Doenças detectadas na triagem neonatal: prevalência e cobertura dos procedimentos

Abstract

The newborn screening is a system that allows the identification of metabolic and genetic conditions, as well as early treatment for the newborns in order to prevent severe diseases development. Hemoglobinopathies, congenital hypothyreodism congenital adrenal hyperplasia, cystic fibrosis, biotinidase deficiency, severe immunodeciency and hearing loss are some examples of diseases that can be found in the newborn screening. With the main objective being elucidate the epidemiological profile of the detected ilnesses in the newborn screening, this arcticle urges to find what is the distribution of the susceptible diseases, associating pertinent specifications to understand the state of the newborn screening process in Passo Fundo. A quantitative, observational, transversal and descriptive study was made from the medical records and informtion on newborns who have had the Guthrie ande ar test done at the Central de Vacinas, component of the city’s Secretaria Municipal da Saúde, with specific data about the alterations in the aforesaid exams, along with age, race and sex from the examined patients in the period from january 1st 2017 until december 31st 2021. Regarding the Heel-Prick Test, 33 patients got altered results, with the following incidences: Congenital Adrenal Hyperplasia 1:1.421, Congenital Hypothyroidism 1:1.624, Cystic Fibrosis 1:1.895, Biotinidase Deficiency 1:2.274, Sickle Cell Disease 1:2.843, Phenylketonuria 1:11.374; furthermore, 69,7% of the sample took the test later than the ideal timing. As long as the Hearing Screening Test, from a 95 individuals sample, 73.7% failed the Hearing Screening Test, moreover, 0,82% of the live born child were diagnosed with definitive hearing loss. As risk factors for failing Hearing Screening Test, admission in Neonatal Intensive Care Unit, antibiotic therapy and exposure to ototoxic medication were higher in incidence. Besides, the predominantly affected population was the male sex.