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Birth defects in newborns and stillborns: an example of the Brazilian reality

Camila Ive Ferreira Oliveira1, Antonio Richieri-Costa2, Valéria Cristina Carvalho Ferrarese3, Denise Cristina Móz Vaz4 and Agnes Cristina Fett-Conte3*

Author Affiliations

1 Departamento de Biologia, Instituto de Biociências, Letras e Ciências Exatas, Universidade Estadual Paulista - UNESP, São José do Rio Preto, SP, Brasil

2 Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo - USP, Bauru, SP, Brasil

3 Departamento de Biologia Molecular, Faculdade de Medicina de São José do Rio Preto, São José do Rio Preto, SP, Brasil

4 Departamento de Ginecologia e Obstetrícia, Faculdade de Medicina de São José do Rio Preto, São José do Rio Preto, SP, Brasil

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BMC Research Notes 2011, 4:343  doi:10.1186/1756-0500-4-343

Published: 9 September 2011



This study constitutes a clinical and genetic study of all newborn and stillborn infants with birth defects seen in a period of one year in a medical school hospital located in Brazil. The aims of this study were to estimate the incidence, causes and consequences of the defects.


For all infants we carried out physical assessment, photographic records, analysis of medical records and collection of additional information with the family, besides the karyotypic analysis or molecular tests in indicated cases.


The incidence of birth defects was 2.8%. Among them, the etiology was identified in 73.6% (ci95%: 64.4-81.6%). Etiology involving the participation of genetic factors single or associated with environmental factors) was more frequent 94.5%, ci95%: 88.5-98.0%) than those caused exclusively by environmental factors (alcohol in and gestational diabetes mellitus). The conclusive or presumed diagnosis was possible in 85% of the cases. Among them, the isolated congenital heart disease (9.5%) and Down syndrome (9.5%) were the most common, followed by gastroschisis (8.4%), neural tube defects (7.4%) and clubfoot (5.3%). Maternal age, parental consanguinity, exposure to teratogenic agents and family susceptibility were some of the identified risk factors. The most common observed consequences were prolonged hospital stays and death.


The current incidence of birth defects among newborns and stillbirths of in our population is similar to those obtained by other studies performed in Brazil and in other underdeveloped countries. Birth defects are one of the major causes leading to lost years of potential life. The study of birth defects in underdeveloped countries should continue. The identification of incidence, risk factors and consequences are essential for planning preventive measures and effective treatments.