Please use this identifier to cite or link to this item: https://www.arca.fiocruz.br/handle/icict/22768
Title: Cloacal exstrophy: an epidemiologic study from the International Clearinghouse for Birth Defects Surveillance and Research
Authors: Feldkamp, Marcia L.
Botto, Lorenzo D.
Amar, Emmanuelle
Bakker, Marian K.
Bermejo-Sánchez, Eva
Bianca, Sebastiano
Canfield, Mark A.
Castilla, Eduardo E.
Clementi, Maurizio
Csaky-Szunyogh, Melinda
Leoncini, Emanuele
Li, Zhu
Lowry, R Brian
Mastroiacovo, Pierpaolo
Merlob, Paul
Morgan, Margery
Mutchinick, Osvaldo M.
Rissmann, Anke
Ritvanen, Annukka
Siffel, Csaba
Carey, John C.
Affilliation: University of Utah Health School of Medicine. Division of Medical Genetics, Department of Pediatrics. Salt Lake City, Utah / Utah Department of Healt. Utah Birth Defect Network. Salt Lake City, Utah, USA.
University of Utah Health School of Medicine. Division of Medical Genetics, Department of Pediatrics. Salt Lake City, Utah / Utah Department of Healt. Utah Birth Defect Network. Salt Lake City, Utah, USA.
Rhone-Alps Registry of Birth Defects REMERA. Lyon, France.
Eurocat Northern Netherlands. Department of Genetics. University Medical Center Groningen. Groningen, The Netherlands.
Instituto de Investigación de Enfermedades Raras (IIER). Instituto de Salud Carlos III (ISCIII). Madrid, Spain / ECEMC (Spanish Collaborative Study of Congenital Malformations). Centro de Investigación sobre Anomalías Congénitas (CIAC). Instituto de Salud Carlos III (ISCIII). Madrid, Spain / CIBER de Enfermedades Raras (CIBERER). (Centre for Biomedical Research on Rare Diseases). Madrid, Spain.
Dipartimento Materno Infantile. Centro di Consulenza Genetica e di Teratologia della Riproduzione. Laboratorio di Citogenetica. P.O. Garibaldi, Nesima, Catania, Italy.
Texas Department of State Health Services. Birth Defects Epidemiology and Surveillance Branch,. Texas, USA.
Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Estudio Colaborativo Latino Americano de Malformaciones Congénitas. Rio de Janeiro, RJ, Brasil / CEMIC (Centro de Estudios Médicos e Investigaciones Clínicas). Buenos Aires, Argentina / Instituto Nacional de Genética Médica Populacional. Rio de Janeiro, RJ, Brasil.
University of Padua. Clinical Genetics Unit. Department of Pediatrics. Padua, Italy.
National Center for Healthcare Audit and Inspection. Department of Hungarian Congenital Abnormality Registry and Surveillance. Budapest, Hungary.
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, China.
Alberta Congenital Anomalies Surveillance System. Alberta Health & Wellness. Calgary, Alberta, Canada.
Centre of the International Clearinghouse for Birth Defects Surveillance and Research. Rome, Italy.
Rabin Medical Center. Petah Tiqva and Tel-Aviv University, Israel.
CARIS, the Congenital Anomaly and Register for Wales. Singleton Hospital. Swansea, United Kingdom.
Instituto Nacional de Ciencias Me´dicas y Nutricio´n Salvador Zubiran. Departamento de Gene´tica, RYVEMCE,. Mexico City, México.
Malformation Monitoring Centre Saxony-Anhalt. Medical Faculty Otto-von-Guericke University Magdeburg. Germany.
National Institute for Health and Welfare. The Finnish Register of Congenital Malformations. Helsinki, Finland.
Metropolitan Atlanta Congenital Defects Program. National Center on Birth Defects and Developmental Disabilities. Centers for Disease Control and Prevention. Atlanta, Georgia, USA.
University of Utah Health School of Medicine. Division of Medical Genetics, Department of Pediatrics. Salt Lake City, Utah / Utah Department of Healt. Utah Birth Defect Network. Salt Lake City, Utah, USA.
Abstract: Cloacal exstrophy presents as a complex abdominal wall defect thought to result from a mesodermal abnormality. Anatomically, its main components are Omphalocele, bladder Exstrophy and Imperforate anus. Other associated malformations include renal malformations and Spine defects (OEIS complex). Historically, the prevalence ranges from 1 in 200,000 to 400,000 births, with higher rates in females. Cloacal exstrophy is likely etiologically heterogeneous as suggested by its recurrence in families and occurrence in monozygotic twins. The defect has been described in infants with limb-body wall, with trisomy 18, and in one pregnancy exposed to Dilantin and diazepam. Due to its rarity, the use of a nonspecific diagnostic code for case identification, and lack of validation of the clinical findings, cloacal exstrophy remains an epidemiologic challenge. The purpose of this study was to describe the prevalence, associated anomalies and maternal characteristics among infants born with cloacal exstrophy. We used data from the International Clearinghouse for Birth Defects Surveillance and Research submitted from 18 birth defect surveillance programs representing 24 countries. Cases were clinically evaluated locally and reviewed centrally by two authors. Cases of persistent cloaca were excluded. A total of 186 cases of cloacal exstrophy were identified. Overall prevalence was 1 in 131,579 births: ranging from 1 in 44,444 births in Wales to 1 in 269,464 births in South America. Live birth prevalence was 1 in 184,195 births. Prevalence ratios did not vary by maternal age. Forty-two (22.6%) cases met the criteria for the OEIS complex, whereas 60 (32.3%) were classified as OEI and 18 (9.7%) as EIS (one with suspected VATER (0.5%)). Other findings included two cases with trisomy 13 (one without a karyotype confirmation), one with mosaic trisomy 12 (0.5%), one with mosaic 45,X (0.5%) and one classified as having amnion band sequence (0.5%). Twenty-seven (14.5%) infants had other anomalies unrelated to cloacal exstrophy. Cloacal exstrophy is a rare anomaly with variability in prevalence by geographic location. The proportion of cases classified as OEIS complex was lower in this study than previously reported. Among all cases, 54.8% were reported to have an omphalocele.
Keywords: cloacal exstrophy
prevalence
birth defects
clinical samples
OEIS complex
keywords: cloacal exstrophy
defeitos de nascença
amostras clínicas
Prevalência
Issue Date: 2011
Publisher: Wiley
Citation: FELDKAMP, Marcia L. et al. Cloacal Exstrophy: An Epidemiologic Study From the International Clearinghouse for Birth Defects Surveillance and Research. American Journal of Medical Genetics Part C (Seminars in Medical Genetics) , v.157, p.333–343, 2011.
DOI: 10.1002/ajmg.c.30317
ISSN: 1552-4876
Embargo date: 2030-01-01
Copyright: restricted access
Appears in Collections:IOC - Artigos de Periódicos
Files in This Item:
File Description SizeFormat 
eduardo4_castilla_etal_IOC_2011.pdf331.22 kBAdobe PDF    Request a copy



FacebookTwitterDeliciousLinkedInGoogle BookmarksBibTex Format mendeley Endnote DiggMySpace

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.