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<p>Neonatal amino acid concentrations are modulated by gestational age and birth weight due to developmental immaturity, altered protein turnover, and metabolic adaptation. Current newborn screening (NBS) programs often ignore these variables, increasing false-positive and false-negative rates. Objective of this study is to establish gestational age- and birth weight-specific reference intervals for amino acids in Indian neonates using LC–MS/MS, with implications for precision in NBS and metabolic assessment. A cross-sectional analysis of 2486 neonates was conducted using dried blood spots collected ≥ 24&#xa0;h post-birth. Quantification of 11 amino acids was performed using the NeoBase™ non-derivatized kit on a 3200MD QTrap LC–MS/MS system. Neonates were stratified by WHO-defined gestational age and birth weight categories. Reference intervals (2.5th–97.5th percentiles) were derived using ANOVA with Tukey post hoc correction. Preterm and low birth weight neonates demonstrated elevated levels of most amino acids, notably branched-chain and gluconeogenic types, while citrulline remained stable across strata. These findings reflect metabolic immaturity and adaptive catabolism. Reference percentiles specific to gestational and weight categories were generated, improving interpretive accuracy. This is the largest Indian cohort to define gestation- and weight-adjusted amino acid reference intervals using LC–MS/MS. The data enhance NBS specificity and offer a framework for metabolic risk evaluation in vulnerable neonates.</p>

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Amino Acid Profiling of Term and Preterm Neonates on Dried Blood Spots by Tandem Mass Spectrometry: Findings from the First Expanded Screening Program in Delhi

  • 期刊论文

  • 发表日期：

    2025年11月5日

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  • Ashish Jain,
  • Amit Kumar Gupta,
  • Seema Kapoor,
  • Bisth Surinder,
  • Somesh Kumar,
  • B. K. Thelma

摘要

Neonatal amino acid concentrations are modulated by gestational age and birth weight due to developmental immaturity, altered protein turnover, and metabolic adaptation. Current newborn screening (NBS) programs often ignore these variables, increasing false-positive and false-negative rates. Objective of this study is to establish gestational age- and birth weight-specific reference intervals for amino acids in Indian neonates using LC–MS/MS, with implications for precision in NBS and metabolic assessment. A cross-sectional analysis of 2486 neonates was conducted using dried blood spots collected ≥ 24 h post-birth. Quantification of 11 amino acids was performed using the NeoBase™ non-derivatized kit on a 3200MD QTrap LC–MS/MS system. Neonates were stratified by WHO-defined gestational age and birth weight categories. Reference intervals (2.5th–97.5th percentiles) were derived using ANOVA with Tukey post hoc correction. Preterm and low birth weight neonates demonstrated elevated levels of most amino acids, notably branched-chain and gluconeogenic types, while citrulline remained stable across strata. These findings reflect metabolic immaturity and adaptive catabolism. Reference percentiles specific to gestational and weight categories were generated, improving interpretive accuracy. This is the largest Indian cohort to define gestation- and weight-adjusted amino acid reference intervals using LC–MS/MS. The data enhance NBS specificity and offer a framework for metabolic risk evaluation in vulnerable neonates.