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Some reasons for referrals may include: confirmation of a diagnosis, carrier testing, genetic counseling, or prenatal diagnosis in at risk pregnancies. If you have a child with propionic acidemia, the risk of each additional pregnancy is 1:4 that the baby will have propionic acidemia. It is easier to detect PA in utero, when you know the mutation. You can also check siblings and other relatives to see if they are carrying a defective gene.
You can visit Genetics Home Reference for a glossary of unfamiliar terms:
Genetics Home Reference Glossary
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