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Normal Repeat Newborn Screen Result

If the first screen showed a markedly elevated level of C3 a normal second screen result is reassuring BUT does not rule out PA or MMA. Therefore, the metabolic physician may want to continue treating the baby as though he/she has PA or MMA while awaiting the results of more definitive tests.

Once the metabolic team has confirmed that the infant does not have PA or MMA, 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 that this does not mean that the baby has PA or MMA but only that the metabolic doctor is taking a cautious approach until definitive results are available to keep the baby safe and well.

Abnormal repeat newborn screen result.

An elevated C3 on the second sample is very suspicious of PA or MMA and further evaluation by the metabolic doctor is definitely required. The baby must be treated as though he/she has PA or MMA while definitive testing is carried out. See C3 markedly elevated, probable PA or MMA discussions in first newborn screening result section.

 

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