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November 13, 2025International Journal of Neonatal ScreeningOpen Access

Multiplexable, High-Throughput DNA-Based Technologies in Screening and Confirmatory Testing of Newborn Conditions: A Scoping Review

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Authors

TFTerence Diane FabellaJHJoery den HoedLHLidewij Henneman

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Overview

Scoping review demonstrates high-throughput DNA technologies improve screening for newborn conditions, suggesting further integration into programs.

Key Points

  • This review identifies DNA-based technologies for newborn screening and confirmatory testing.
  • Scoping review of literature from Medline, Embase, and Web of Science up to April 2024.
  • Included 26 journal articles focusing on DNA technologies for newborn disorders.
  • Extracted data concerning the appropriateness and technical aspects of identified technologies.
  • Five main technologies identified: whole-genome sequencing, whole-exome sequencing, targeted gene sequencing, quantitative polymerase chain reaction, and MassARRAY.
  • Targeted gene sequencing was the most common, used in 73.08% of cases.
  • A combined testing approach using next-generation sequencing and biochemical tests is suggested as optimal.

Cite This Study

Fabella et al. (2025) studied this question.

synapsesocial.com/papers/692523bbc0ce034ddc354a6ahttps://doi.org/10.3390/ijns11040104
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Analytical Validation of a Genomic Newborn Screening Workflow2025
  2. 2Integrating the Genomic Revolution into Newborn Screening: Current Challenges and Future Perspectives2026 · 4 citations
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  4. 4Genomic sequencing for newborn screening: current perspectives and challenges2024 · 13 citations
  5. 5Editorial: Newborn screening for inborn errors of metabolism volume II2026