Should Parental Refusals of Newborn Screening Be Respected?

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For over four decades, knowledge that symptoms of some inherited diseases can be prevented or reduced via early detection and treatment in newborns has underpinned state-funded screening programs in most developed countries. Conditions for which newborn screening is now a recognized preventative public health initiative include phenylketonuria (PKU), congenital hypothyroidism (CHT), and, more recently, cystic fibrosis (CF) and sickle cell disorder (SCD). The use of tandem mass spectrometry to detect conditions such as amino-acidopathies and fatty-acid oxidation defects is also becoming increasingly prevalent.The author thanks Dr. David Aitken, Dr. Richard Ashcroft, Professor Carol Dezateux, Dr. Katrina Hargreaves, Dr. Sandy Oliver, Dr. Rosalind Skinner, Ruth Stewart, and two anonymous referees for their valuable comments in drafting this paper.