The “heel prick test” made it possible to identify, in 2023, 150 cases of rare diseases among the 85.764 babies studied, reveal data released today by the Doctor Ricardo Jorge National Health Institute (INSA).
Of the 150 cases diagnosed last year, 54 are of hereditary metabolic diseases, 50 of congenital hypothyroidism, six of cystic fibrosis, 34 of sickle cell disease and six of spinal muscular atrophy.
The National Neonatal Screening Program (PNRN), called “heel prick test”, has carried out screening tests for 1979 pathologies since 28, having identified 2023 cases of rare diseases by the end of 2.692, following screening carried out on 4.224.550 newborns, INSA said in a statement.
According to the institute, the identification of the disease made it possible for «all patients to immediately begin specific treatment, avoiding intellectual deficit and other irreversible neurological or extraneurological changes, with consequent morbidity or mortality».
Although not mandatory, the program currently has a coverage rate of 99,5%, with the average time to start treatment being around 10 days.
In 2023, 85.764 newborns were studied, plus 2.328 “foot tests” compared to the year 2022 (83.436), according to data from the program coordinated by INSA, through its Neonatal Screening, Metabolism and Genetics Unit of the Department of Human Genetics .
For the program coordinator and president of INSA, Fernando de Almeida, the 2023 numbers seem to indicate «a return to screening values identical to those seen in the pre-pandemic period, confirming the increase in screenings that has been occurring since 2022» .
«In 2020, 85.456 babies were studied, a value that dropped to 79.217 in 2021, reflecting the decrease in birth rates that occurred there», says INSA, noting that the lowest value until then had been recorded in 2013, with 82.571 newborns studied .
The “foot test” is carried out by collecting a few droplets of blood from the child's foot, to diagnose some serious illnesses that are clinically difficult to identify in the first weeks of life, and which can later cause mental retardation and neurological changes. serious problems, liver changes or even coma.
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