Analytical performance specifications based on the state-of-the-art for the newborn screening

Area of Science:

• Clinical Chemistry
• Biochemistry
• Public Health

Background:

• Analytical performance specifications (APS) are currently unavailable for newborn screening (NBS) measurands based on the Milan consensus models.
• There is a need for robust APS to ensure the quality of NBS testing.

Purpose of the Study:

• To establish total error (TE) APS for NBS measurands using state-of-the-art (SOTA) data.
• To provide a benchmark for analytical performance in NBS laboratories.

Main Methods:

• Utilized 23,662 results from the Spanish NBS External Quality Assessment (EQA) scheme (May 2015-September 2018).
• Calculated TE APS as the 90th percentile of measurement errors, focusing on the best 75% of results per laboratory.
• Analyzed 17 common NBS measurands, including TSH, IRT, and various acylcarnitines.

Main Results:

• TE APS varied among measurands when all methods were considered; TSH, IRT, C16, and C18 demonstrated the best performance, while Phe, C5DC, and C10 showed the poorest.
• Analytical performance generally improved (TE APS decreased) when focusing on majority methods.
• Higher TE APS were observed at lower analyte concentrations, indicating concentration-dependent performance.

Conclusions:

• The proposed TE APS, based on SOTA, offer a practical solution for NBS laboratories in the absence of Milan consensus-based APS.
• These specifications can aid NBS laboratories in establishing and maintaining high-quality testing standards.
• The findings highlight the importance of considering method and concentration when evaluating NBS analytical performance.