If Both Partners Are Carriers

Discover your options when both parents carry the same genetic condition, from genetic counseling to prenatal diagnosis.

If both partners are carriers of the same autosomal recessive condition, each pregnancy has a 25% chance of the child being affected, a 50% chance of the child being a carrier, and a 25% chance of the child being unaffected and not a carrier. Learning this before or early in pregnancy gives you time to consider options.

The first step is to meet with a genetic counselor. They can explain the condition, how it is inherited, and what medical care a child might need. They can also discuss reproductive choices without telling you what to do.

Options include conceiving naturally and considering diagnostic testing such as chorionic villus sampling or amniocentesis, using in-vitro fertilization with preimplantation genetic testing to select embryos less likely to be affected, using donor sperm or eggs, or adoption.

Some couples choose not to test the pregnancy and instead prepare for a child who may need early treatment. For example, SMA can be treated soon after birth, and early treatment improves outcomes.

There is no one right choice. The goal of carrier screening is to give you information so you can make the decision that fits your values and circumstances.

References

• National Society of Genetic Counselors. Reproductive Genetic Counseling. https://www.nsgc.org/
• ACOG. Carrier Screening FAQ.