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New neonatal screen will pick up 15 more diseases

BMJ 1997; 315 doi: (Published 11 October 1997) Cite this as: BMJ 1997;315:899
  1. Zosia Kmietowicz
  1. London

    A new technique that allows newborn babies to be screened for a battery of metabolic diseases could be introduced in Britain within the next five years. Tandem mass spectrometry could increase the number of diseases for which babies are tested in the first few weeks of life from just two as at present (phenylketonuria and hypothyroidism) to at least 17, so saving thousands of lives and reducing disability.

    Although the introduction of tandem mass spectrometry would entail an initial outlay for machinery, the test would require no extra labour for sample collection-the single dried blood spot currently …

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