【摘 要】
：
Population screening of newborns for congenital disorders commenced in the 1960s with testing for the metabolic disorder, phenylketonuria.Many disorders now
【机 构】
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NSW Newborn Screening Programme The Childrens' Hospital at Westmead Australia
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Population screening of newborns for congenital disorders commenced in the 1960s with testing for the metabolic disorder, phenylketonuria.Many disorders now satisfy the criteria developed by Wilson and Junger for inclusion in a screening program.Briefly, there should be: a benefit from early diagnosis which is balanced against financial and other costs; a reliable test suitable for screening; and a system in place to provide diagnostic testing, counselling,treatment and follow-up of patients identified by screening.
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