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Repeat Newborn Screen Result
Normal repeat newborn screening result.
If the first screen showed a markedly elevated level of galactose,
a normal second screen result is reassuring BUT this does not
rule out galactosemia. Therefore the metabolic physician may want
to continue treating the baby as though he/she has galactosemia
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 galactosemia, 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 made anxious 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 galactosemia
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.
A markedly elevated galactose on the second sample is very suspicious
of galactosemia and further evaluation by the metabolic doctor
is definitely required. The baby must be treated as though he/she
has galactosemia while definitive testing is carried out. See
GAL markedly elevated, probable
galactosemia discussions in first newborn screening result
section.
** It is important to note that elevated galactose can be
an indicator of non-metabolic disease such as porta-systemic shunting
or congenital biliary atresia. **
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