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Neonatal Screening: Old Dogma or Sound Principle?: In Reply

2007; American Academy of Pediatrics; Volume: 119; Issue: 2 Linguagem: Inglês

10.1542/peds.2006-3178

1098-4275

Duane Alexander, Peter C. van Dyck,

Ethics and Legal Issues in Pediatric Healthcare

The comments by Dr Wald regarding our urging reexamination of the dogma that newborn screening should be offered only for conditions for which effective preventive or curative treatment exists set forth precisely the arguments that we believe should be challenged. The comments need to be considered seriously because of Dr Wald's eminence in the field of health screening and because they represent well the arguments on which policies have been based for nearly 50 years. The problem is that his comments indicate a failure to recognize the knowledge gained from this half-century of experience with newborn screening and the desires of parents for help with conditions other than the very few for which such effective treatment is available. It is the parents who prefer to have a diagnosis early, even for a serious nontreatable disorder, so that they can avoid the long diagnostic odyssey of trying to find an explanation once symptoms begin. It is the parents who want to be able to apply appropriate palliative or ancillary care early rather than late and to have the opportunity to consider enrolling their child in a trial of an experimental therapy before irreversible damage has occurred from disease progression. They are the ones who would like to have information early for family-planning purposes rather than after the birth of a second affected child. They also value having this information early because it allows them to make informed decisions about matters that others may overlook (eg, the parents would not have bought a 3-story house when their child was 2 years old if they had known at birth that the child had muscular dystrophy that would not become apparent until the age of 3).Beyond curative treatment there are medical and nonmedical benefits for the child and the family that are provided only from diagnosis of many genetic disorders in the newborn period rather then when the symptoms start to become manifest. We urge Dr Wald to talk to parents who have affected children, as we have done, about whether they would have preferred to know even a devastating diagnosis in the newborn period rather than months or years later when symptoms developed. Our experience has shown an almost unanimous preference of parents for knowing the diagnosis in the newborn period. We believe that, as the number of conditions for which newborn screening is possible expands, parents should be offered the opportunity to make an informed choice about whether to have their newborn infant screened for conditions that lack definitive therapy; denying them this opportunity can be harmful to the child and the family. To persist with present policies and deny the opportunity for broader screening, as Dr Wald advocates, is to ignore the knowledge gained from newborn screening programs and the role of parents in medical decision-making for their families.