Genetic Screening

Who should have carrier screening?

All women who are thinking about becoming pregnant or who are already pregnant are offered carrier screening for cystic fibrosis, hemoglobinopathies, and spinal muscular atrophy. You can have screening for additional disorders as well. There are two approaches to carrier screening for additional disorders: 1) targeted screening and 2) expanded carrier screening.

What is carrier screening?

Carrier screening is a type of genetic test that can tell you whether you carry a gene for certain genetic disorders. When it is done before or during pregnancy, it allows you to find out the chances of having a child with a genetic disorder.

What is a carrier?

For some genetic disorders, it takes two genes for a person to have the disorder. A carrier is a person who has only one gene for a disorder. Carriers usually do not have symptoms or have only mild symptoms. Because they often do not know that they have a gene for a disorder, they can pass the gene on to their children.

What are the chances of having a child with a genetic disorder?

If both parents are carriers of a recessive gene for a disorder, there is a 25% (1-in-4) chance that their children will get the gene from each parent and will have the disorder. There is a 50% (1-in-2) chance that the children will be carriers of the disorder—just like the carrier parents. If only one parent is a carrier, there is a 50% (1-in-2) chance that the child will be a carrier of the disorder.

What carrier screening tests are available?

Carrier screening is available for a limited number of diseases, including cystic fibrosis, fragile X syndrome, sickle cell disease, and Tay–Sachs disease. Some of these disorders occur more often in certain races or ethnic groups. For example, sickle cell disease occurs most frequently in African Americans. Tay–Sachs disease is most common in people of Eastern or Central European Jewish, French Canadian, and Cajun descent. But anyone can have one of these disorders. They are not restricted to these groups.

What is targeted carrier screening?

In targeted carrier screening, you are tested for disorders based on your ethnicity or family history. If you belong to an ethnic group or race that has a high rate of carriers for a specific genetic disorder, carrier screening for these disorders may be recommended. This also is called ethnic-based carrier screening. If you have a family history of a specific disorder, screening for that disorder may be recommended, regardless of your race or ethnicity.

What is expanded carrier screening?

In expanded carrier screening, many disorders are screened for using a single sample. This type of screening is done without regard to race or ethnicity. Companies that offer expanded carrier screening create their own lists of disorders that they test for. This list is called a screening panel. Some panels test for more than 100 different disorders. Screening panels usually focus on severe disorders that affect a person’s quality of life from an early age.

Is one approach better than the other?

Before testing, you and your obstetrician–gynecologist (ob-gyn) or other health care professional can discuss the benefits and limitations of each carrier screening approach and choose the one that is right for you. In some cases, both approaches can be used to tailor screening to your individual situation.

What choices do I have if my partner and I are carriers of a genetic disorder?

If you have carrier screening before you become pregnant, you have several options. You may become pregnant and have prenatal diagnostic tests to see if the fetus has the disorder. You may choose to use in vitro fertilization with donor eggs or sperm to become pregnant. With this option, the fertilized egg can be tested before it is transferred to the uterus. You also may choose not to become pregnant. If you have carrier screening while you are already pregnant, your options are more limited. In either case, a genetic counselor, your ob-gyn, or other health care professional can explain your risks of having a child with the disorder.

For your convenience, we are happy to perform, in either of our offices, the blood draw required to collect both your and your partner’s (if applicable) samples. We will also ship your sample, via pre-paid FedEx label, directly to the appropriate laboratory for processing. 

When can carrier screening be done?

Some people decide to have carrier screening before having children. Carrier screening also can be done during pregnancy. Getting tested before pregnancy gives you a greater range of options and more time to make decisions.

Do I have to have carrier screening?

Carrier screening is a voluntary decision. You can choose to have carrier screening, or you can choose not to. There is no right or wrong choice.

Why should I have Carrier Screen Performed?

If you have carrier screening before you become pregnant, you have several options. You may become pregnant and have prenatal diagnostic tests to see if the fetus has the disorder. You may choose to use in vitro fertilization with donor eggs or sperm to become pregnant. With this option, the fertilized egg can be tested before it is transferred to the uterus. You also may choose not to become pregnant. If you have carrier screening while you are already pregnant, your options are more limited. In either case, a genetic counselor, your ob-gyn, or other health care professional can explain your risks of having a child with the disorder.

How accurate is carrier screening?

No test is perfect. In a small number of cases, test results can be wrong. A negative test result when you have a gene for the disorder tested is called a false-negative result. A positive test result when you do not have a gene for a disorder is called a false-positive result. Also, because carrier screening looks for only a limited number of genes, it is possible that you are a carrier of a genetic disorder even if your test results are negative.

Are results of carrier screening confidential?

The Genetic Information Nondiscrimination Act (GINA) makes it illegal for most health insurers to require genetic testing results or use results to make decisions about coverage, rates, or preexisting conditions. Most employers are prohibited from using genetic information for hiring, firing, or making any other decisions about a person’s employment.

If you find out that you are a carrier of a gene for a genetic disorder, you may want to tell other family members. They may be at risk of being carriers themselves. There is no law that states that you have to do so. If you choose to tell family members, your ob-gyn or genetic counselor can advise you about the best way to do this. It cannot be done without your consent.

Fertilome

Check your DNA for markers in genes that are associated with reproductive health conditions.

Invitae

Before pregnancy, carrier screening can be a critical step in planning for the future.

SEMA4

Understand your risk of passing a genetic condition onto your child.

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