Association between newborn screening analyte profiles and infant mortality

Area of Science:

• Neonatal Health
• Biomarker Discovery
• Public Health

Background:

• Newborn screening (NBS) typically identifies inborn errors of metabolism.
• Exploring novel applications for NBS analytes is crucial for infant health.
• Infant mortality remains a significant public health concern.

Purpose of the Study:

• To evaluate if NBS analytes can predict infant mortality within the first six months of life.
• To assess the predictive capability of various NBS analytes beyond their standard diagnostic use.
• To identify infants at high risk for mortality using existing screening data.

Main Methods:

• A province-wide registry linkage of NBS data with health administrative databases (2010-2014).
• Nested case-control study design including infant deaths (7 days to 6 months) and matched controls (1:10 ratio).
• Lasso regression used to analyze associations between mortality and NBS analytes (acylcarnitines, amino acids, hemoglobin ratio, endocrine markers, enzymes).

Main Results:

• The study included 350 infant deaths and 3498 controls with complete data.
• Multivariable models showed modest predictive ability for infant mortality (optimism-corrected c-statistic: 0.61).
• NBS analytes were not strongly predictive of mortality in the general newborn population.

Conclusions:

• Current NBS analytes lack strong predictive power for infant mortality in the general population.
• Future research should focus on cause-specific mortality for improved prediction.
• Investigating homogeneous subgroups may enhance the utility of predictive modeling for infant deaths.