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Repeat Newborn Screening Result
Normal repeat newborn screening result.
If the first screen showed a markedly elevated level of 3-OH-C16,
-C18:1 & -C18:2 a normal second screen result is reassuring BUT
this does not rule out LCHADD. Therefore the metabolic physician
may want to continue treating the baby as though he/she has LCHADD
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 LCHADD, 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 LCHADD 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 3-OH-C16, -C18:1 & -C18:2 on the second sample is
very suspicious of LCHADD and further evaluation by the metabolic
doctor is definitely required. The baby must be treated as though
he/she has LCHADD while definitive testing is carried out. See
3-OH-C16, -C18:1 & -C18:2 markedly elevated,
probable LCHADD discussions in first newborn screening result
section.
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