[PROVISIONAL] Birth defects in Brazil: Outcomes of a population-based study

• Main Authors: Camila Ive Ferreira Oliveira-Brancati, Valéria Cristina Carvalho Ferrarese, Antonio Richieri Costa, Agnes Cristina Fett-Conte
• Format: Article
• Language: English
• Published: Sociedade Brasileira de Genética
• Series: Genetics and Molecular Biology
• Subjects: malformation; congenital anomaly; fetal development; genetic counseling; public health
• Online Access: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019005032101&lng=en&tlng=en

Abstract Birth defects (BDs) are functional and structural alterations in embryonic or fetal development. With an incidence of approximately 3-5%, BDs are a leading cause of infant mortality and lifelong disability. A population-based prospective case-control study was conducted for one year with 5204 infants, between 1st March 2011 and 29th February 2012, in the city of São José do Rio Preto, State of São Paulo, Brazil. The incidence of BDs was 3.2% [95% confidence interval (95% CI): 2.8-3.8%]. The most common congenital anomalies were heart diseases in isolation (11.2%; 95% CI: 7.3-16.9%) followed by Down syndrome (9.5%; 95% CI: 5.9-14.8%), neural tube defects (8.9%; 95% CI: 5.4-14.1), urinary tract anomalies (7.7%; 95% CI: 4.4-12.7%), and polydactyly (7.0%; 95% CI: 4.0-12.0%). The majority of mothers with Down syndrome babies had advanced age. Family members with the same BD, maternal alcohol consumption, gestational diabetes and previous miscarriages were the most frequently identified risk factors. The results were similar to published data from other countries except for the incidence of Down syndrome, which was twice as high as reported by other authors and is probably due to the high sociocultural level of the region where the current study was performed.