Carrier Screening Tests

Is Testing Right for Me?

Carrier Screening Tests

What Is Carrier Screening?

Our genes come in pairs: we inherit one of each pair from our mother, and one from our father. In many cases, we can have a mutation in one gene with no bad effects because having a second, working gene is enough to protect us. This is called being a "carrier" of a gene mutation. As a result, these gene mutations can be passed down in families for many generations without anyone knowing.

People who are pregnant or planning pregnancy are often offered carrier screening based on their ancestry (or "ethnic background") or family history.

The goal of carrier screening is to identify couples who have a higher chance to have a child with certain genetic condition. This information can be used for family planning and prenatal diagnosis.

Carrier screening may be useful if:

  • you are pregnant or planning a pregnancy
  • someone in your family has a recessive genetic condition
  • your partner is a carrier for a genetic condition
The best time to have carrier screening is before you become pregnant. Testing before pregnancy gives couples more time to learn about any condition they may carry and to explore family planning options.

When carrier testing is done during pregnancy, couples may feel time pressure to have both parents tested, and to make important decisions if both parents are carriers.

Common Carrier Screening Tests

Next: What Is a "Carrier"?