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2030-01-01
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- IOC - Artigos de Periódicos [12642]
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ACARDIA: EPIDEMIOLOGIC FINDINGS AND LITERATURE REVIEW FROM THE INTERNATIONAL CLEARINGHOUSE FOR BIRTH DEFECTS SURVEILLANCE AND RESEARCH
Características epidemiológicas
defeitos de nascença
Prevalência
Autor
Botto, Lorenzo D.
Feldkamp, Marcia L.
Amar, Emmanuelle
Carey, John C.
Castilla, Eduardo E.
Clementi, Maurizio
Cocchi, Guido
Walle, Hermien E. K. de
Halliday, Jane
Leoncini, Emanuele
Li, Zhu
Lowry, R. .Brian
Marengo, Lisa K.
Martínez-Frías, María-Luisa
Merlob, Paul
Morgan, Margery
Muñoz, Leonora Luna
Rissmann, Anke
Ritvanen, Annukka
Scarano, Gioacchino
Mastroiacovo, Pierpaolo
Feldkamp, Marcia L.
Amar, Emmanuelle
Carey, John C.
Castilla, Eduardo E.
Clementi, Maurizio
Cocchi, Guido
Walle, Hermien E. K. de
Halliday, Jane
Leoncini, Emanuele
Li, Zhu
Lowry, R. .Brian
Marengo, Lisa K.
Martínez-Frías, María-Luisa
Merlob, Paul
Morgan, Margery
Muñoz, Leonora Luna
Rissmann, Anke
Ritvanen, Annukka
Scarano, Gioacchino
Mastroiacovo, Pierpaolo
Afiliación
University of Utah Health Sciences Center. Division of Medical Genetics,. Department of Pediatrics. Salt Lake City, Utah, USA / Utah Department of Health. Utah Birth Defect Network,. Salt Lake City, Utah, USA.
University of Utah Health Sciences Center. Division of Medical Genetics,. Department of Pediatrics. Salt Lake City, Utah, USA.
Rhone-Alps Registry of Birth Defects REMERA. Lyon, France.
University of Utah Health Sciences Center. Division of Medical Genetics,. Department of Pediatrics. Salt Lake City, Utah, USA / Utah Department of Health. Utah Birth Defect Network,. Salt Lake City, Utah, USA.
Instituto Nacional de Genética Médica Populacional. Rio de Janeiro, RJ, Brasil / Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Estudio Colaborativo Latino Americano de Malformaciones Congénitas. Rio de Janeiro, RJ, Brasil / Centro de Estudios Médicos e Investigaciones Clínicas. Buenos Aires, Argentina.
University of Padua. Department of Pediatrics. Clinical Genetics Unit. Padua, Italy.
Bologna University. Department of Pediatrics. IMER Registry. Bologna, Italy.
Eurocat Northern Netherlands. Department of Genetics. University Medical Center Groningen. Groningen, The Netherlands.
Public Health Genetics. Laboratory and Community Genetics. Murdoch Childrens Research Institute. he Royal Children’s Hospital, Parkville, Victoria, Australia, formerly Victorian Birth Defects Register, Victoria, Australia.
Centre of the International Clearinghouse for Birth Defects Surveillance and Research. Rome, Italy.
National Center for Maternal and Infant Health. Peking University Health Science Center. Beijing, People’s Republic of China.
Alberta Congenital Anomalies Surveillance System. Alberta Health & Wellness. Calgary, Alberta, Canada.
Texas Department of State Health Services. Birth Defects Epidemiology and Surveillance Branch.Texas, USA.
rid, Spain / Centre for Biomedical Research on Rare Diseases). Madrid, Spain / Universidad Complutense de Madrid. Faculty of Medicine. Department of Pharmacology. Madrid, Spain.
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 Médicas y Nutricio´n Salvador Zubirán. Departamento de Genética. Mexico City, México.
MMalformation 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.
Birth Defects Campania Registry. Medical Genetics Dept, General Hospital ‘‘G. Rummo’’ Benevento. Italy.
Centre of the International Clearinghouse for Birth Defects Surveillance and Research. Rome, Italy.
University of Utah Health Sciences Center. Division of Medical Genetics,. Department of Pediatrics. Salt Lake City, Utah, USA.
Rhone-Alps Registry of Birth Defects REMERA. Lyon, France.
University of Utah Health Sciences Center. Division of Medical Genetics,. Department of Pediatrics. Salt Lake City, Utah, USA / Utah Department of Health. Utah Birth Defect Network,. Salt Lake City, Utah, USA.
Instituto Nacional de Genética Médica Populacional. Rio de Janeiro, RJ, Brasil / Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Estudio Colaborativo Latino Americano de Malformaciones Congénitas. Rio de Janeiro, RJ, Brasil / Centro de Estudios Médicos e Investigaciones Clínicas. Buenos Aires, Argentina.
University of Padua. Department of Pediatrics. Clinical Genetics Unit. Padua, Italy.
Bologna University. Department of Pediatrics. IMER Registry. Bologna, Italy.
Eurocat Northern Netherlands. Department of Genetics. University Medical Center Groningen. Groningen, The Netherlands.
Public Health Genetics. Laboratory and Community Genetics. Murdoch Childrens Research Institute. he Royal Children’s Hospital, Parkville, Victoria, Australia, formerly Victorian Birth Defects Register, Victoria, Australia.
Centre of the International Clearinghouse for Birth Defects Surveillance and Research. Rome, Italy.
National Center for Maternal and Infant Health. Peking University Health Science Center. Beijing, People’s Republic of China.
Alberta Congenital Anomalies Surveillance System. Alberta Health & Wellness. Calgary, Alberta, Canada.
Texas Department of State Health Services. Birth Defects Epidemiology and Surveillance Branch.Texas, USA.
rid, Spain / Centre for Biomedical Research on Rare Diseases). Madrid, Spain / Universidad Complutense de Madrid. Faculty of Medicine. Department of Pharmacology. Madrid, Spain.
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 Médicas y Nutricio´n Salvador Zubirán. Departamento de Genética. Mexico City, México.
MMalformation 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.
Birth Defects Campania Registry. Medical Genetics Dept, General Hospital ‘‘G. Rummo’’ Benevento. Italy.
Centre of the International Clearinghouse for Birth Defects Surveillance and Research. Rome, Italy.
Resumen en ingles
Acardia is a severe, complex malformation of monozygotic twinning, but beyond clinical case series, very few epidemiologic data are available. The goals of this study were to assess the epidemiologic characteristics of acardia from birth defect registries in the International Clearinghouse for Birth Defects Surveillance and Research (Clearinghouse), and compare these findings to current literature. The study included 17 surveillance programs of the Clearinghouse representing 23 countries from North and South America, Europe, China, and Australia. Anonymized individual records with clinical and demographic data were reviewed centrally by clinical geneticists. A literature search was performed. A total of 164 cases of acardia were reported from an underlying cohort of 21.2 million births. Of these, 23% were elective pregnancy terminations. Rates did not vary significantly by maternal age. For many cases, information on pregnancy exposures and genetic testing was missing. However, these limited data did not suggest high rates of chronic illnesses (diabetes, seizure disorders) or lifestyle factors such as smoking. One case had trisomy 13. Major malformations were reported in 2.4% of co-twins. With some basic assumptions, the total prevalence of acardia was estimated at 1 in 50,000-70,000 births, and 1 in 200-280 monozygotic twins. In summary, acardia is a dramatic, probably underreported, and incompletely understood malformation. Studies on its epidemiology and etiology are challenging and still rare. An international collaboration of epidemiologists, clinicians, and geneticists is necessary to understand the etiology, pathogenesis, and occurrence of this severe malformation complex.
Palabras clave en portugues
AcardiaCaracterísticas epidemiológicas
defeitos de nascença
Prevalência
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