Can Genetic Testing Help?

For many couples, genetic testing has become an important part of modern fertility care, offering valuable information during treatment. Testing can identify inherited conditions, evaluate embryo health, and help guide reproductive decisions based on individual preferences. Results help fertility specialists tailor treatment to improve pregnancy outcomes. From carrier screening to preimplantation genetic testing (PGT), here’s everything to know before getting pregnant.

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Screening before pregnancy

Carrier screening is often recommended before conception to identify inherited genetic conditions that may affect future children. The test can also be ordered during early pregnancy if desired. Carrier screening is typically performed on 1 partner to start. If a genetic variant is identified, the other partner should be tested. If both partners carry the gene for the same disease, there is typically a 25% chance the child will inherit the condition. Most carriers have no symptoms, and often no family history of the condition, so testing is essential. Results help guide fertility decisions, allowing patients to pursue options that help decrease risk.

Understanding PGT

Preimplantation genetic testing (PGT) is another important test that can provide valuable information. PGT is performed early in the in vitro fertilization (IVF) process by removing a few cells from each embryo for testing. Several forms of PGT are available depending on the clinical situation. Preimplantation genetic testing for aneuploidy (PGT-A) evaluates chromosome number, while preimplantation genetic testing for monogenic disorders (PGT-M) identifies embryos affected by specific inherited diseases. Preimplantation genetic testing for structural rearrangements (PGT-SR) may also benefit couples with certain chromosome abnormalities.

Supporting healthier pregnancy outcomes

Genetic testing cannot guarantee a successful pregnancy or the birth of a healthy baby. However, testing can provide important information that helps fertility specialists recommend the most appropriate treatment for each couple. Carrier screening can identify couples at increased risk of passing an inherited condition to a child. If the carrier screen is positive, IVF with PGT can be used to identify healthy embryos for transfer. Patients opting for PGT during fertility treatment will be able to learn important information about each available embryo before transfer. Selecting a chromosomally normal embryo helps decrease miscarriage risk.

Genetic counseling matters

Results from carrier screening or PGT testing should always be reviewed with a qualified genetic counselor (GC) or healthcare provider. Counseling helps explain what results mean, reviews testing limitations, and allows dedicated time to go over available reproductive options based on individual circumstances. A complete understanding of results allows patients to move forward in the family-building process feeling informed and empowered.

Knowledge supports informed choices

Genetic testing is an essential part of fertility care for any couple looking to reduce risk. Carrier screening identifies inherited conditions that may affect future children, while PGT provides additional information about embryos created through IVF. Together, these testing options help fertility specialists develop individualized treatment plans based on each couple's unique needs. For many couples, these tests help enhance the fertility treatment experience, decrease miscarriage risks, and improve the chance of a healthy pregnancy.