PEDIATRICS Vol. 72 No. 3 September 1983, pp. 390-398
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Newborn Screening for Phenylketonuria: Predictive Validity as a Function of Age

Edward R. B. McCabe MD, PhD1, Linda McCabe PhD1, Gayle A. Mosher MS1, Richard J. Allen MD1, and Julian L. Berman MD1

1 From the Departments of Pediatrics, Biochemistry, Biophysics, and Genetics, University of Colorado School of Medicine; Department of Psychology, University of Colorado at Denver; Departments of Pediatrics and Neurology, University of Michigan Medical School, Ann Arbor; and Department of Pediatrics, University of Health Sciences, The Chicago Medical School, North Chicago

Data from questionnaires were assembled for 109 infants with phenylketonuria (PKU) and 114 control infants to assess the predictive validity of newborn screening for PKU as a function of age. Patients with PKU had values of <4 mg/dL in cord blood and in samples from days 1, 2, and 4 through 7. The proportion of patients with PKU expected to fall below screening cutoffs of 2, 4, and 6 mg/dL was predicted for each age range. Using a cutoff of 4 mg/dL, approximately one third of patients with PKU would be missed by a sample taken from the neonate in the first 12 hours of life, and nearly 10% would be missed with a sample from the second 12 hours of life. This study shows that not all patients with PKU will be detected by newborn screening, and that the phenomenon of early nursery discharges must be considered in developing appropriate screening strategies.

Key Words: phenylketonuria • newborn screening

Submitted on June 21, 1982
Accepted on December 10, 1982




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