Reis Luzivan Costa, Kaizer Wesley Luciano, Boquett Juliano André
Post-graduate Program in Genetics and Molecular Biology, Department of Genetics, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, 91501-970, Brazil.
Post-graduate Program in Informatics, Department of Informatics, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, 91501-970, Brazil.
J Community Genet. 2021 Jul;12(3):377-386. doi: 10.1007/s12687-021-00509-4. Epub 2021 Jan 26.
In the 2010-2014 period, the mean prevalence of congenital anomalies (CA) in the world was estimated at 398/10,000 births. CA are an important cause of mortality, disability, and comorbidity. Thus, the present study aims to describe the geographical and temporal distributions of live births and infant mortality (IM) due CA (IM-CA) in Brazil, from 2012 to 2017. The data used in this study is available at the Department of Informatics of the Unified Health System (DATASUS). The prevalence of CA at birth was 81.67/10,000 (95% CI 80.46-82.88), and the IM-CA rate was 27.97/10,000 (95% CI 27.95-28.00) in the studied period. The five CA with the highest rates were polydactyly (9.66/10,000, 95% CI 6.10-9.82), Down syndrome (3.40/10,000, 95% CI 3.41-5.99), microcephaly (2.92/10,000, 95% CI 2.91-3.12), hydrocephalus (2.72/10,000, 95% CI 2.65-2.90), and spina bifida (2.44/10,000, 95% CI 2.43-2.64). São Paulo was the Brazilian state with the highest CA birth rate (119.3/10,000), and Amazonas was the state with the highest IM-CA rate (33.8/10,000). The description and data analyses such as those performed in this work are relevant for healthcare systems and can be very useful in the formulation of public health campaigns and policies, as well as informing and educating professionals and the population. The management of clinical actions should consider all social, economic, geographic, and epidemiological factors.
在2010 - 2014年期间，全球先天性异常（CA）的平均患病率估计为每10000例出生中有398例。先天性异常是导致死亡、残疾和合并症的重要原因。因此，本研究旨在描述2012年至2017年巴西因先天性异常导致的活产和婴儿死亡率（IM - CA）的地理和时间分布。本研究使用的数据可在统一卫生系统信息部（DATASUS）获取。在研究期间，出生时先天性异常的患病率为每10000例中有81.67例（95%置信区间80.46 - 82.88），因先天性异常导致的婴儿死亡率为每10000例中有27.97例（95%置信区间27.95 - 28.00）。发病率最高的五种先天性异常为多指畸形（每10000例中有9.66例，95%置信区间6.10 - 9.82）、唐氏综合征（每10000例中有3.40例，95%置信区间3.41 - 5.99）、小头畸形（每10000例中有2.92例，95%置信区间2.91 - 3.12）、脑积水（每10000例中有2.72例，95%置信区间2.65 - 2.90）和脊柱裂（每10000例中有2.44例，95%置信区间2.43 - 2.64）。圣保罗是巴西先天性异常出生率最高的州（每10000例中有119.3例），而亚马孙州是因先天性异常导致婴儿死亡率最高的州（每10000例中有33.8例）。本研究中所进行的描述和数据分析对医疗系统具有重要意义，在制定公共卫生运动和政策以及为专业人员和公众提供信息与教育方面可能非常有用。临床行动的管理应考虑所有社会、经济、地理和流行病学因素。
