Silvestri Melkan Mariana Pereira Inácio, Ferreira Ornella Scardua, Bassan Livia Carolina Leonardo, Brizot Maria de Lourdes, Francisco Rossana Pulcineli Vieira, Rodrigues Agatha Sacramento, Azevedo Carvalho Mariana
Department of Obstetrics, Faculdade de Medicina FMUSP, Universidade de Sao Paulo, Sao Paulo, Brazil.
Department of Statistics, Universidade Federal do Espírito Santo UFES, Espírito Santo, Brazil.
PLoS One. 2025 Jun 6;20(6):e0323654. doi: 10.1371/journal.pone.0323654. eCollection 2025.
Congenital anomalies contribute significantly to morbidity and mortality among newborns and infants. In Brazil, the estimated prevalence of malformations in newborns is < 1%, which is comparatively lower than that recorded in other regions worldwide. This study aimed to analyze the prevalence of congenital anomalies in Brazil over a 10-year period and to identify potential associations of this prevalence with socioeconomic, gestational, and regional factors by performing an analysis using data sourced from the Live Birth Information System (Sistema de Informações sobre os Nascidos Vivos - SINASC) covering the period from 2011 to 2020.
From a total population of 29,025,461 live births, we included a cohort of 240,405 newborns with congenital anomalies. For the purpose of this study, we categorized newborns with congenital anomalies into two groups: one group with newborns with a single major malformation and another group with newborns with multiple major malformations (minor malformations not considered).
The prevalence of congenital anomalies was 8.0 per 1,000 live births, with variations across different years and regions within the country. The Southeast region of Brazil, with the highest human development index, displayed the highest prevalence of congenital anomalies. The most frequent congenital anomalies were limb deformities (29.7%), neural tube defects (14.7%), and heart defects (11.6%).
The prevalence of major congenital anomalies in Brazil during the study period varied with the geographic region and was lower than that in developed nations, likely due to lower prenatal detection rates and underreporting.
先天性异常对新生儿和婴儿的发病率和死亡率有重大影响。在巴西,新生儿畸形的估计患病率<1%,这一比例相对低于世界其他地区的记录。本研究旨在分析巴西10年间先天性异常的患病率,并通过使用来自活产信息系统(Sistema de Informações sobre os Nascidos Vivos - SINASC)2011年至2020年期间的数据进行分析,确定该患病率与社会经济、妊娠和区域因素之间的潜在关联。
在总共29,025,461例活产中,我们纳入了240,405例患有先天性异常的新生儿队列。为了本研究的目的,我们将患有先天性异常的新生儿分为两组:一组是患有单一主要畸形的新生儿,另一组是患有多种主要畸形的新生儿(不考虑次要畸形)。
先天性异常的患病率为每1000例活产8.0例,在该国不同年份和地区存在差异。巴西人类发展指数最高的东南部地区,先天性异常的患病率也最高。最常见的先天性异常是肢体畸形(29.7%)、神经管缺陷(14.7%)和心脏缺陷(11.6%)。
在研究期间,巴西主要先天性异常的患病率因地理区域而异,且低于发达国家,这可能是由于产前检测率较低和报告不足所致。