[50 years of the Neonatal Screening Program in Catalonia.]

Area of Science:

• Public Health
• Clinical Biochemistry
• Genetics

Background:

• Established in 1969 in Barcelona, the Catalonian Newborn Screening Program (CNSP) aimed to prevent mental retardation.
• Initially focused on phenylketonuria (PKU), the program expanded over decades to include more conditions.

Observation:

• The CNSP has progressively expanded its screening panel, incorporating congenital hypothyroidism (1982), cystic fibrosis (1999), sickle cell disease (2015), and severe combined immunodeficiency (2017).
• A major expansion in 2013 added 19 metabolic diseases, bringing the total to 24 diseases in the current panel.
• Screening coverage reached nearly 100% of newborns in Catalonia by 1990.

Findings:

• Since 1969, 2,787,807 newborns have been screened.
• 1,724 newborns were diagnosed with diseases included in the main panel, with an additional 252 diagnosed through differential diagnosis.
• The overall prevalence of screened disorders is 1:1,617, or 1:1,140 when including incidental findings.

Implications:

• The CNSP demonstrates a successful, long-term public health initiative for early detection of genetic and metabolic disorders in newborns.
• The program's evolution highlights the importance of expanding newborn screening panels to cover a wider range of treatable conditions.
• Early diagnosis through comprehensive newborn screening is crucial for timely intervention and improved long-term health outcomes, including the prevention of intellectual disability.