Data from the National Neonatal Screening Program (PNRN), coordinated by the National Institute of Health Dr. Ricardo Jorge (INSA), revealed that 87,708 newborns were screened last year—an increase of 3,077 from 2024, when there were 84,631 births.
The data indicate that Madeira and Santarém were the only regions in the country that saw fewer births in 2025 compared to the previous year, totaling 1,704 (down 48) and 2,852 (down 22) respectively. Lisbon had the highest number of screened newborns, totaling 26,595—739 more than in 2024—followed by Porto with 15,255 (up 733) and Braga with 6,534 (up 246).
The “heel prick test” is conducted through blood tests starting from the third day of life up to the sixth day, involving one or two small pricks on the baby’s heel.
According to the data, the fewest tests were recorded in the districts of Portalegre, with 574, and Bragança, with 587, although both experienced increases of 27 and 93 screenings, respectively, compared to the previous year. July was the month with the highest number of screened babies (8,118), followed by October (8,104) and September (7,886).
Since 1979, a total of 4,396,889 newborns have been screened, with 2,963 cases of rare diseases identified, according to INSA data provided to Lusa. These tests help identify children with diseases, almost always genetic, such as phenylketonuria or congenital hypothyroidism, which can benefit from early treatment.
In 2025, 57 cases of hereditary metabolic diseases, 26 cases of congenital hypothyroidism, six cases of cystic fibrosis, 10 cases of spinal muscular atrophy, one case of severe combined immunodeficiency, and 47 cases of sickle cell disease were identified, totaling 147 cases.
The National Neonatal Screening Program is coordinated by INSA through its Neonatal Screening, Metabolism, and Genetics Unit within the Human Genetics Department.
