A Guide to Your Carrier Testing Options

Carrier screening can inform a couple if they are at risk for having a child with certain genetic conditions. There are multiple options available for genetic carrier screening. The current guidelines from the American College of Obstetricians and Gynecologists (ACOG) and the American College of Medical Genetics (ACMG) use the patient’s ethnicity to make recommendations regarding carrier screening. However, more expanded options are becoming increasingly available. This is intended to be a basic overview of your options. Please speak to your healthcare provider or genetic counselor for more information.

A couple identified at increased risk for a genetic condition can consider all of their reproductive options including preimplantation genetic diagnosis (PGD), use of donor egg or donor sperm, prenatal diagnosis, or no further action.

What if you test positive?

In general, both parents must be carriers for the same condition for a pregnancy to be at risk for being affected. Fragile X syndrome is the exception. Only the mother must be a carrier for Fragile X syndrome for the pregnancy to be at risk.

If either you or your partner is found to be a carrier for one of these genetic conditions, the next step would be an appointment with a genetic counselor to discuss the implications of these results and options for further testing.

What if you test negative?

A negative result reduces the likelihood of being a carrier, but does not eliminate the possibility. There are no tests that can detect all genetic changes. Three to five percent of all newborns have some significant physical or mental disability, many of which are undetectable through any known testing.

Basic Carrier Screening*

All ethnicities

All ethnicities can consider carrier screening for cystic fibrosis,

spinal muscular atrophy, and Fragile X syndrome.

African ancestry

Carrier screening is recommended for thalassemia and sickle cell disease.

Southeast Asian or Mediterranean ancestry

Carrier screening is recommended for thalassemia

French Canadian/Cajun/Creole ancestry

Carrier screening is recommended for Tay-Sachs disease.

Jewish ancestry

Carrier screening is recommended for cystic fibrosis, Tay-Sachs disease, Canavan disease, and familial dysautonomia.

*Recommended by ACOG or ACMG

Expanded Carrier Screening

Jewish ancestry only¥

A panel of 18 genetic conditions (including the four recommended by ACOG) seen more frequently in individuals of Eastern European (Ashkenazi) Jewish ancestry.

Broad-based screening, not ethnicity based¥

Screening for carrier status for more than ninety genetic conditions (including the 18 genetic conditions included in the expanded Jewish ancestry panel).  Approximately 1 in 5 people will test positive for at least one condition.

 

¥Ask about separate brochure for more detailed information regarding these options.

Screening for some of the conditions discussed above may need be ordered separately.

 

Disease Chart

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Does insurance cover this testing?

Insurance may cover the costs of these tests, but we recommend that you contact your insurance company to confirm your individual coverage.

For more information

If you would like to schedule an appointment with a reproductive genetic counselor to discuss these options, ask your healthcare provider to refer you to UNC Reproductive Genetics Services. Our schedulers can be reached at 919-843-6094.