|
Repeat Newborn Screening Result
Normal repeat newborn screening result.
If the first screen showed a markedly elevated carnitine profile,
a normal second screen result is reassuring BUT this does not
rule out CPT I deficiency. Therefore the metabolic physician may
want to continue treating the baby as though he/she has CPT I
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 I 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 I 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 carnitine profile on the second sample is very suspicious
of CPT I deficiency and further evaluation by the metabolic doctor
is definitely required. The baby must be treated as though he/she
has CPT I deficiency while definitive testing is carried out.
See Probable CPT1 deficiency
|
