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

Camila Ive Ferreira Oliveira-Brancati1, Valéria Cristina Carvalho Ferrarese1, Antonio Richieri Costa2

  • 1Faculdade de Medicina de São José do Rio Preto (FAMERP/FUNFARME), São José do Rio Preto, SP, Brazil.

Genetics and Molecular Biology
|August 21, 2019
PubMed

Insights

Birth defects affect 3.2% of infants, with heart conditions and Down syndrome being most common. Advanced maternal age and family history are key risk factors for these congenital anomalies.

Area of Science:

  • Public Health
  • Pediatrics
  • Genetics

Background:

  • Birth defects (BDs) represent significant causes of infant mortality and lifelong disability, impacting approximately 3-5% of newborns.
  • Understanding the incidence and risk factors of congenital anomalies is crucial for public health interventions and improved infant outcomes.

Purpose of the Study:

  • To determine the incidence of birth defects in a Brazilian population.
  • To identify the most common congenital anomalies and associated risk factors.

Main Methods:

  • A population-based prospective case-control study was conducted over one year involving 5204 infants.
  • Data collection spanned from March 1st, 2011, to February 29th, 2012, in São José do Rio Preto, Brazil.

Main Results:

  • The overall incidence of birth defects was 3.2% (95%CI: 2.8-3.8%).
  • The most frequent anomalies included heart diseases (11.2%), Down syndrome (9.5%), neural tube defects (8.9%), urinary tract anomalies (7.7%), and polydactyly (7.0%).
  • Advanced maternal age was linked to Down syndrome cases, while family history, maternal alcohol consumption, gestational diabetes, and prior miscarriages were identified as frequent risk factors.

Conclusions:

  • The study established a 3.2% incidence of birth defects in the studied region.
  • The higher incidence of Down syndrome compared to international data may be associated with the region's socioeconomic factors leading to delayed childbearing.
  • Identifying specific risk factors like advanced maternal age and lifestyle choices can inform targeted prevention strategies for birth defects.

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