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Ethnic Variability in Newborn Metabolic Screening Markers Associated with False-Positive Outcomes. Journal of inherited metabolic disease Peng, G. n., Tang, Y. n., Gandotra, N. n., Enns, G. M., Cowan, T. M., Zhao, H. n., Scharfe, C. n. 2020

Abstract

Newborn screening (NBS) programs utilize information on a variety of clinical variables such as gestational age, sex and birth weight to reduce false-positive screens for inborn metabolic disorders. Here we study the influence of ethnicity on metabolic marker levels in a diverse newborn population. NBS data from screen-negative singleton babies (n = 100?000) were analyzed, which included blood metabolic markers measured by tandem mass spectrometry and ethnicity status reported by the parents. Metabolic marker levels were compared between major ethnic groups (Asian, Black, Hispanic, White) using effect size analysis, which controlled for group size differences and influence from clinical variables. Marker level differences found between ethnic groups were correlated to NBS data from 2532 false-positive cases for four metabolic diseases: glutaric acidemia type 1 (GA-1), methylmalonic acidemia (MMA), ornithine transcarbamylase deficiency (OTCD), and very long-chain acyl-CoA dehydrogenase deficiency (VLCADD). In result, 79% of the metabolic markers (34 of 43) had ethnicity-related differences. Compared to the other groups, Black infants had elevated GA-1 markers (C5DC, Cohen's d = 0.37, P 

View details for DOI 10.1002/jimd.12236

View details for PubMedID 32216101