Issues in Newborn Screening

Abstract

In 1982 the American Academy of Pediatrics published recommendations on newborn screening for phenylketonuria (PKU) and congenital hypothyroidism (CH),¹ and these were updated and expanded for CH in 1987.² This current statement reemphasizes the important points from those statements and considers further recommendations that relate to issues in clinical practice.

Newborn screening is a preventive public health procedure that should be available to all neonates. There are approximately 4 000 000 births per year in the United States and approximately 370 000 per year in Canada. Because the numbers to be screened are so large, even if a relatively small percentage of babies are excluded, a significant number of individuals will be missed. For example, if 5% of the neonatal population in Canada and the US were not screened during a 1-year period, there would be 14 or more children with undetected PKU (13 in the US and 1 in Canada) and 43 or more with undetected CH (40 in the US and 3 in Canada).

To maximize the screening rate, the American Academy of Pediatrics (AAP) continues to recommend hat all infants have a blood specimen taken for newborn screening prior to discharge from the nursery.¹ The practitioner should be aware of the influence of treatments, such as transfusions and dialysis (see below), on the screening tests. The importance of accurate and complete information on the specimen collection form, and of appropriate sample collection technique, should be recognized.³ In addtion, pediatricians should be aware of those groups of infants who are at risk of not being screened and should obtain a specimen from those infants at their first contact with them.