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Cyclopia: an epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research |
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| Authors: | Orioli Iêda M Amar Emmanuelle Bakker Marian K Bermejo-Sánchez Eva Bianchi Fabrizio Canfield Mark A Clementi Maurizio Correa Adolfo Csáky-Szunyogh Melinda Feldkamp Marcia L Landau Danielle Leoncini Emanuele Li Zhu Lowry R Brian Mastroiacovo Pierpaolo Morgan Margery Mutchinick Osvaldo M Rissmann Anke Ritvanen Annukka Scarano Gioacchino Szabova Elena Castilla Eduardo E |
| Affiliation: | 1. ECLAMC (Estudo Colaborativo Latino Americano de Malformações Congênitas) at Departamento de Genética, Instituto de Biologia, Rio de Janeiro, Brazil;2. Rhone-Alps Registry of Birth Defects REMERA, Lyon, France;3. Eurocat Northern Netherlands, Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands;4. Instituto de Investigación de Enfermedades Raras (IIER). Instituto de Salud Carlos III (ISCIII), Madrid, Spain ECEMC (Spanish Collaborative Study of Congenital Malformations), Centro de Investigación sobre Anomalías Congénitas (CIAC), Instituto de Salud Carlos III (ISCIII), Madrid, Spain CIBER de Enfermedades Raras (CIBERER) (Centre for Biomedical Research on Rare Diseases), Madrid, Spain;5. Tuscany Registry of Congenital Defects (RTDC), Epidemiology Unit, IFC-CNR, Pisa, Italy;6. Birth Defects Epidemiology and Surveillance Branch, Texas Department of State Health Services, Texas;7. Department of Pediatrics, University of Padua, Clinical Genetics Unit, Padua, Italy;8. Division of Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia;9. Department of Hungarian Congenital Abnormality Registry and Surveillance, National Center for Healthcare Audit and Inspection, Budapest, Hungary;10. Division of Medical Genetics, Department of Pediatrics, University of Utah Health Sciences Center, Salt Lake City, Utah Utah Birth Defect Network, Utah Department of Health, Salt Lake City, Utah;11. Department of Neonatology, Soroka University Medical Center, Beer-Sheba, Israel;12. Centre of the International Clearinghouse for Birth Defects Surveillance and Research, Rome, Italy;13. National Center for Maternal and Infant Health, Peking University Health Science Center, Beijing, People's Republic of China;14. Alberta Congenital Anomalies Surveillance System, Alberta Health and Wellness, Calgary, Alberta, Canada;15. CARIS, the Congenital Anomaly Register for Wales, Singleton Hospital, Swansea, Wales;16. Departamento de Genética, RYVEMCE (Registro y Vigilancia Epidemiológica de Malformaciones Congénitas), Instituto Nacional de Ciencias Médicas y Nutrición “Salvador Zubirán” Vasco de Quiroga 15, Sección XVI, Delegación Tlapan, Mexico;17. Malformation Monitoring Centre Saxony-Anhalt, Medical Faculty Otto-von-Guericke University Magdeburg, Germany;18. The Finnish Register of Congenital Malformations, National Institute for Health and Welfare, THL, Helsinki, Finland;19. Birth Defects Campania Registry, Medical Genetics Dept, General Hospital “G. Rummo” Benevento, Italy;20. Slovak Teratologic Information Centre, Slovak Medical University, Bratislava, Slovak Republic;21. INAGEMP (Instituto Nacional de Genética Médica Populacional), Rio de Janeiro, Brazil ECLAMC at CEMIC: Centro de Educación Médica e Investigación Clínica, Buenos Aires, Argentina ECLAMC at Laboratório de Epidemiologia de Malformações Congênitas, Instituto Oswaldo Cruz, Fundação Oswaldo Cruz, Rio de Janeiro, Brazil |
| Abstract: | Cyclopia is characterized by the presence of a single eye, with varying degrees of doubling of the intrinsic ocular structures, located in the middle of the face. It is the severest facial expression of the holoprosencephaly (HPE) spectrum. This study describes the prevalence, associated malformations, and maternal characteristics among cases with cyclopia. Data originated in 20 Clearinghouse (ICBDSR) affiliated birth defect surveillance systems, reported according to a single pre-established protocol. A total of 257 infants with cyclopia were identified. Overall prevalence was 1 in 100,000 births (95%CI: 0.89-1.14), with only one program being out of range. Across sites, there was no correlation between cyclopia prevalence and number of births (r = 0.08; P = 0.75) or proportion of elective termination of pregnancy (r = -0.01; P = 0.97). The higher prevalence of cyclopia among older mothers (older than 34) was not statistically significant. The majority of cases were liveborn (122/200; 61%) and females predominated (male/total: 42%). A substantial proportion of cyclopias (31%) were caused by chromosomal anomalies, mainly trisomy 13. Another 31% of the cases of cyclopias were associated with defects not typically related to HPE, with more hydrocephalus, heterotaxia defects, neural tube defects, and preaxial reduction defects than the chromosomal group, suggesting the presence of ciliopathies or other unrecognized syndromes. Cyclopia is a very rare defect without much variability in prevalence by geographic location. The heterogeneous etiology with a high prevalence of chromosomal abnormalities, and female predominance in HPE, were confirmed, but no effect of increased maternal age or association with twinning was observed. |
| Keywords: | cyclopia holoprosencephaly trisomy 13 prevalence global world prevalence epidemiology clinical |
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