Estimated reading time: 6 minutes
IVF genetic testing evaluates embryos for abnormalities before undergoing IVF treatment. These screenings enable parents who are trying to conceive to reduce the risk of miscarriages or or pregnancy failure. There are different kinds of IVF genetic testing including PGT-A or preimplantation genetic screening (PGS) as well as PGT-M or preimplantation testing (PGD). There is also carrier testing or a prenatal screening. Understanding these tests and their benefits can help couples to achieve their fertility goals. This article will help you understand what you need to know about IVF genetic testing (PGS & PGD) and its options.
Genetic Testing Options for Fertility
The New England Fertility Institute defines PGS (PGT-A) testing as "screening for the correct number of chromosomes in an embryo." "Women over 35, those with a history of miscarriages, and those with known genetic diseases are recommended to undergo PGS." PGD "uses the same process to detect specific disorders that have a high probability of being passed down from parents to offspring."
When to Consider IVF Genetic Testing (PGS & PGD)
PGD Testing
If you are aware of a genetic condition that may exist in your family, PGD testing may be a logical step on your fertility journey. This way, you can explore the risks or possibility of passing on this genetic condition to your future child and significantly lower these risks throughout your fertility journey. "A PGD test is custom-designed for each family, based on the specific disease and mutation they inherit. The patient or couple will provide their genetic testing results and information to the lab," according to Vitrolife Group. The lab will ask for genetic results from a variety of sources including the egg sample, semen sample, as well as from various family members to develop the probe. This process takes a number of weeks.
Benefits of PGD Testing
Fertility treatments help the carrier to produce a larger quantity of eggs than is standard with hormonal treatment. This larger quantity of eggs helps to eliminate the eggs that are affected by the genetic abnormality and reduce the risk of passing it on.
Risks of PGD Testing
There are some inherent risks to PGD testing that include inaccurate results, embryo damage, no suitable embryos that result from the treatment, and mosaic embryos (which have a mix of normal and abnormal cells.) Older individuals attempting to give birth are at a higher risk for these abnormalities.
PGS Testing
The Fertility Institute of New Jersey and New York says "PGS is a procedure that involves a biopsy of a few cells from an embryo to analyze its genetic makeup. The embryo is then frozen and transferred into the uterus during a frozen embryo transfer (FET) cycle."
Benefits of PGS Testing
There are a host of benefits to undergoing PGS testing that include:
- Reducing the risks of a miscarriage by identifying embryos that are healthiest.
- Reducing the risk of genetic diseases by eliminating embryos that are affected.
- Saving money by reducing the number of procedures that you must undergo.
Risks of PGS Testing
The risks for PGS testing are similar to those of PGD testing. PGS testing can also result in ovarian hyperstimulation syndrome. This syndrome can result in multiple pregnancies and lead to congenital disabilities for the fetus.
Carrier Testing
According to the Washington State Department of Health, carrier testing (carrier screening), is typically done using a blood sample, saliva, or cheek swab. Most carrier screening is for recessive disorders, which means both biological parents must have disease-causing changes in the same gene for their child to be affected." Recessive disorders are conditions where both copies of the same gene need to be altered to cause the disease. The parents are unaffected because they only have one copy of the altered gene. Some common conditions that carrier screening tests for include cystic fibrosis, spinal muscular atrophy, fragile X syndrome, and sickle cell anemia.
Benefits of Carrier Testing
More than anything, the benefits of all of these screenings and tests are that parents or future parent can make more informed decisions about their fertility journey. Carrier screening also helps improve prenatal care, as well as reduces stigma often associated with certain ethnicities or races who are trying to conceive.
Risks of Carrier Testing
Much like the other two tests above, carrier screening can also result in inaccurate results as well as cause emotional, social or financial risks associated with the screenings. More than anything, having this knowledge can cause additional stress or strain on a family that is attempting to conceive. Because it can result in incomplete information about the results of the pregnancy, it can actually increase your anxiety around the pregnancy before it has even begun. Talk to your doctor about the benefits and risks of each of these tests before deciding whether or not to proceed. It may be the right option for you, but understanding the full scope of the process is critical to the health of you, your family, and your potential child.
How Genome Medical Can Help
Genome Medical is a Telehealth company specializing in genetic healthcare, providing virtual consultations with genetic counselors and specialists to help patients understand their genetic testing options for fertility, risks and interpret genetic test results. They partner with health systems, labs, and biopharma companies to expand access to genomics-based medicine. By providing patients with a host of resources and educational materials, you can not only understand what you qualify for, but also how to navigate these often complex processes. The more empowered you are with knowledge, the more confidently you can proceed with these tests in a way that feels safe and healthiest for you and your family. You can schedule a counseling session with Genome Medical to create your plan.
Conclusion
Navigating genetic testing options for fertility can feel overwhelming. PGS, PGD and carrier testing can be a great place to start. Consider all of your options and seek guidance from a counselor like those at Genome Medical for more information.
Join PatientsLikeMe for Support
PatientsLikeMe puts you in control of your health by providing you the tools and community support you need to manage your fertility journey. Join others who share their experiences with infertility and insights, offering advice and encouragement. Track your symptoms, treatments, and outcomes with ease, making it easier to see the full picture of your health and communicate better with your healthcare team. You can also evaluate the effectiveness of treatments based on comprehensive patients' data. Join for free today.
