A normal carrier screen on one or both parents does not mean that a baby cannot be affected by a genetic condition. This is because of several reasons. The first is that a genetic carrier screen on a person does NOT rule out being a carrier for all genetic conditions because it can’t test for a genetic conditions, it only tests for a limited set of genes. The second is that you could still be a carrier for a condition on the panel because the carrier screening test cannot find all gene changes or "mispellings" that cause the disease, it just rules out the most common changes. The third is that some genetic conditions are caused by only one gene being misspelled or changed. In these genetic conditions, a change in the parent may cause very mild health problems, but could cause more severe health problems in the baby. The fourth reason is that a misspelling in the gene could occur in the baby for the first time in the family.
A genetic counselor has the knowledge to help you learn more about the different types of carrier testing, discuss your personal results, and any impact on your current and future children. Find a genetic counselor in your area using the NSGC find a genetic counselor webpage.
Other Questions About My carrier screen came back normal. Does this mean my baby is not at risk for any genetic condition?
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