According to data published this Friday by the National Institute of Health Dr. Ricardo Jorge (INSA), the “heel prick test” identified 150 cases of rare diseases in 2023 among 85,764 infants examined.
Of the 150 cases diagnosed last year, 54 were due to inherited metabolic diseases, 50 to congenital hypothyroidism, six to cystic fibrosis, 34 to sickle cell disease and six to spinal muscular atrophy.
The National Newborn Screening Program (PNRN), called the heel prick test, has screened for 28 pathologies since 1979, identifying 2,692 cases of rare diseases by the end of 2023 after screening 4,224,550 newborns, INSA said. in the statement.
According to the institute, identification of the disease allowed “all patients to immediately begin specific treatment, avoiding intellectual deficits and other irreversible neurological or extra-neurological changes with subsequent morbidity or mortality.”
Although not mandatory, the program currently has a 99.5% coverage rate, with an average treatment start time of approximately 10 days.
In 2023, 85,764 newborns were screened, plus 2,328 “leg tests,” compared with 2022 (83,436), according to the program coordinated by INSA through the Neonatal Screening, Metabolism and Genetics Unit of the Department of Human Genetics.
According to program coordinator and INSA President Fernando de Almeida, the 2023 figures seem to indicate a “return to screening rates identical to those observed in the pre-pandemic period, confirming the increase in screening that has been occurring since 2022.” .
“In 2020, 85,456 babies were studied, and in 2021 this number fell to 79,217, reflecting the decline in fertility that has occurred there,” INSA said, noting that the lowest number previously recorded was in 2013, when it was studied 82,571 newborns.
The “foot test” is performed by collecting a few drops of blood from the baby’s foot to diagnose certain serious conditions that are clinically difficult to detect in the first weeks of life and which can later cause mental retardation and neurological changes. problems, liver changes or even coma.
Author: Lusa
Source: CM Jornal
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