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High Content Screening in Neurodegenerative Diseases
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Development of Strategies to Decrease False Positive Results in Newborn Screening.

Sabrina Malvagia1, Giulia Forni1, Daniela Ombrone1

  • 1Newborn Screening, Biochemistry and Pharmacology Laboratory, Pediatric Neurology, Unit and Laboratories, Meyer Children's University Hospital, 50139 Florence, Italy.

International Journal of Neonatal Screening
|November 5, 2020
PubMed
Summary

Expanded newborn screening (NBS) improves infant health but increases false positives. Strategies like advanced analytical methods and biomarkers can enhance NBS accuracy, reducing unnecessary testing and parental anxiety.

Keywords:
false positivesinborn error of metabolismnewborn screeningsecond-tier testtandem mass spectrometry

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Area of Science:

  • Medical Genetics
  • Public Health
  • Biochemistry

Background:

  • National newborn screening (NBS) programs have expanded, enabling early diagnosis and treatment of rare heritable conditions.
  • Technological advancements allow screening for over 50 disorders, but increase false positive rates.
  • High false positive rates in NBS lead to unnecessary, costly, and invasive follow-up testing for healthy infants.

Purpose of the Study:

  • To review strategies for mitigating adverse effects of false positives in expanded newborn screening.
  • To discuss methods for improving the performance and accuracy of NBS programs.
  • To address the challenge of false positives in NBS systems for healthcare providers.

Main Methods:

  • Overview of commonly used strategies to decrease adverse effects from inconclusive NBS results.
  • Focus on analytical method implementation for NBS performance improvement.
  • Application of novel, informative biomarkers and post-analytical interpretive tools.

Main Results:

  • Implemented strategies aim to enhance the positive predictive value of NBS tests.
  • These approaches can reduce parental anxiety associated with false positive results.
  • Strategies are expected to lower healthcare costs linked to unnecessary NBS follow-up procedures.

Conclusions:

  • Improving NBS accuracy is crucial for balancing benefits and harms of expanded screening.
  • Advanced analytical methods, biomarkers, and interpretive tools are key to reducing false positives.
  • Optimized NBS processes can minimize unnecessary testing, anxiety, and healthcare expenditure.