Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010

Area of Science:

• Medical Genetics
• Public Health
• Biochemistry

Background:

• Neonatal screening (NBS) began in Europe in the 1960s, initially for phenylketonuria.
• Technological advancements like tandem mass spectrometry (MS/MS) and molecular technologies have expanded NBS capabilities.
• Recent additions include screening for cystic fibrosis, severe combined immunodeficiency, and spinal muscular atrophy.

Purpose of the Study:

• To survey developments in European neonatal screening programs between 2010 and 2020.
• To highlight achievements and identify areas for future progress in NBS.
• To emphasize the importance of international collaboration in rare disease detection.

Main Methods:

• Data collection from 51 European countries.
• Analysis of changes in NBS methodologies and screened conditions.
• Review of technological adoptions and program expansions.

Main Results:

• Most European NBS programs matured significantly between 2010 and 2020.
• Methodologies were modernized, and the number of screened conditions expanded.
• Increased collaboration among European organizations is evident.

Conclusions:

• European neonatal screening has advanced considerably in the last decade.
• Further progress requires enhanced knowledge exchange and collaboration between countries.
• Collective efforts are essential for effective early detection and intervention for rare newborn diseases.