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Evidence summaries

Neonatal Screening for Inborn Errors of Metabolism

Neonatal screening for phenylketonuria (in populations where this disease is prevalent) and congenital hypothyreoidism is cost-effective. Level of evidence: "A"

A thorough systematic review 1 including 1156 studies was abstracted in DARE. Of these, 422 studies examined neonatal screening and 246 studies examined treatment. According to the review, existing programmes for phenylketonuria and congenital hypothyroidism have largely achieved their objectives, are cost-effective, and should be continued. Current muscular dystrophy and cystic fibrosis programmes should be continued and monitored for use in developing other programs.

    References

    • Pollitt RJ, Green A, McCabe CJ, Booth A, Cooper NJ, Leonard JV, Nicholl J, Nicholson P, Tunaley JR. Neonatal screening for inborn errors of metabolism: cost, yield and outcome. Health Techn Assess 1997;1:1-203. [DARE]

Primary/Secondary Keywords