Original Article

Frequency of holoprosencephaly in the International Clearinghouse Birth Defects Surveillance Systems: Searching for population variations

  1. Emanuele Leoncini1,
  2. Giovanni Baranello2,
  3. Iêda M. Orioli3,
  4. Göran Annerén4,
  5. Marian Bakker5,
  6. Fabrizio Bianchi6,
  7. Carol Bower7,
  8. Mark A. Canfield8,
  9. Eduardo E. Castilla3,
  10. Guido Cocchi9,
  11. Adolfo Correa10,
  12. Catherine De Vigan11,
  13. Berenice Doray12,
  14. Marcia L. Feldkamp13,
  15. Miriam Gatt14,
  16. Lorentz M. Irgens15,
  17. R. Brian Lowry16,
  18. Alice Maraschini1,
  19. Robert Mc Donnell17,
  20. Margery Morgan18,
  21. Osvaldo Mutchinick19,
  22. Simone Poetzsch20,
  23. Merilyn Riley21,
  24. Annukka Ritvanen22,
  25. Elisabeth Robert Gnansia23,
  26. Gioacchino Scarano24,
  27. Antonin Sipek25,
  28. Romano Tenconi26,
  29. Pierpaolo Mastroiacovo1,*

Article first published online: 19 JUN 2008

DOI: 10.1002/bdra.20479

Issue

Birth Defects Research Part A: Clinical and Molecular Teratology

Birth Defects Research Part A: Clinical and Molecular Teratology

Volume 82, Issue 8, pages 585–591, August 2008

Additional Information

How to Cite

Leoncini, E., Baranello, G., Orioli, I. M., Annerén, G., Bakker, M., Bianchi, F., Bower, C., Canfield, M. A., Castilla, E. E., Cocchi, G., Correa, A., De Vigan, C., Doray, B., Feldkamp, M. L., Gatt, M., Irgens, L. M., Lowry, R. B., Maraschini, A., Mc Donnell, R., Morgan, M., Mutchinick, O., Poetzsch, S., Riley, M., Ritvanen, A., Gnansia, E. R., Scarano, G., Sipek, A., Tenconi, R. and Mastroiacovo, P. (2008), Frequency of holoprosencephaly in the International Clearinghouse Birth Defects Surveillance Systems: Searching for population variations. Birth Defects Research Part A: Clinical and Molecular Teratology, 82: 585–591. doi: 10.1002/bdra.20479

Author Information

  1. 1

    Centre of the International Clearinghouse for Birth Defects Surveillance and Research, Roma, Italy

  2. 2

    Istituto di Neuropsichiatria Infantile, Università Cattolica Sacro Cuore, Roma, Italy

  3. 3

    ECLAMC at Dept. Genética, Universidade Federal do Rio de Janeiro, Brazil

  4. 4

    Department of Clinical Genetics, Uppsala University, Uppsala and Swedish Births Defects Registry, Stockholm, Sweden

  5. 5

    EUROCAT Northern Netherlands, Department of Genetics, University Medical Centre Groningen, University of Groningen, Groningen, Netherlands

  6. 6

    Sezione di Epidemiologia e Biostatistica, Istituto di Fisiologia Clinica del CNR, Pisa, Italy

  7. 7

    Western Australian Birth Defects Registry (WABDR), Women and Newborn Health Service, Subiaco, Western Australia

  8. 8

    Texas Birth Defects Epidemiology & Surveillance Branch, Austin, Texas

  9. 9

    Istituto Clinico di Pediatria Preventiva e Neonatologia, Università di Bologna, Bologna, Italy

  10. 10

    Metropolitan Atlanta Congenital Defects Program, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia

  11. 11

    Registre des malformations congénitales de Paris, INSERM U 149, Recherches épidémiologiques en santé périnatale et santé des femmes, Villejuif, France

  12. 12

    Service de Génétique Médicale, Hopital de Hautepierre, Strasbourg, France

  13. 13

    Department of Pediatrics, Division of Medical Genetics, University of Utah Health Sciences Center, Salt Lake City, Utah

  14. 14

    Malta Congenital Anomalies Registry, Department of Health Information and Research, Guardamangia, Malta

  15. 15

    Medical Birth Registry of Norway, Department of Public Health and Primary Care, University of Bergen and the Norwegian Institute of Public Health, Bergen, Norway

  16. 16

    Alberta Congenital Anomalies Surveillance System, Alberta Health & Wellness, Calgary, Alberta, Canada

  17. 17

    Population Health Directorate, HSE, Dr. Steevens Hospital, Dublin, Ireland

  18. 18

    Congenital Anomaly Register and Information Service (CARIS), Singleton Hospital, Swansea, Wales, United Kingdom

  19. 19

    RYVEMCE, Department of Genetics, National Institute of Medical Sciences and Nutrition Salvador Zubiran, Mexico City, Mexico

  20. 20

    Malformation Monitoring Saxony-Anhalt, Faculty of Medicine, Otto-von-Guericke University, Magdeburg, Germany

  21. 21

    Victorian Birth Defects Register, Perinatal Data Collection Unit, Department of Human Services, Victoria, Australia

  22. 22

    National Research and Development Centre for Welfare and Health (STAKES), Helsinki, Finland

  23. 23

    REMERA, Registre des Malformations en Rhône Alpes, Faculté Laennec, Lyon, France

  24. 24

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

  25. 25

    Department of Population Teratology, Institute for Care of Mother and Child, Prague, Czech Republic

  26. 26

    Dipartimento di Pediatria, Genetica Clinica ed Epidemiologica, Universitàdi Padova, Padova, Italy

*Centre of the International Clearinghouse for Birth Defects Surveillance and Research, Roma, Italy

Publication History

  1. Issue published online: 12 AUG 2008
  2. Article first published online: 19 JUN 2008
  3. Manuscript Accepted: 12 APR 2008
  4. Manuscript Revised: 10 APR 2008
  5. Manuscript Received: 25 FEB 2008

Funded by

  • Centers for Disease Control and Prevention, National Center on Birth Defects and Developmental Disabilities. Grant Number: U50/CCU207141

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Keywords:

  • holoprosencephaly;
  • epidemiology;
  • prevalence;
  • brain malformations;
  • ICBDSR

Abstract

BACKGROUND: Holoprosencephaly (HPE) is a developmental field defect of the brain that results in incomplete separation of the cerebral hemispheres that includes less severe phenotypes, such as arhinencephaly and single median maxillary central incisor. Information on the epidemiology of HPE is limited, both because few population-based studies have been reported, and because small studies must observe a greater number of years in order to accumulate sufficient numbers of births for a reliable estimate. METHODS: We collected data from 2000 through 2004 from 24 of the 46 Birth Defects Registry Members of the International Clearinghouse for Birth Defects Surveillance and Research. This study is based on more than 7 million births in various areas from North and South America, Europe, and Australia. RESULTS: A total of 963 HPE cases were registered, yielding an overall prevalence of 1.31 per 10,000 births. Because the estimate was heterogeneous, possible causes of variations among populations were analyzed: random variation, under-reporting and over-reporting bias, variation in proportion of termination of pregnancies among all registered cases and real differences among populations. CONCLUSIONS: The data do not suggest large differences in total prevalence of HPE among the studied populations that would be useful to generate etiological hypotheses. Birth Defects Research (Part A), 2008. © 2008 Wiley-Liss, Inc.

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