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<p>Early diagnosis of Congenital Hypothyroidism (CH) is critical to prevent irreversible neurodevelopmental damage. However, current TSH-based newborn screening using Dried Blood Spots (DBS) is limited by factors that lead to false-positive and false-negative results, necessitating the development of alternative methods. Matrix-Assisted Laser Desorption Ionization Time-of-Flight Mass Spectrometry (MALDI-TOF MS) as a high-throughput solution was investigated. This study presents a novel diagnostic approach utilizing DBS peptide barcoding, which was supported by comprehensive LC-MS/MS and network analysis. Peptide profiles showed a marked and reproducible difference between groups. MALDI-TOF MS identified a unique signature, including six dominant peptides specific to the CH-positive group. Subsequent analysis identified 37 candidate peptides, with network analysis linking 12 key proteins to established CH-related agents (e.g., thyroxine, TSHR). The MALDI-TOF MS peptidomic approach is validated as a robust, rapid, and cost-effective alternative for CH screening. This methodology represents a significant advance toward overcoming the limitations of current TSH assays and establishing a clinically translatable biomarker panel for improved personalized diagnosis of CH.</p>

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Rapid peptide analysis in dried bloodspots to identify novel markers for newborn screening for congenital hypothyroidism

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年3月10日

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  • Jaranee Phoungphosop,
  • Teerakul Arpornsuwan,
  • Janthima Jaresitthikunchai,
  • Narumon Phaonakrop,
  • Siriwan Thaisakul,
  • Penpan Thongngao,
  • Piyanan Thiplakorn,
  • Sittiruk Roytrakul,
  • Piamnukul Krasao

摘要

Early diagnosis of Congenital Hypothyroidism (CH) is critical to prevent irreversible neurodevelopmental damage. However, current TSH-based newborn screening using Dried Blood Spots (DBS) is limited by factors that lead to false-positive and false-negative results, necessitating the development of alternative methods. Matrix-Assisted Laser Desorption Ionization Time-of-Flight Mass Spectrometry (MALDI-TOF MS) as a high-throughput solution was investigated. This study presents a novel diagnostic approach utilizing DBS peptide barcoding, which was supported by comprehensive LC-MS/MS and network analysis. Peptide profiles showed a marked and reproducible difference between groups. MALDI-TOF MS identified a unique signature, including six dominant peptides specific to the CH-positive group. Subsequent analysis identified 37 candidate peptides, with network analysis linking 12 key proteins to established CH-related agents (e.g., thyroxine, TSHR). The MALDI-TOF MS peptidomic approach is validated as a robust, rapid, and cost-effective alternative for CH screening. This methodology represents a significant advance toward overcoming the limitations of current TSH assays and establishing a clinically translatable biomarker panel for improved personalized diagnosis of CH.