Presentation (CTI)

OBJECTIVES: The Portuguese National Neonatal Screening Programme (PNRN) covers 28 diseases and successfully analyses 99% of the newborns in the country. It allows the early diagnosis and treatment of hereditary metabolic diseases and spinal muscular atrophy, among other highly debilitating diseases, responsible for significant morbidity and mortality. Early diagnosis can contribute to better patients’ outcomes and improved patients’ quality of life. This study aimed to investigate the evolution and geographical distribution of the diseases included in the panel of diseases of the PNRN from 2013 to 2023.
METHODS: The PNRN started in 1979 with PKU screening and has evolved to include cystic fibrosis (CF), sickle cell disease (SCD), spinal muscular atrophy (SMA), congenital hypothyroidism (CH) and other hereditary metabolic diseases (HMD). Data was collected from the last 10 public yearly reports of PNRN available. Summary measures of disease incidence were analysed, and temporal and geographical reported.
RESULTS: In total, 971 cases of rare diseases were diagnosed, representing a two-fold increase between 2013 and 2023. This increment was 54% due to incidence increment and 46% due to the addition of SCD and SMA into the panel of screened diseases. The incidence rate was 4.6 and 4.4 cases per 100000 screens for CH and HMD, respectively. This incidence presents an increasing trend since 2013. In 2023, the incidence rate of SMA was 7/100000 and SCD 39.6/100000. The highest incidence of screened rare diseases was found in south region of Portugal (Beja). The remainder of the country revealed a homogeneous distribution of cases.
CONCLUSIONS: Nationwide newborn screening programs are essential to understand the epidemiology of rare diseases. In Portugal newborn screening diseases are increasing in its incidence with a relatively homogeneous distribution across the country.