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New screening method for newborns can prevent complications

BMJ 2003; 327 doi: (Published 27 November 2003) Cite this as: BMJ 2003;327:1250
  1. Deborah Josefson
  1. Richmond, Virginia

    A new method of screening newborn infants for rare hereditary disorders can prevent complications in neonates affected by some of these diseases and reduce parental stress, but it can also produce false positive results and may not be worth the cost.

    The new technology, tandem mass spectrometry, can identify over 20 metabolic disorders in a single drop of blood and is mandatory in 24 US states. Four more states are set to use it soon. Screening for phenylketonuria and hypothyroidism is mandatory in all states.

    To examine the impact of tandem mass spectrometry on neonatal genetic screening, Dr Susan Waisbren and colleagues from Harvard University's Children's Hospital in Boston, Massachusetts, conducted a prospective cohort study of children identified with the new screening technology compared with children …

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