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Most individuals carry alterations in genes, and children are born with inherited conditions, even when these conditions don’t run in their family. This occurs because each parent without the disease carries only one abnormal copy of a gene for the same inherited condition, and their child inherits both abnormal copies of a gene from each parent. This is called recessive inheritance. If both parents are carriers, there is a 25% chance (1 in 4) they will have a child with a recessive condition.
Carrier screening refers to a genetic test used to determine whether an otherwise healthy person might be a carrier of a genetic disease. It provides individuals with actionable knowledge used to consider their range of reproductive options. Ultimately, the goal of genetic screening is to provide individuals with meaningful information that they can use to guide family planning based on their personal values.
There are many effective strategies for carrier screening, including targeted screening for specific conditions (based on ethnicity and family history) and expanded screening to detect multiple conditions simultaneously.
Early screening—even for seemingly healthy individuals—offers many advantages. Carrier screening can help a couple determine if they are carriers of the same recessive disease trait and are at risk for having children with that recessive condition. If both parents are determined to be carriers of mutations for the same disease, several options are available: