You have a genetic condition, or you are at-risk for developing one. Or maybe you and your partner found out you both carry a mutation for the same genetic condition. You’ve had confirmatory testing. Basically, you know you are a candidate. And now you may be considering preimplantation genetic testing (PGT) with in vitro fertilization (IVF) to achieve a pregnancy, either in the immediate future or farther down the road. That may be a significant shift from the way you expected to conceive or you may have known this was an option you wanted to pursue but are now looking into it more seriously. For otherwise healthy couples that may be able to naturally conceive, electing to have a baby via IVF with PGT can bring up a lot of thoughts, emotions, and considerations. It may be helpful to work through some of those things preemptively to prepare yourself and ensure this is the right path for you and your partner.
Are you and your partner on the same page?
Ultimately, this may be the most important consideration. Conception is a journey no matter how it is achieved, but it can be emotionally and physically challenging in different ways when done via IVF with PGT, particularly when the option of conceiving naturally remains. It is important to address how both you and your partner feel about choosing this path in order to avoid having a child with a specific genetic condition. Serena Talcott Baughman, a genetic counselor at ORM Genomics says “There are already so many variables to consider with [PGT] – cost, timeline, complexity of developing a test – that when the disease itself is at the center of the conversation, things can get more personal.” It may be helpful for both of you to talk with a genetic counselor about PGT in addition to your other reproductive options so you can make an educated decision together on what path is best for your family.
Would preliminary fertility evaluations be helpful?
About 15% of couples experience infertility after one year of trying to conceive naturally. This can be due to male infertility factors, female infertility factors, or a combination of both. Some of these factors may make IVF more difficult or even impossible. Given the potential for these challenges to exist without your knowledge, it may be helpful to find out if there are any fertility issues that may complicate IVF before making a decision to pursue PGT.
Are family members supportive?
If you are considering PGT, it may be because you have a family history of a genetic condition. Knowing and caring for people in your family with this condition may make it hard to talk to family members about potentially pursuing PGT. Many people fear that their family will misinterpret or be hurt by their desire to avoid passing on this condition to a future generation. Several studies have found that the low uptake of PGT may actually be due to a lack of awareness of this technology and not an ethical, religious, or personal belief. Talking with and educating your family about PGT prior to beginning the process may help alleviate some of these concerns.
What financial planning might be necessary?
One of the biggest barriers to reproductive technologies like IVF with PGT is cost. Most major insurance companies and government providers of insurance do not cover IVF with PGT unless there is a demonstrated fertility issue preventing natural conception. Even then, coverage varies largely state by state and by insurance provider and even when coverage exists, it can extend to some portions of the process and not others.
On average, a single round of IVF costs $10,000 to $16,000. The cost of PGT for a monogenic disorder is between $6,000 and $12,000. Additional expenses for medication, labs, travel to and lodging at the clinic must also be factored in to the overall budget for the procedure. It is easy to see how the process can become cost prohibitive. Therefore, many couples begin planning financially far in advance of when they anticipate starting the procedure to ensure they are able to cover all related costs. It may be beneficial to talk with the financial coordinator at your chosen fertility clinic to discuss the anticipated costs and preauthorize what insurance benefits may apply. Despite the expense, many couples are willing to accept the up-front costs in exchange for the peace of mind that their child will not have a genetic condition that may require expensive treatments or medical care during or throughout their lifetime.
If not now, what steps do you need to take to preserve the option for the future?
While you may be thinking about how to mediate the risk of passing on a genetic condition to your children, you may not yet be ready to get pregnant. Many women are planning now for their future fertility. One of the most salient considerations is age. Women are born with all the eggs they are going to have and those eggs age as they do. Therefore, the number of eggs available to fertilize decreases with age while the risk for chromosome conditions like Down syndrome increases. As such, some women who are aware that they would like the option of pursuing PGT in the future elect to freeze their eggs (called “egg cryopreservation”) now to increase their chances of conceiving at a later date.
Elective or “social” egg freezing does carry its own risks and is not a guarantee that conception will be achieved when desired. It is technically more difficult to freeze an egg than an embryo. Techniques like vitrification (flash freezing) have significantly increased our ability to successfully freeze and thaw an egg cell (90-97%), but the fertilization rate of these egg cells is notably lower (71-79%). Additionally, the cost of egg freezing may be a significant consideration for some as there is a substantial upfront expense. Most insurance companies do not currently cover these costs. However, the increasing number of younger women who are interested in egg cryopreservation may be driving down the cost or at least opening up other, more realistic options for how to afford this process.
Resources to Consider
There are obviously many things to consider when deciding whether or not to pursue IVF with PGT and when. It is never too early to set up an appointment with a genetic counselor to ask questions about PGT and map out a plan for where to go from here.
As a licensed genetic counselor and digital health consultant, Jessica Greenwood works with health-related organizations looking to deliver memorable messages of health in the digital space. Mrs. Greenwood started her career in a clinical role, working for eight years as a preconception and prenatal genetic counselor before transitioning to industry. Mrs. Greenwood completed a year-long certificate program in Digital Health Communication at Tufts University that spearheaded her work in digital health. She now consults with health-related organizations, assisting with the creation and execution of a digital strategy including the development of health literate patient-centered educational materials. Mrs. Greenwood earned a Bachelor of Science degree from North Carolina State University with a minor in Genetics and a Master of Science in Genetic Counseling from the University of North Carolina at Greensboro.