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Biological Reference Values for Newborn Screening Parameters in Accordance to Gestational Age and Birth Weight- A

Suprava Patel1, Neharani Verma1, Seema Shah1

  • 1Department of Biochemistry, All India Institute of Medical Sciences, Raipur, Chhattisgarh, India.

EJIFCC
|December 29, 2025
PubMed

Insights

This study establishes crucial reference values for newborn screening (NBS) parameters, differentiating between preterm (PT) and term-born infants, and low-birth weight (LBW) and normal-birth weight (NBW) newborns. These findings aid in accurate diagnosis and improved health outcomes for diverse infant populations.

Area of Science:

  • Neonatal Medicine
  • Biomarker Discovery
  • Metabolic Disorders

Background:

  • Metabolic differences exist between preterm (PT) and term-born (NBW) newborns.
  • Accurate diagnostic biomarkers are essential for timely disorder detection and improved health outcomes.
  • Establishing group-specific reference values considering gestational age and birth weight is critical.

Purpose of the Study:

  • To compare newborn screening (NBS) parameters across different gestational age and birth weight groups.
  • To establish dedicated reference values for NBS parameters in term-normal birth weight (TERMNBW), term-low birth weight (TERMLBW), preterm-normal birth weight (PTNBW), and preterm-low birth weight (PTLBW) newborns.
  • To identify sex-based differences in NBS marker levels.

Main Methods:

  • A prospective study involving 2860 newborns undergoing NBS in dried-blood spot samples within five days of birth.
  • Categorization of newborns into four groups: TERMNBW, TERMLBW, PTNBW, and PTLBW.
  • Analysis of central tendency measures and comparison of NBS parameters across study groups.

Main Results:

  • Sex-based differences observed: higher n17-OHP in males; higher nIRT and nMSUD in females.
  • nTSH levels were higher in TERMNBW compared to PTLBW.
  • n17-OHP levels were lower in TERMNBW and TERMLBW compared to PTNBW and PTLBW.
  • Highest nBIOT and nG6PD ranges were found in TERMNBW.
  • Established reference values for nTSH, n17-OHP, nIRT, nG6PD, and nBIOT for TERMNBW and PTLBW groups.
  • Similar reference values noted for nPKU, nGAL, and nMSUD across groups.

Conclusions:

  • The study provides a comprehensive comparison of NBS parameters across distinct newborn subgroups.
  • Detailed reference levels are established, accounting for gestational age and birth weight.
  • These findings support the development of tailored diagnostic criteria for diverse neonatal populations.
Abstract

Keywords:
Central Indiafemale newbornslow birth weightmale newbornsnormal birth weightpretermterm

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