Journal of Community Genetics

, Volume 5, Issue 2, pp 147–155

Health needs assessment for congenital anomalies in middle-income countries: Examining the case for neural tube defects in Brazil

  • Lavinia Schuler-Faccini
  • Maria Teresa V. Sanseverino
  • Lígia Marques de Rocha Azevedo
  • Sowmiya Moorthie
  • Corinna Alberg
  • Susmita Chowdhury
  • Gurdeep S. Sagoo
  • Hilary Burton
  • Luis C. Nacul
Original Article

DOI: 10.1007/s12687-013-0165-x

Cite this article as:
Schuler-Faccini, L., Sanseverino, M.T.V., de Rocha Azevedo, L.M. et al. J Community Genet (2014) 5: 147. doi:10.1007/s12687-013-0165-x

Abstract

Recent economic improvement in Brazil has been reflected in better maternal–child health indicators, with decreases in infant and perinatal mortality. However, under-five mortality due to congenital disorders remained unchanged, and congenital disorders have become the second leading cause of infant mortality. In the present study, we used the PHG Foundation Health Needs Assessment (HNA) Toolkit with the objective of first assessing the burden of disease caused by neural tube defects (NTDs) in Brazil and the impact of interventions already put in place to address the burden, and second to evaluate and prioritize further interventions and policies required for its prevention and treatment. The results from these two components of the HNA process are described in this paper. The published literature was reviewed to identify studies of NTDs (prevalence; morbidity; prenatal, perinatal, and postnatal mortality; treatment or prevention). Data on indicators of maternal and child health were obtained directly from the Brazilian Ministry of Health, through the online Live Births Information System (SINASC) and from the Mortality Information System (SIM). Descriptive analyses included reports of the rates of NTD in liveborns, fetal, and infant deaths. Differences between folic acid flour pre-fortification (2001–2004) and post-fortification (2006–2010) periods were expressed as prevalence rate ratios. Around 20 % of fetal deaths were related to congenital disorders with approximately 5 % of those being NTDs. For infant mortality, congenital disorders were notified in approximately 15 % of cases, with NTDs present in 10 % of the malformed children. Although statistically significant, the prevalence rate ratio (PRR) for spina bifida in live births was only 0.937 (95 % confidence interval (CI) 0.884–0.994), a decrease of 6.3 % when comparing the pre and post-fortification periods. The impact of fortification seemed to be more visible in fetal deaths due to anencephaly (PRR = 0.727, 95 % CI 0.681–0.777) and for spina bifida (PRR = 0.700, 95 % CI 0.507–0.967) with associated decreases of 27.3 and 30 %. The lower impact of folic acid fortification in Brazil, compared to other Latin-American countries, can be due to differences in dietary habits, concentration of folic acid in flour, as well as characteristic population ethnic composition. The HNA led to the identification of the needs to be addressed in Brazil, including the improvement of reporting congenital disorders within the nationwide birth certification system, and revision of the policy of flour folic acid fortification.

Keywords

Neural tube defects Folic acid fortification Brazil Health Needs Assessment 

Copyright information

© Springer-Verlag Berlin Heidelberg 2013

Authors and Affiliations

  • Lavinia Schuler-Faccini
    • 1
    • 2
    • 4
  • Maria Teresa V. Sanseverino
    • 1
  • Lígia Marques de Rocha Azevedo
    • 2
  • Sowmiya Moorthie
    • 3
  • Corinna Alberg
    • 3
  • Susmita Chowdhury
    • 3
  • Gurdeep S. Sagoo
    • 3
  • Hilary Burton
    • 3
  • Luis C. Nacul
    • 3
  1. 1.INAGEMP (Instituto Nacional de Genética Médica Populacional) at Teratogen Information Service, Medical Genetics ServiceHospital de Clínicas de Porto AlegrePorto AlegreBrazil
  2. 2.INAGEMP at Genetics DepartmentUniversidade Federal do Rio Grande do SulPorto AlegreBrazil
  3. 3.Foundation for Genomics and Population Health (PHG Foundation)CambridgeUK
  4. 4.Genetics DepartmentFederal University of Rio Grande do SulPorto AlegreBrazil

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