Can Genetic Testing Increase IVF Success?
Infertility is a common problem, affecting approximately 1 in 6 people. While the inability to conceive can be incredibly frustrating, assisted reproductive technology (ART) has opened the doors to parenthood for countless couples. In vitro fertilization (IVF) is often considered the gold standard treatment for getting pregnant. While IVF alone is effective, genetic testing can further improve the chances of success. Here’s what to know about these important tests.
IVF basics
During IVF, the patient is given fertility medication to encourage the development of multiple eggs during a single cycle. Once mature, eggs are retrieved and combined with sperm in a laboratory to create embryos. At this stage in treatment, genetic testing can be performed on the embryo to gather more information. Patients can then select chromosomally normal embryos for transfer, increasing the chances of successful implantation and decreasing miscarriage risks.
Genetic testing 101
Several forms of genetic testing exist within fertility care, each serving a distinct purpose. Carrier screening is often one of the first tests offered to IVF patients. This test evaluates whether the parents-to-be carry genes linked to inherited conditions such as cystic fibrosis (CF), spinal muscular atrophy (SMA), or fragile X syndrome. Since many carriers are asymptomatic, testing is the main way to identify the risk of passing the gene to a future baby. Preimplantation genetic testing (PGT) is another important genetic test that evaluates embryos created through IVF before transfer. PGT-A screens for aneuploidy, while PGT-M targets single gene disorders. Using just a few cells from the earlier embryo, PGT can screen for genetic conditions such as Down syndrome, Huntington's disease, and Tay-Sachs.
When testing is recommended
Although any individual can request genetic testing, there are certain scenarios during IVF when additional testing is recommended to improve success rates. Since advanced maternal age (AMA) is associated with higher rates of aneuploidy, PGT-A testing is particularly relevant for these patients. Recurrent pregnancy loss frequently prompts evaluation for chromosomal abnormalities in embryos before transfer. A known family history of genetic disease also warrants consideration of PGT-M to reduce the risk of passing down conditions.
Pros and cons
Genetic testing provides valuable information about chromosomal abnormalities and genetic conditions. By screening embryos before transfer, patients can select the best option available, increasing implantation rates, decreasing miscarriage rates, and improving pregnancy outcomes. The benefits of genetic testing typically outweigh potential risks, but patients should be aware of possible limitations of testing. Mosaicism, where some cells are normal and others abnormal, can complicate embryo classification. Laboratory techniques have high accuracy, though no test offers absolute certainty. Not all fertility challenges arise from genetic factors, so testing may not address every cause of infertility. Meeting with a genetic counselor (GC) before pursuing any genetic testing can help support informed decision-making.
A more informed IVF path
Integration of genetic testing into IVF creates a more individualized treatment pathway. Evidence supports improved implantation rates and reduced miscarriage risk with appropriate use of PGT. Families gain clarity regarding inherited conditions through carrier screening. Collaboration between laboratory specialists and clinicians ensures accurate interpretation of complex results. With genetic knowledge, couples can select the best embryo to transfer, improving the odds of a successful IVF cycle.
