Genetic Carrier Screening

Preconception and During Pregnancy

What is Genetic Carrier Screening?

Genetic carrier screening is testing that is done to determine whether you or your partner carry a gene mutation that could cause a disorder in your baby.

You can have carrier screening before becoming pregnant or during your pregnancy.

Ideally, having carrier screening before becoming pregnant allows you more time to consider your options and make decisions.

Early Screening Offers Many Advantages

For some diseases, knowing your baby is affected before birth makes it more likely that your baby can be helped by early treatment.

It allows your doctor to line up the right medical specialists, who can be on hand to start treating your baby right after delivery.

We invite you to login to the Carrier Screening App for more detailed information regarding carrier disorders which are screened for and your options.

Patient Login

More information is also provided below.

What is a Carrier?

A carrier is a person who has a disease trait, but does not have any physical symptoms of the disease.

In a person who is a carrier, the recessive gene mutation gets outweighed by the dominant gene so while a carrier does not develop the disease, a carrier can pass on the gene with a mutation to his or her child.

Because these disorders are recessive, this means that both you and your partner must have the same gene mutation in order for your children to inherit a given recessive disorder.

If both you and your partner are carriers of the same gene mutation, then your child will have a 25% chance of inheriting one affected gene from each of you and being born with the disease.

This risk remains the same for each pregnancy.

Who Should Have Carrier Screening?

DNA tests are available to help a couple decide if they are carriers for the same recessive disease and if they are at risk for having a baby with that recessive condition.

You are at increased risk if:

  • You have a genetic disorder.
  • You have a child who has a genetic disorder.
  • Your family has a history of a genetic disorder.
  • You are of ethnicity that has a high risk of certain carrier disorders.

Some Diseases Occur More Often in Certain Ethnic Groups

Here are the primary disorders related to ethnicity:

African, Asian, Mediterranean heritage: Thalassemia, Sickle Cell Anemia, and Cystic Fibrosis.

Ashkenazi Jewish heritage: Tay-Sachs, Canavan, Cystic Fibrosis, Familial Dysautonomia and other disorders.

European Caucasian and Hispanic heritage: Cystic Fibrosis.

French Canadian heritage: Tay-Sachs, and Cystic Fibrosis.

There are other disorders not listed here which can be screened for.  Your doctor or healthcare provider will be able to provide you with more information.

How is Genetic Carrier Screening Done?

If you choose to be screened, you’ll be asked to give a blood or saliva sample.

If you’re found to be a carrier, your partner will be screened as well.

Your doctor may also screen you and your partner at the same time.

What Do The Results Tell You?

If only one parent is a carrier, then the child has a 25% of being a carrier for that disorder and a 0% chance of having the disease.

If both parents are carriers, then the child:

  • Has a 25% chance of receiving the abnormal gene from each parent and of having the disease.
  • Has a 50% chance of being a carrier just like the parent who is a carrier.
  • Has a 25% chance of not being a carrier and not having the disorder.

What Are Your Options If You Find Out You Are Carriers?

If you find out that both you and your partner are carriers, you have several options:

You may choose to become pregnant and have prenatal diagnostic testing to confirm whether or not your developing baby has the disorder.

You may decide to try in vitro fertilization with donor eggs or sperm.   Special testing of the embryo known as preimplantation genetic diagnosis can be performed before it is implanted.

Some couples decide to adopt a child instead or not to have children at all.

Carrier Screening Application

We invite you to login to the Carrier Screening application where you will find more detailed information of genetic carrier screening.

Patient Login

The link below provides information on some of the more common genetic conditions that carrier screening tests for.

Thank You and Best Wishes!

Patient Advocacy

Please see the hyperlinks below for a list of Patient Advocacy Groups.

To view Patient Videos, please click on the Knowledge Portal.

Patient Advocacy Groups


brighter-tomorrows

Sickle Cell Disease Association of America, Inc.

www.sicklecelldisease.org/index.cfm?page=about-scd


jewish-genetic

Jewish Genetic Disease Consortium

http://www.jewishgeneticdiseases.org/



ghr

Genetics Home Reference

https://ghr.nlm.nih.gov/


nih

National Human Genome Research Institute

https://www.genome.gov/



cooleys-footer-logo

Cooley’s Anemia Foundation

http://www.thalassemia.org/


mayologo

Mayo Clinic

www.mayoclinic.org


Cystic Fibrosis Foundation

https://www.cff.org/


ViewEdoc

National Tay-Sachs & Allied Diseases Association

www.tay-sachs.org/taysachs_disease.php


The-cure-tay-sachs

The Cure Tay-Sachs Foundation

www.curetay-sachs.org/about.shtml


FRAXA Research Foundation

www.fraxa.org/