The National Neonatal Screening Program (PNTN) has been implemented in each Brazilian
state in several phases, which vary according to the diseases screened. It aims to detect
diseases such as phenylketonuria that is a genetic disease, caused by a mutation in the gene
that codes for the enzyme phenylalanine-hydroxylase, active in the liver and responsible for
the transformation of the amino acid phenylalanine (PHE) into tyrosine; Hemoglobinopathies
that result from mutations in the genes encoding the globin alpha (α) and beta (β) chains of
the hemoglobin molecule. With an autosomal recessive inheritance pattern, they are the most
common hereditary disorders in humans, affecting approximately 7% of the world population,
and cystic fibrosis, also called Mucoviscidosis, is an autosomal recessive and chronic genetic
disease with a higher prevalence in people of Caucasian origin. The target audience for
screening are newborns from 0 to 30 days of age. The aim of this study is to assess the
prevalence of diseases triaged by the National Neonatal Screening Program in the state of
Pará in the years 2014, 2015. The present study is a retrospective, descriptive,
epidemiological, quantitative analysis, with data stored in the Laboratory of Research and
Diagnostic Support (LAPAD) consisting of results with laboratory diagnosis of the diseases
sorted, with the following variables: sex, age, first collection event, color, origin and regional.
The study is expected to identify the number of diagnosed cases of diseases triaged by the
PNTN in the state of Pará. As well as mapping the regions with the highest prevalence and
highlighting the variables with the highest frequency / contribution in the cases.
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