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A Introduction: Expansion of Screening?

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Chapter Summary

At present, electrospray ionisation tandem mass spectrometry (MSMS) newborn screening (NBS) is used almost exclusively for the detection of selected disorders of amino acid and organic acid metabolism, and fatty acid oxidation defects. This part describes what is meant by newborn susceptibility testing and then briefly discusses some of the practical or scientific issues that need to be addressed. It then advocates that research be recognized as an integral component of any newborn screening programme and that the infrastructure required within the programme to support such research be promoted as a provision of public health responsibility. The part also describes the different aspects and problems of carrier identification in neonatal screening programmes based on the experience of the French programme. It explores issues of detection and disclosure of carrier status in sickle cell anemia (SCA) and cystic fibrosis (CF) as a routine component of NBS in the United States (US).

Keywords: carrier identification; cystic fibrosis (CF); newborn screening (NBS); newborn susceptibility testing; public health responsibility; sickle cell anemia (SCA)



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