If you’re currently trying to conceive or planning pregnancy, genetic testing for fertility is essential. Modern preconception genetic testing continues to evolve rapidly, offering more precise insights into reproductive risks and options before pregnancy.
Genetic Testing for Fertility
informed choice for a healthy baby
Why consider genetic testing before pregnancy
A great starting point to understanding preconception genetic testing is to return to the core goal: having a healthy baby. From this perspective, fertility genetic testing becomes a practical step in planning ahead. Many people are surprised to learn that a significant portion of genetic risk to offspring is unrelated to personal family history. This principle is fundamental in reproductive planning. A major portion of genetic risk exists even without known family conditions, which is why genetic testing before pregnancy is increasingly recommended.
Four genetic testing opportunities in fertility
We’ve organized genetic testing into four opportunities to improve the chances of a healthy baby. Regardless of your situation, the first two options in fertility genetic testing are broadly recommended. The remaining two apply to more specific reproductive scenarios.
Testing yourself (preconception genetic testing)
The first step in genetic testing for fertility is to test yourself to determine whether you carry genes that could affect a future child. Some of these genes may also provide insight into your own long-term health. Family history alone is not a reliable indicator, because carriers often have no symptoms.
This process, known as expanded carrier screening (ECS), is a key component of carrier screening fertility. It can be done via bloodwork or saliva at any time before attempting pregnancy, either at home or in a clinical setting. That means genetic testing before pregnancy can be done proactively, even before fertility treatment begins.
400+
Number of silent genes for which testing can be done
25%
Chance of offspring being affected with a genetic disease if both egg and sperm sources are gene mutation carriers
60%
Percentage of U.S. population with common medical conditions for which gene susceptibility testing is available
Testing your embryos (preimplantation genetic testing PGT)
The second genetic testing opportunity applies to IVF and involves sampling a small number of cells from the outer layer of an embryo (not the part that becomes the baby). This allows detailed genetic testing of embryos IVF to assess chromosomal and genetic conditions.
This process is known as preimplantation genetic testing (PGT). Some forms, such as PGT-A testing, can be considered broadly because they screen for chromosomal abnormalities that affect all populations. Other forms, including PGT-M and PGT-SR, are used in specific genetic conditions.
A blastocyst (the embryo stage at which time a biopsy can be performed)
For everyone
A
Aneuploidy
Aneuploidy refers to chromosome pairs that have gained or lost a chromosome, which is one of the most common findings in PGT-A testing.
WGS
Whole genome sequencing
Whole genome sequencing represents the latest advancement in fertility genetic testing, allowing analysis at the DNA base-pair level for maximum resolution.
For some people
M
Monogenic Deffects
Whole genome sequencing represents the latest advancement in fertility genetic testing, allowing analysis at the DNA base-pair level for maximum resolution.
SR
Structural Rearrangements
Structural rearrangements occur when segments of chromosomes are rearranged, which can impact embryo development and fertility outcomes.
80%
Percentage of embryos that are genetically abnormal at age 40
<1%
Chance of having a child born with down syndrome
after PGT-A
10%
Percentage of neurodevelopmental disorders detected with PGT-A using WGS
Testing after recurrent pregnancy loss
Experiencing pregnancy loss can be one of life’s most difficult challenges. In cases of recurrent pregnancy loss, genetic testing miscarriage analysis may help identify underlying causes. It is now possible to evaluate genetic factors using tissue from a pregnancy loss, in a way that is conceptually similar to PGT-A testing.
For repeated losses, karyotype testing of both parents is typically recommended as part of fertility genetic testing.
Genetic testing for severe infertility
In more specific cases, additional genetic testing for fertility may be indicated for both women and men with significantly reduced egg or sperm counts. These tests may include karyotype analysis, Fragile X testing, and Y chromosome microdeletion testing, depending on the clinical situation.