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Association between newborn screening analyte profiles and infant mortality

Fell DB, Wilson LA, Hawken S, Spruin S, Murphy M, Potter BK, Little J, Chakraborty P, Lacaze-Masmonteil T, Wilson K. J Matern Fetal Neonatal Med. 2021; 34(5):835-8. Epub 2019 May 2. DOI: 10.1080/14767058.2019.1615048.

Objective — To assess whether newborn screening analytes could be utilized beyond their traditional application to identify infants at high risk of mortality within the first 6 months of life.

Methods — We linked a province-wide newborn screening registry with health administrative databases to identify infant deaths within 6 months in a source population of live-born infants between 2010 and 2014. We used a nested case-control study design, in which all infant deaths between 7 days and 6 months of age were included as cases, and a random sample of infants from the source population were selected as controls and were matched to cases at a ratio of 10:1. We examined the association between mortality and screening analytes (acylcarnitines, amino acids, fetal-to-adult hemoglobin ratio, endocrine markers, and enzymes) using lasso regression to fit multivariable models.

Results — Among 350 infant deaths between 7 days and 6 months of age, and 3498 matched controls with complete data, our multivariable model demonstrated only modest ability to identify infant deaths (optimism-corrected c-statistic: 0.61, 95% confidence interval: 0.50–0.71).

Conclusion — We did not find newborn screening analytes to be strongly predictive of infant mortality between 7 days and 6 months of age in the general population of newborns. Future studies should investigate whether predictive modeling within more homogeneous cause-of-death categories could lead to improved predictive ability for infant mortality.