Carrier Screening

What will I do with my carrier screening results?

If you are a carrier of an inherited condition, the first step is for your partner to have carrier screening.

If you and your partner are NOT carriers for mutations in the same gene (your partner could not have any mutations or he could have a mutation in a different gene), the risk of having a child with any of the inherited conditions screened for is very low.

However, if you and your partner are carriers for the same condition, or the mom of the pregnancy is a carrier for an X-linked condition, you’ll probably want to learn more about the condition so you can make decisions that are right for your family. Your healthcare provider, a genetic counselor or support groups that can connect you with families with children who have the condition are all good resources for more information.

Pre-pregnancy

If you have had carrier screening prior to pregnancy and are found to be at risk of having a child with an inherited condition and would like to take steps to have an unaffected child, you can:

Pursue in vitro fertilization (IVF) with preimplantation genetic testing

During IVF, a fertility specialist can look at the genes of your embryos and select only those that will not be affected by the inherited condition you are at-risk for. This is called preimplantation genetic testing for monogenic/single gene diseases, or PGT-M.

Consider other family-building options

You can greatly reduce the risk of having an affected child by finding an egg or sperm donor that is not a carrier for the same condition. Adoption is another option you might consider.

Already Pregnant

If you are already pregnant, diagnostic tests such as chorionic villus sampling (CVS) or amniocentesis can determine if an inherited condition was passed on to your child. Whether or not you decide to pursue diagnostic testing, you can also:

Speak to a specialist

Knowing your child requires a certain type of care before birth means you can involve the right kind of specialist long before delivery. For some inherited conditions, early intervention and treatments can make a big difference.

Find the right place to deliver

Depending on what your baby is at risk for, you might want to seek out a specialized facility that is equipped to manage newborns with inherited conditions.

Learning more from healthcare providers or support groups can help you understand your options.