Patient Advocacy Groups
Sickle Cell Disease Association of America, Inc.
Jewish Genetic Disease Consortium
Center for Jewish Genetics
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.
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.
More information is also provided below.
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.
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:
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.
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.
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:
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.