These recommendations were adapted from a report prepared for the U.S. Preventive Services Task Force. Recommendations were not based on cost-effectiveness of options. Patient preferences were not discussed. Background papers providing critical appraisal of the evidence and tentative recommendations prepared by the chapter author were pre-circulated to the members. Consensus was reached on final recommendations.
Flurometric assays have excellent sensitivity and lower false negative rates.
The gene probe has not been fully tested. Routine screening of pregnant women has very low yields. Untreated PKU causes mental retardation. Some psychological deficits including perceptual motor dysfunction and attention and academic difficulties have been found. Low phenylalanine diets during pregnancy may lead to poor fetal growth.