The incidence and treatment of ectopia vesicae. Proc R Soc Med 54: 389-392.
62. Robin NH, Neidich JA, Bason LD, Whitaker LA, McDonald-McGinn D, Hunter J, Snyder HM III, Zackai EH. 1996. Frontonasal malformation and cloacal exstrophy: A previously unreported association. Am J Med Genet 61(1): 75-78.
63. Rösch WH, Ebert AK. 2007. Development of treatment for exstrophy-epispadias in Germany. Urologe A 46(12): 1691-1696.
64. Sadler TW. 2006. Langman's medical embryology, 10th edition. Philadelphia: Lippincott Williams and Wilkins.
65. Shapiro E, Lepor H, Jeffs RD. 1984. The inheritance of the exstrophy-epispadias complex. J Urol 32(2): 308-310.
66. Smeulders N, Woodhouse CR. 2001. Neoplasia in adult exstrophy patients. BJU Int 87(7): 623-628.
67. StataCorp. 2007. Stata Statistical Software: Release 10. College Station, TX: StataCorp LP.
68. Stevenson RE, Hall JG. 2006. Human malformations and related anomalies, 2nd edition. New York: Oxford University Press. pp 1232-1234.
69. Stoll C, Alembik Y, Dott B, Roth MP. 2002. Impact of prenatal diagnosis on livebirth prevalence of children with congenital anomalies. Ann Genet 45(3): 115-121.
70. Thauvin-Robinet C, Faivre L, Cusin V, Khau Van Kien P, Callier P, Parker KL, Fellous M, Borgnon J, Gounot E, Huet F, Sapin E, Mugneret F. 2004. Cloacal exstrophy in an infant with 9q34.1-qter deletion resulting from a de novo unbalanced translocation between chromosome 9q and Yq. Am J Med Genet Part A 126A: 303-307.
71. Wakefield MR, Steinbecker KM, Krambeck AE, Teague JL. 2002. Primary surgical repair of combined gastroschisis and bladder exstrophy. J Pediatr Surg 37(11): 1634-1636.
72. Wood HM, Babineau D, Gearhart JP. 2007. In vitro fertilization and the cloacal/bladder exstrophy-epispadias complex: A continuing association. J Pediatr Urol 3(4): 305-310.
73. Yang P, Khoury MJ, Stewart WF, Beaty TH, Chee E, Beatty JC, Diamond EL, Gordis L. 1994. Comparative epidemiology of selected midline congenital abnormalities. Genet Epidemiol 11: 141-154.