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Repeat Newborn Screen Result
Normal repeat newborn screening result.
If the first screen showed a markedly elevated level of C16 &
C18:1 a normal second screen result is reassuring BUT this does
not rule out CPT II deficiency. Therefore the metabolic physician
may want to continue treating the baby as though he/she has CPT
II deficiency while awaiting the results of more definitive tests.
If the first screen was only mildly elevated however, the newborn
screening increase was probably transient (false positive).
Once the metabolic team has confirmed that the infant does not
have CPT II deficiency, it is essential to reassure the family
that their baby is well and that they should treat their baby
as entirely normal. Many people can be traumatized by a false
positive result and counseling may be appropriate. If the metabolic
physician remains concerned, however, then he/she will discuss
this further with you and may decide to continue with frequent
feeds and early intervention if the baby becomes sick. It is important
to remember, however, that this does not mean that the baby has
CPT II deficiency but only that the metabolic doctor is taking
an extra cautious approach until definitive results are available
to keep the baby safe and well.
Abnormal repeat newborn screen result.
An elevated C16 & C18:1 on the second sample is very suspicious
of CPT II deficiency and further evaluation by the metabolic doctor
is definitely required. The baby must be treated as though he/she
has CPT II deficiency while definitive testing is carried out.
See C16 & C18:1 markedly elevated,
probable CPT II deficiency discussions in first newborn
screening result section. 
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