The Laboratory of Epidemiology of Congenital Malformations (LEMC) of the Instituto Oswaldo Cruz (IOC/Fiocruz) coordinates a Latin American collaborative study of congenital malformations and acts as a Reference Service with the Ministry of Health in the area. Among its activities, it develops clinical and epidemiological research, in addition to surveillance actions, in several countries, and is dedicated to the study of population genetics, evaluates the actions of the Unified Health System (SUS) for the prevention of birth defects and carries out actions of health education on the topic.
In the Latin American context, the Laboratory coordinates 86 hospitals participating in an international initiative for clinical monitoring and epidemiological surveillance of congenital malformations. The work includes the identification and evaluation of genetic and environmental factors in the causality of congenital anomalies, so that it is possible to support preventive actions aimed at population groups at risk, in addition to epidemiologically delimiting dysmorphological phenotypes that facilitate the identification of pathogenic malformations. For this, a longitudinal case-control methodology is used, for 50 risk factors, in a sample of newborns.
In another line of research, the Laboratory evaluates SUS actions for the prevention of birth defects, in particular the rubella vaccination campaign and the fortification of flours with folic acid. The assessments mainly address two aspects, analyzed in grouped regions: the prevalence rates at birth of oculocardiac defects and neural tube defects, especially open spina bifida. Furthermore, the researchers are working towards validating the quality of the data recorded in the 'Congenital Malformation and/or Chromosomal Anomaly' field of the Live Birth Certificate (DNV), at the national level.
The Laboratory is also dedicated to the study of population genetics, focusing on the mechanisms associated with genetic risk conditions for certain populations. The objective is to identify Brazilian populations stigmatized by congenital alterations attributable to reproductive patterns of inbreeding or to avoidable environmental factors, to develop community scientific education tools and apply them in a limited number of communities, as a pilot test for the production of recommendations addressed to municipal authorities. , state and national. It is estimated that the target population to benefit from these educational activities is around 33 million people, concentrated in rural or semi-rural communities in less developed areas of the country.
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