NEONATAL SCREENING TEST: THE EARLY DIAGNOSIS OF METABOLIC AND GENETIC DISEASES

Abstract

INTRODUCTION: The heel prick test has os its main objective to identify metabolic alterations that initially may present without symptoms, and this can end up harming the baby's health. In this test, some diseases such as: congenital hypothyroidism (CH), congenital adrenal hyperplasia (HAC), phenylketonuria (PKU), cystic fibrosis (CF), hemoglobinopathies (Hb), biotinidase deficiency (DB), among others, can be identified. The exam is performed with a small puncture in the baby's heel, and can be performed even in the maternity ward after the newborn is 48 hours old. To achieve good results, it is important that the collection of the blood sample has been collected correctly and in a timely manner. As neonatais screening tests are of great importance for the baby's health, seek information on the early diagnosis of diseases in the literature. metabolic and genetic factors and verifying their effectiveness becomes an indispensable factor. Thus, this study, which will be carried out through investigations in scientific articles, can serve as a parameter and add significantly to the literature. OBJECTIVE: The objective of this study is to investigate through scientific articles the early diagnosis of metabolic and genetic diseases in children newborns. METHODOLOGY: The research was carried out based on scientific articles that are available in online databases. Studies indexed in the following databases were used: SCIELO (Scientific Online Library), MEDLINE (Medical Literature Analysis and Retrieval System Online), PUBMED (National Library of Medicine, National Institutes of Health, USA) and CAPES Portal. The following inclusion criteria were used: original articles of electronic publication, published between the years 2016 to 2021, in Portuguese and English related to the theme, which include accurate information and that are in accordance with the desired objective. Articles where the abstract does not match the objectives of the study and articles repeated in the databases, as well as articles from years prior to 2016, were excluded from the study. RESULTS: 32 documents were preliminarily identified and the final sample consisted of 11 articles. As for the time interval (2016 to 2021), the years 2016 (18.18%; n=2) and 2021 (18.18%; n=2) stood out. PubMed stood out among the search channels (72.73%; n=8) in the English language.CONCLUSION: Neonatal screening, popularly known as "foot test" allows tracking individuals likely to present certain pathologies, performing the diagnosis at an early stage and instituting specific treatment, in order to avoid serious sequelae and increase the survival of those affected.