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2030-01-01
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BLADDER EXSTROPHY: AN EPIDEMIOLOGIC STUDY FROM THE INTERNATIONAL CLEARINGHOUSE FOR BIRTH DEFECTS SURVEILLANCE AND RESEARCH, AND AN OVERVIEW OF THE LITERATURE
Siffel, Csaba et al. | Data do documento: 2011
Autor(es)
Siffel, Csaba
Correa, Adolfo
Amar, Emmanuelle
Bakker, Marian K.
Bermejo-Sánchez, Eva
Bianca, Sebastiano
Castilla, Eduardo E.
Clementi, Maurizio
Cocchi, Guido
Csáky-Szunyogh, Melinda
Feldkamp, Marcia L.
Landau, Danielle
Leoncini, Emanuele
Li, Zhu
Lowry, R. Brian
Marengo, Lisa K.
Mastroiacovo, Pierpaolo
Morgan, Margery
Mutchinick, Osvaldo M.
Pierini, Anna
Rissmann, Anke
Ritvanen, Annukka
Scarano, Gioacchino
Szabova, Elena
Olney, Richard S.
Afiliação
Centers for Disease Control and Prevention. Metropolitan Atlanta Congenital Defects Program, National Center on Birth Defects and Developmental Disabilities. Atlanta, Georgia, USA.
Centers for Disease Control and Prevention. Metropolitan Atlanta Congenital Defects Program, National Center on Birth Defects and Developmental Disabilities. Atlanta, Georgia, USA.
Rhone-Alps Registry of Birth Defects REMERA. Lyon, France.
University Medical Center Groningen. Department of Genetics. Eurocat Northern Netherlands. Groningen, The Netherlands.
Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER). Madrid, Spain / Instituto de Salud Carlos III (ISCIII). Centro de Investigación sobre Anomalías Congénitas (CIAC). ECEMC (Spanish Collaborative Study of Congenital Malformations), Madrid, Spain / CIBER de Enfermedades Raras (CIBERER) (Centre for Biomedical Research on Rare Diseases). Madrid, Spain.
Centro di Consulenza Genetica e di Teratologia della Riproduzione. Laboratorio di Citogenetica. Dipartimento Materno Infantile. Catania, Italy.
INAGEMP (Instituto Nacional de Genética Médica Populacional), Rio de Janeiro, RJ, Brasil / Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. ECLAMC (Estudio Colaborativo Latino Americano de Malformaciones Congénitas). Rio de Janeiro, RJ, Brasil / CEMIC (Centro de Estudios Médicos e Investigaciones Clínicas). Buenos Aires, Argentina.
University of Padua. Clinical Genetics Unit. Department of Pediatrics. Padua, Italy.
University, Bologna. IMER Registry. Department of Pediatrics. Bologna, Italy.
National Center for Healthcare Audit and Inspection. Department of Hungarian Congenital Abnormality Registry and Surveillance. Budapest, Hungary.
University of Utah School of Medicine. Department of Pediatrics. Division of Medical Genetics. Salt Lake City, Utah, USA / Utah Department of Health. Utah Birth Defect Network. Salt Lake City, Utah, USA.
Soroka University Medical Center. Department of Neonatology. Beer-Sheba, Israel.
Centre of the International Clearinghouse for Birth Defects Surveillance and Research. Rome, Italy.
Peking University Health Science Center. National Center for Maternal and Infant Health. Beijing, People´s Republic of China.
Alberta Health & Wellness. Alberta Congenital Anomalies Surveillance System, Calgary, Alberta, Canada.
Texas Department of State Health Services. Birth Defects Epidemiology and Surveillance Branch. Texas, USA.
Centre of the International Clearinghouse for Birth Defects Surveillance and Research. Rome, Italy.
Singleton Hospital,. CARIS, the Congenital Anomaly Register for Wales. Swansea, United Kingdom.
Instituto Nacional de Ciencias Médicas y Nutrición “Salvador Zubirán”. Departamento de Genética. RYVEMCE (Registro y Vigilancia Epidemiológica de Malformaciones Congénitas),. Mexico City, México.
CNR Institute of Clinical Physiology. CNR-Tuscany Region “Gabriele Monasterio” Foundation, Pisa, Italy.
University Magdeburg. Medical Faculty Otto-von-Guericke. Malformation Monitoring Centre Saxony-Anhalt. Germany.
National Institute for Health and Welfare. The Finnish Register of Congenital Malformations. THL, Helsinki, Finland.
General Hospital “G. Rummo” Benevento. Medical Genetics Dept. Birth Defects Campania Registry. Italy.
Slovak Medical University. Slovak Teratologic Information Centre. Bratislava, Slovak Republic.
Centers for Disease Control and Prevention. Metropolitan Atlanta Congenital Defects Program, National Center on Birth Defects and Developmental Disabilities. Atlanta, Georgia, USA.
Resumo em Inglês
Bladder exstrophy (BE) is a complex congenital anomaly characterized by a defect in the closure of the lower abdominal wall and bladder. We aimed to provide an overview of the literature and conduct an epidemiologic study to describe the prevalence, and maternal and case characteristics of BE. We used data from 22 participating member programs of the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR). All cases were reviewed and classified as isolated, syndrome, and multiple congenital anomalies. We estimated the total prevalence of BE and calculated the frequency and odds ratios for various maternal and case characteristics. A total of 546 cases with BE were identified among 26,355,094 births. The total prevalence of BE was 2.07 per 100,000 births (95% CI: 1.90-2.25) and varied between 0.52 and 4.63 among surveillance programs participating in the study. BE was nearly twice as common among male as among female cases. The proportion of isolated cases was 71%. Prevalence appeared to increase with increasing categories of maternal age, particularly among isolated cases. The total prevalence of BE showed some variations by geographical region, which is most likely attributable to differences in registration of cases. The higher total prevalence among male cases and older mothers, especially among isolated cases, warrants further attention.
Palavras-chave
Extrofia Vesical
Idade materna
Razão de Masculinidade
Prevalência
 
Palavras-chave em inglês
bladder exstrophy
prevalence
sex ratio
maternal age
 
Editor
Wiley
Referência
SIFFEL, Csaba; et al. Bladder Exstrophy: An Epidemiologic Study From the International Clearinghouse for Birth Defects Surveillance and Research, and an Overview of the Literature. Am J Med Genet C Semin Med Genet. , v. 0, n.4, p.321–332, Nov. 2011.
DOI
10.1002/ajmg.c.30316
ISSN
1552-4868