Understanding Genetic Results: Carrier Screening

While most babies are born healthy, with every pregnancy there is a small chance of having a baby with a genetic disorder. Carrier screening can uncover your and your reproductive partner’s combined risk of passing an inherited genetic condition to your child.

If you are a carrier, it means that you have a change in one copy of a gene that increases your risk of your child inheriting the associated disorder. For most disorders, both you and your partner must be carriers for your children to be at increased risk.

Carriers are typically healthy and don’t have symptoms. What’s more, carriers often don’t have any family members with the disorder.

That’s because every child inherits half of their DNA from their mother and half from their father. In most cases, both you and your partner must be carriers of the same disorder for your children to be at increased risk. If you are, it’s helpful to know ahead of time.

Next steps

Once you receive your results, you will want to share them with your OB or midwife. In addition, if your partner has not yet had testing, you will want them to do so too.

There are many options for what to do with your carrier screening results, including:

• You can simply keep the information in mind, so you know your future child’s risks.

• If you’re already pregnant, talk to your care team about next steps. One option they may suggest considering is testing your amniotic fluid. It contains your child’s DNA and can tell you if your child has inherited the condition. If they have, your care team may recommend giving birth at a hospital that’s able to care for a baby with that condition. You could also consider scheduling appointments ahead of time with doctors experienced in caring for children with the condition.

• If you’re not pregnant yet, your care team may recommend considering IVF with genetic testing of the embryos to help identify embryos that did not inherit the condition.

Every family's situation is unique. If your carrier screening results reveal significant risks, the Genomic Life navigation team can help explain medical terms and options, identify resources, guide you to specialists, and more.