Author
Affilliation
Abstract
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.
Publisher
Wiley
Citation
LEONCINI, Emanuele; et al. Frequency of Holoprosencephaly in the International Clearinghouse Birth Defects Surveillance Systems: Searching for Population Variations. Birth Defects Research (Part A), v. 82, p.585–591, 2008.
DOI
10.1002/bdra.20479
ISSN
2472-1727
Notes
AUTHORS - Emanuele Leoncini,1 Giovanni Baranello,2 Ieˆda M. Orioli,3 Go¨ran Annere´n,4 Marian Bakker,5
Fabrizio Bianchi,6 Carol Bower,7 Mark A. Canfield,8 Eduardo E. Castilla,3 Guido Cocchi,9
Adolfo Correa,10 Catherine De Vigan,11 Berenice Doray,12 Marcia L. Feldkamp,13 Miriam Gatt,14
Lorentz M. Irgens,15 R. Brian Lowry,16 Alice Maraschini,1 Robert Mc Donnell,17 Margery Morgan,18
Osvaldo Mutchinick,19 Simone Poetzsch,20 Merilyn Riley,21 Annukka Ritvanen,22
Elisabeth Robert Gnansia,23 Gioacchino Scarano,24 Antonin Sipek,25
Romano Tenconi,26 and Pierpaolo Mastroiacovo1* --- AFFILIATIONS - 1Centre of the International Clearinghouse for Birth Defects Surveillance and Research, Roma, Italy
2Istituto di Neuropsichiatria Infantile, Universita` Cattolica Sacro Cuore, Roma, Italy
3ECLAMC at Dept. Gene´tica, Universidade Federal do Rio de Janeiro, Brazil
4Department of Clinical Genetics, Uppsala University, Uppsala and Swedish Births Defects Registry, Stockholm, Sweden
5EUROCAT Northern Netherlands, Department of Genetics, University Medical Centre Groningen,
University of Groningen, Groningen, Netherlands
6Sezione di Epidemiologia e Biostatistica, Istituto di Fisiologia Clinica del CNR, Pisa, Italy
7Western Australian Birth Defects Registry (WABDR), Women and Newborn Health Service, Subiaco, Western Australia
8Texas Birth Defects Epidemiology & Surveillance Branch, Austin, Texas
9Istituto Clinico di Pediatria Preventiva e Neonatologia, Universita` di Bologna, Bologna, Italy
10Metropolitan Atlanta Congenital Defects Program, National Center on Birth Defects and Developmental Disabilities,
Centers for Disease Control and Prevention, Atlanta, Georgia
11Registre des malformations conge´nitales de Paris, INSERM U 149, Recherches e´pide´miologiques
en sante´ pe´rinatale et sante´ des femmes, Villejuif, France
12Service de Ge´ne´tique Me´dicale, Hopital de Hautepierre, Strasbourg, France
13Department of Pediatrics, Division of Medical Genetics, University of Utah Health Sciences Center, Salt Lake City, Utah
14Malta Congenital Anomalies Registry, Department of Health Information and Research, Guardamangia, Malta
15Medical Birth Registry of Norway, Department of Public Health and Primary Care,
University of Bergen and the Norwegian Institute of Public Health, Bergen, Norway
16Alberta Congenital Anomalies Surveillance System, Alberta Health & Wellness, Calgary, Alberta, Canada
17Population Health Directorate, HSE, Dr. Steevens Hospital, Dublin, Ireland
18Congenital Anomaly Register and Information Service (CARIS), Singleton Hospital, Swansea, Wales, United Kingdom
19RYVEMCE, Department of Genetics, National Institute of Medical Sciences and Nutrition Salvador Zubiran, Mexico City, Mexico
20Malformation Monitoring Saxony-Anhalt, Faculty of Medicine, Otto-von-Guericke University, Magdeburg, Germany
21Victorian Birth Defects Register, Perinatal Data Collection Unit, Department of Human Services, Victoria, Australia
22National Research and Development Centre for Welfare and Health (STAKES), Helsinki, Finland
23REMERA, Registre des Malformations en Rhoˆne Alpes, Faculte´ Laennec, Lyon, France
24Birth Defects Campania Registry, Medical Genetics Dept., General Hospital ‘‘G. Rummo’’ Benevento, Italy
25Department of Population Teratology, Institute for Care of Mother and Child, Prague, Czech Republic
26Dipartimento di Pediatria, Genetica Clinica ed Epidemiologica, Universita`di Padova, Padova, Italy.
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