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Acardia: Epidemiologic findings and literature review from the International Clearinghouse for Birth Defects Surveillance and Research

Authors

  • Lorenzo D. Botto,

    Corresponding author
    1. Division of Medical Genetics, Department of Pediatrics, University of Utah Health Sciences Center, Salt Lake City, Utah
    2. Utah Birth Defect Network, Utah Department of Health, Salt Lake City, Utah
    • Division of Medical Genetics, Department of Pediatrics, University of Utah Health Sciences Center, 2C412 SOM, 50 North Medical Drive, Salt Lake City, UT 84132.
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  • Marcia L. Feldkamp,

    1. Division of Medical Genetics, Department of Pediatrics, University of Utah Health Sciences Center, Salt Lake City, Utah
    2. Utah Birth Defect Network, Utah Department of Health, Salt Lake City, Utah
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  • Emmanuelle Amar,

    1. Rhone-Alps Registry of Birth Defects REMERA, Lyon, France
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  • John C. Carey,

    1. Division of Medical Genetics, Department of Pediatrics, University of Utah Health Sciences Center, Salt Lake City, Utah
    2. Utah Birth Defect Network, Utah Department of Health, Salt Lake City, Utah
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  • Eduardo E. Castilla,

    1. INAGEMP (Instituto Nacional de Genética Médica Populacional), Brazil
    2. ECLAMC (Estudio Colaborativo Latino Americano de Malformaciones Congénitas) at Instituto Oswaldo Cruz, Fundação Oswaldo Cruz, Rio de Janeiro, Brazil
    3. CEMIC (Centro de Estudios Médicos e Investigaciones Clínicas), Buenos Aires, Argentina
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  • Maurizio Clementi,

    1. Department of Pediatrics, University of Padua, Clinical Genetics Unit, Padua, Italy
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  • Guido Cocchi,

    1. IMER Registry, Department of Pediatrics, Bologna University, Bologna, Italy
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  • Hermien E.K. de Walle,

    1. Eurocat Northern Netherlands, Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands
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  • Jane Halliday,

    1. Public Health Genetics, Laboratory and Community Genetics, Murdoch Childrens Research Institute, The Royal Children's Hospital, Parkville, Victoria, Australia, formerly Victorian Birth Defects Register, Victoria, Australia
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  • Emanuele Leoncini,

    1. Centre of the International Clearinghouse for Birth Defects Surveillance and Research, Rome, Italy
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  • Zhu Li,

    1. National Center for Maternal and Infant Health, Peking University Health Science Center, Beijing, People's Republic of China
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  • R. Brian Lowry,

    1. Alberta Congenital Anomalies Surveillance System, Alberta Health & Wellness, Calgary, Alberta, Canada
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  • Lisa K. Marengo,

    1. Birth Defects Epidemiology and Surveillance Branch, Texas Department of State Health Services, Texas
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  • María-Luisa Martínez-Frías,

    1. ECEMC (Spanish Collaborative Study of Congenital Malformations), Centro de Investigación sobre Anomalías Congénitas (CIAC), Instituto de Salud Carlos III (ISCIII), Madrid, Spain
    2. CIBER de Enfermedades Raras (CIBERER) (Centre for Biomedical Research on Rare Diseases), Madrid, Spain
    3. Department of Pharmacology, Faculty of Medicine, Universidad Complutense de Madrid, Spain
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  • Paul Merlob,

    1. Rabin Medical Center, Petah Tiqva and Tel-Aviv University, Israel
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  • Margery Morgan,

    1. CARIS, the Congenital Anomaly and Register for Wales, Singleton Hospital, Swansea, United Kingdom
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  • Leonora Luna Muñoz,

    1. Departamento de Genética, RYVEMCE, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, México City, México
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  • Anke Rissmann,

    1. Malformation Monitoring Centre Saxony-Anhalt, Medical Faculty Otto-von-Guericke University Magdeburg, Germany
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  • Annukka Ritvanen,

    1. The Finnish Register of Congenital Malformations, National Institute for Health and Welfare, THL, Helsinki, Finland
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  • Gioacchino Scarano,

    1. Birth Defects Campania Registry, Medical Genetics Dept, General Hospital “G. Rummo” Benevento, Italy
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  • Pierpaolo Mastroiacovo

    1. Centre of the International Clearinghouse for Birth Defects Surveillance and Research, Rome, Italy
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  • How to Cite this Article: Botto LD, Feldkamp ML, Amar E, Carey JC, Castilla EE, Clementi M, Cocchi G, de Walle HEK, Halliday J, Leoncini E, Li Z, Lowry RB, Marengo LK, Martínez-Frías M-L, Merlob P, Morgan M, Muñoz LL, Rissmann A, Ritvanen A, Scarano G, Mastroiacovo P. 2011. Acardia: Epidemiologic findings and literature review from the International Clearinghouse of Birth Defects Surveillance and Research. Am J Med Genet Part C Semin Med Genet 157: 262–273.

Abstract

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. © 2011 Wiley Periodicals, Inc.

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