The incidence of maternal PKU is increasing with the growing number of healthy phenylketonuric females now entering childbearing age. If the mother does not follow a restricted phenylalanine diet during pregnancy, there is an overwhelming risk of birth of an abnormal child. Many believe dietary restrictions must be instituted prior to conception to be effective. A major study examining the health effects of such diets during pregnancy is currently under way. While there are no federal guidelines for metabolic programs, every Canadian province and U.S. state has mandated routine screening services for all newborns.
All Canadian provinces have universal screening programs.
Premature infants and those being treated for illness should be tested on or near the seventh day. The AAP recommends that infants who are tested before 24 hours of age receive a repeat screening test at 1 to 2 weeks of age. The AAP also recommends that if appropriate screening results cannot be documented for a patient transferring into a practice, the physician should obtain a specimen for screening, even if the patient is beyond the neonatal period. We recommend earlier re-screening than the U.S. Task Force because it is felt that the earlier a diagnosis is established and therapy is begun, the better the outcome. Premature infants and those with illnesses should be tested at or near 7 days of age.