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Repeat Newborn Screen Result
This may
• Test normal, refutes the diagnosis of PKU
• Test positive for PKU, supporting the diagnosis of PKU
Test Positive for PKU
The infant must be evaluated and, if necessary, treated in conjunction
with a metabolic team that should include at the least a metabolic
physician and a specialist metabolic dietician. The evaluation
will include confirmatory testing to determine the degree of PKU
and additionally to determine whether the increased phenylalanine
level might be secondary to a pterin defect.
contact metabolic physician 
Test normal,
If the original result was strongly positive and repeat testing
comes back normal, it will be important to confirm the normality
in the repeat test with another specimen from the baby, since
it is unusual for a strongly positive test to be transient. If
the original result was mild or only borderline, however, a normal
repeat test may be considered as valid. It is essential to inform
the family as soon as possible if the result is normal. Many families
are only informed of results indicating disease and remain anxious
and believing their child is affected unless SPECIFICALLY informed
otherwise as soon as the test result so indicates. In some cases
there remain stresses related to the false positive test, even
after being informed of a normal result, and counseling may be
appropriate. If the screen truly was a false positive then it
is essential to ensure that the family understand that their child
does not, and never did, have PKU or a variant and that
the positive test result reflected issues connected with the testing
process and not their entirely healthy baby.
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