Background Birth weight influences profiles of dried blood amino-acids and acylcarnitines in newborn screening. This study aimed to define a more appropriate cut-off value to reduce the false positive rate and the number of recalled patients in newborn screening. Methods All babies who underwent newborn screening in our center were included; they were divided into groups by birth weight: 2500-3999 g (comparator group), <1000 g (group 1), 1000-1499 g (group 2), 1500-2499 g (group 3), and >4000 g (group 4). The 0.5th and 99.5th percentiles were used as the cut-off values. Comparisons were done on amino acid and acylcarnitines concentrations between the groups. False positive rate, positive predictive value, corrected false positive rate by birth weights were determined. Results Data on a total of 578,287 newborn infants were included in the analysis. The total false positive rate was 0.75%, and positive predictive value 2.89%. The false positive rate was 0.69%, 0.54% and 5.31% in infants with normal birth weight, birth weight of >4000 (group 4) and low birth weight of < 2500 g (groups 1, 2 and 3), respectively. Low-birth weight infants had much higher phenylalanine, tyrosine, methionine, arginine, propionylcarnitine, isovalerylcarnitine and octadecanoylcarnitine concentrations. Free carnitines and palmitoylcarnitine concentrations were lower. After adjusting for birth weight, false positive rate of all indices decreased to 0.53%, and positive predictive value increased to 4.31%. Conclusions Amino acid and carnitine concentrations in low-birth weight newborn infants may differ from the normal term newborn infants. The cut-off values of individual metabolites should be adjusted based on birth weight, to reduce false positive rate and increase positive predictive value.
Keywords: Tandem mass spectrometry; birth weight; false positive rate; newborn screening.