Abstract
Geographical clusters are defined as the occurrence of an unusual number of cases higher than expected in a given geographical area in a certain period of time. The aim of this study was to identify potential geographical clusters of specific selected congenital anomalies (CA) in Argentina. The cases were ascertained from 703,325 births, examined in 133 maternity hospitals in the 24 provinces of Argentina. We used the spatial scan statistic to determine areas of Argentina which had statistically significant elevations of prevalence. Prenatal diagnosis followed by referral of high-risk pregnancies to high complexity hospitals in a hospital-based surveillance system can create artifactual clusters. We assessed the referral bias by evaluating the prevalence heterogeneity within each cluster. Eight clusters of selected CAs with unusually high birth prevalence were identified: anencephaly, encephalocele, spina bifida, diaphragmatic hernia, talipes equinovarus, omphalocele, Cleft lip with or without cleft palate (CL/P), and Down syndrome. The clusters of Down syndrome and CL/P observed in this study match the previously reported clusters. These findings support local targeted interventions to lower the prevalence of the CAs and/or further research on the cause of each cluster. The clusters of spina bifida, anencephaly, encephalocele, omphalocele, congenital diaphragmatic hernia, and talipes equinovarus may be influenced by prenatal diagnosis and referral to high complexity hospitals.
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This study was supported by the National Center of Medical Genetics, and the National Program of Rare Diseases and Congenital Anomalies, National Ministry of Health. It was supported by grants from the Agencia Nacional de Promoción Científica y Técnológica, National Ministry of Science and Technology, Buenos Aires, Argentina (PICTO 2011-0147) and the National Ministry of Health (Becas Salud Investiga).
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This article does not contain any studies with human participants or animals performed by any of the authors. This study uses aggregated and anonymous data from a public health surveillance system (RENAC).
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Groisman, B., Gili, J., Giménez, L. et al. Geographic clusters of congenital anomalies in Argentina. J Community Genet 8, 1–7 (2017). https://doi.org/10.1007/s12687-016-0276-2
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DOI: https://doi.org/10.1007/s12687-016-0276-2