What is genetic-carrier screening?

Genetic-carrier screening involves testing the blood or saliva of prospective parents to see if they are carriers of certain genes. This type of screening is used to check for diseases that can be passed on through genes from either parent or both parents. The screening can be performed before conception or early in pregnancy to determine the chance that a child might be affected with certain diseases that either run in her or his family or are more common among people of the family's ethnic background than they are among the general population.

Some conditions are more common in certain populations. For example, Caucasians whose families came from Northern Europe are more likely to have cystic fibrosis; African-Americans are more likely to have sickle-cell disease. Genetic-carrier screening can test for these conditions and others that occur at higher rates in certain groups.

If you and your partner are both found to be carriers for such a genetic condition, a fetus would have a one-in-four chance of being affected; diagnostic prenatal testing can be done to determine whether or not the fetus has the condition. Some rarer genetic conditions, such as hemophilia, fragile X syndrome, and Duchene muscular dystrophy, are passed to children in a slightly different way, known as X-linked inheritance. These conditions are more likely to affect boys than girls.

* Genetic-carrier screening can test for these conditions as well. If you have a family member who has a genetic condition, tell your doctor, midwife, or genetic counselor if you are interested in getting testing for that condition. In some cases, there may be prenatal genetic testing available that can help you determine if your fetus is affected.

Genetic-carrier screening is routinely offered for cystic fibrosis, sickle-cell disease, and Tay-Sachs disease at an early prenatal visit, depending on your racial and ethnic background.

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