Quality evaluation of newborn screening programs

Area of Science:

• Medical Genetics
• Public Health
• Biochemistry

Background:

• Newborn screening programs have expanded globally over four decades, traditionally focusing on phenylketonuria and congenital hypothyroidism.
• Technological advancements enable screening for a broader range of disorders, yet program scope varies significantly between countries.
• Decision-making for screening protocols is influenced by professional interest, legislation, and funding, leading to disparities.

Purpose of the Study:

• To assess the global landscape of newborn screening programs.
• To identify variations in organization, quality evaluation, and follow-up procedures.
• To provide insights for improving worldwide newborn screening practices.

Main Methods:

• A questionnaire was developed and distributed to leading newborn screening centers in over 30 countries.
• Data collected focused on program organization, analytical, pre-analytical, and post-analytical phases.
• Results were analyzed to identify global differences and trends.

Main Results:

• Significant international variations were observed in program organization, turnaround times, coverage completeness, and follow-up.
• Quality evaluation predominantly focused on the laboratory analytical phase, with less attention to pre- and post-analytical stages.
• No correlation was found between screening procedures and the level of legislation or funding systems.

Conclusions:

• Global newborn screening programs exhibit substantial heterogeneity in structure and quality assurance.
• A comprehensive approach to quality evaluation, encompassing all phases, is crucial for effective newborn screening.
• Further research and international collaboration are needed to standardize and optimize newborn screening worldwide.