The heel prick test is considered the most effective way to diagnose early genetic, metabolic and infectious diseases that can affect the development of children. In May 2021, Law No. 14,154 increased the number of rare diseases detected by examination via the Unified Health System (SUS) to more than 50. Just over two years later, on the National Foot Test Day, remembered this Tuesday (6), the Brazilian Society of Neonatal Screening and Inborn Metabolism Errors assesses that the test is expanding in Brazil. The phase classified as ideal for carrying out the test is between the third and fifth day of life. “It is from this drop of blood that a person’s future is drawn, giving the opportunity to act early in the treatment of serious illnesses”, highlighted the entity on social networks. The vice-president of the society, Carolina Fischinger, reinforced the importance of collecting blood at the right time. “The detection of these diseases prevents important clinical consequences because they are treatable conditions. I also remember that we have a law that provides for the expansion to more diseases, enabling the early diagnosis of serious genetic diseases that have treatment available.” List of diseases Prior to Law No. 14,154, SUS performed a heel prick test format capable of detecting only six diseases. With the new legislation, the exam now encompasses 14 groups of diseases, which can identify up to 53 different types of illnesses and special health conditions. The changes proposed by the text, however, only started to take effect in May last year and the process of expanding the test should happen in a staggered way. In the first stage of implementation, the heel prick test continues to detect the six initial diseases, expanding to the testing of others related to excess phenylalanine and pathologies related to hemoglobin (hemoglobinopathies), in addition to including diagnoses for congenital toxoplasmosis. In a second stage, tests for galactosemia would be added; aminoacidopathies; urea cycle disorders; and disorders of fatty acid beta oxidation (failure to transform certain types of fat into energy). For the third stage, there are lysosomal diseases (which affect cell functioning) and, in the fourth stage, primary immunodeficiencies (genetic problems in the immune system). In the fifth stage, spinal muscular atrophy (degeneration and loss of neurons in the spinal cord and brain stem, resulting in progressive muscle weakness and atrophy) will begin to be tested. Public x private The law also provides that, during prenatal care and labor, health professionals must inform the pregnant woman and her companions about the importance of the heel prick test and about any differences between the modalities offered in the SUS and the private health network. Art/Agency Brazil
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