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Updated: Jun 12, 2026

Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale
19:15

Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale

Published on: August 25, 2014

Newborn screening.

James J Pitt1

  • 1VCGS Pathology, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Vic. 3052, Australia.

The Clinical Biochemist. Reviews
|May 26, 2010
PubMed
Summary
This summary is machine-generated.

Newborn screening (NBS) enables early detection of inherited disorders like phenylketonuria, hypothyroidism, and cystic fibrosis (CF) using dried blood spots. Advances in tandem mass spectrometry allow multiplex testing for numerous conditions, prompting guideline re-evaluation.

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Area of Science:

  • Biochemistry
  • Genetics
  • Public Health

Background:

  • Newborn screening (NBS) programs are crucial for early detection of inherited disorders.
  • Phenylketonuria (PKU) was the first disorder included in NBS, demonstrating the benefits of early dietary intervention.
  • Subsequent additions to NBS include primary hypothyroidism and cystic fibrosis (CF), utilizing immunoassays and molecular diagnostics.

Purpose of the Study:

  • To review current newborn screening (NBS) practices in Australasia.
  • To discuss the evolution of NBS testing strategies, from single-disorder to multiplex analysis.
  • To examine the implications of expanding NBS to include a wider range of disorders, including rare conditions.

Main Methods:

  • Review of established NBS protocols and diagnostic technologies in Australasia.

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  • Analysis of the integration of tandem mass spectrometry for multiplex testing of inborn errors of metabolism.
  • Examination of current guidelines and their re-evaluation in light of expanded NBS capabilities.

    • Main Results:

    • NBS programs have successfully incorporated testing for PKU, hypothyroidism, and CF.
    • Multiplex testing using tandem mass spectrometry now allows simultaneous screening for approximately 25 inborn errors of metabolism.
    • The expansion of NBS has led to discussions regarding the inclusion of very rare disorders or those with limited treatment options.

    Conclusions:

    • Early detection through NBS significantly improves outcomes for various inherited disorders.
    • Technological advancements, such as tandem mass spectrometry, have expanded the scope of NBS.
    • Ongoing evaluation of NBS guidelines is necessary to optimize the inclusion and management of screened disorders.