Cloacal exstrophy: An epidemiologic study from the International Clearinghouse for Birth Defects Surveillance and Research

• Autores: Feldkamp, Marcia L.; Botto, Lorenzo; Amar, Emmanuelle; Bakker, Marian K.; Bermejo Sánchez, Eva; Bianca, Sebastiano; Canfield, Mark A.; Castilla, Eduardo Enrique; 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.
• Año de publicación: 2011
• Idioma: inglés
• Tipo de recurso: artículo
• Materia: BIRTH DEFECTS; CLINICAL FINDINGS; CLOACAL EXSTROPHY; OEIS COMPLEX; PREVALENCE
• Institución: Consejo Nacional de Investigaciones Científicas y Técnicas

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.
Fil: Feldkamp, Marcia L.. Utah Department of Health; Estados Unidos. University of Utah School of Medicine; Estados Unidos
Fil: Botto, Lorenzo. Utah Department of Health; Estados Unidos. University of Utah School of Medicine; Estados Unidos
Fil: Amar, Emmanuelle. Rhone-Alps Registry of Birth Defects REMERA; Francia
Fil: Bakker, Marian K.. University of Groningen; Países Bajos
Fil: Bermejo Sánchez, Eva. Instituto de Salud Carlos III; España
Fil: Bianca, Sebastiano. Centro Di Consulenza Genetica E Di Teratologia Della Riproduzione; Italia
Fil: Canfield, Mark A.. Texas Department of State Health Services; Estados Unidos
Fil: Castilla, Eduardo Enrique. Fundación Oswaldo Cruz; Brasil. Centro de Educación Medica E Invest.clinicas; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
Fil: Clementi, Maurizio. Università di Padova; Italia
Fil: Csaky Szunyogh, Melinda. National Center For Healthcare Audit And Inspection; Estados Unidos
Fil: Leoncini, Emanuele. Centre Of The International Clearinghouse For Birth Defects Surveillance And Research; Estados Unidos
Fil: Li, Zhu. Peking University Health Science Center; China
Fil: Lowry, R. Brian. Alberta Congenital Anomalies Surveillance System; Canadá
Fil: Mastroiacovo, Pierpaolo. Centre Of The International Clearinghouse For Birth Defects Surveillance And Research; Italia
Fil: Merlob, Paul. Tel Aviv University; Israel
Fil: Morgan, Margery. Congenital Anomaly and Register for Wales; Reino Unido
Fil: Mutchinick, Osvaldo M.. Instituto Nacional de la Nutrición Salvador Zubiran; México
Fil: Rissmann, Anke. Otto-von-Guericke-Universität Magdeburg; Alemania
Fil: Ritvanen, Annukka. National Institute For Health And Welfare; Finlandia
Fil: Siffel, Csaba. National Center on Birth Defects and Developmental Disabilities; Estados Unidos
Fil: Carey, John C.. University Of Utah School Of Medicine; Estados Unidos. Utah Department of Health; Estados Unidos