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Ethical Issues Surrounding Newborn Screening
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DOI：10.3390/ijns7010003.png)
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摘要
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It would be difficult to overestimate the importance of persistent, thoughtful parents and their importance in the development of treatments for their children's rare disorders. Almost a century ago in Norway, observant parents led a brilliant young physician-scientist to his discovery of the underlying cause of their children's profound developmental delay-i.e., phenylketonuria, or PKU. Decades later, in a recovering war-ravaged Britain, an equally persistent mother pressed the scientists at Birmingham Children's Hospital to find a way to treat her seriously damaged daughter, Sheila, who suffered from PKU. Living on the financial edge, this mother insisted that Bickel and colleagues develop such a diet, and she volunteered Sheila to be the patient in the trial. The scientists concluded that the low phenylalanine diet helped but needed to be started very early-so, newborn screening was born to permit the implementation of this. Many steps brought us to where we are today, but these courageous parents made it all begin.
Keyword:
parental advocacy history
residual dried blood spots
newborn screening expansion
recommended uniform screening panel (RUSP)
secretary's advisory committee of heritable disorders in newborns and children (ACHDNC)
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