Physical Health

7 Things You Need to Know About Preimplantation Genetic Testing


There are so many unknowns that can come along with the decision to try to have kids. From how your pregnancy might go (do you get morning sickness? Does the sickness last all day? Do you feel like a superhero?), to the sex of the baby, what the baby’s personality might be like later on down the line, the decisions that you’ll have to make — it goes on and on and on. You might wonder how the baby’s life will go, or if you’ll pass on your smile or sense of humor. But some parents-to-be may also wonder if they may be passing on any genetic conditions or cancer, particularly if they have a family history.

In some cases, the answers are available in advance if you’re interested in pursuing them. That’s where preimplantation genetic testing (PGT) comes in. 

“Preimplantation genetic testing (PGT) for hereditary cancers (also known as PGT for monogenetic disorders) is a reproductive choice offered to couples/individuals who are known carriers of an inherited cancer mutation which will significantly increase their lifetime risk of getting cancer,” Dr. Mandy Katz-Jaffe, PhD, the scientific and genetics director at CCRM Fertility, said.

That means that if you or your partner might carry a genetic mutation that could raise the risk of your baby getting cancer at some point in their life, PGT might be for you so that you can minimize that risk.

To get the low-down on everything we all need to know about PGT, from how the process works to who it might be best for, we turned to Katz-Jaffe. Here’s what she had to say.


1. If you have a family history of hereditary cancer, PGT might be for you.

If there’s a chance that you have a genetic mutation that might be related to your family’s history of certain cancers (like the BRCA mutation, for instance), you might want to explore PGT. Talk to your doctor, ask all the questions you can muster, and weigh the pros and cons of moving forward with the process.


2. Knowing your family medical history is critical if you’re considering PGT.

If you know that you have a family history of breast cancer or other potentially-inherited cancers, it’s important to have an open conversation with your doctors. “Ask your doctor if you are at increased risk of developing breast cancer based on your family history and whether you are a candidate for hereditary breast cancer genetic testing,” Katz-Jaffe advised. “Genetic testing might reveal a hereditary breast cancer mutation in your family. Knowledge about your genetics is powerful and will allow your medical team to recommend screenings guidelines and/or treatment as required. Additionally, it will allow you to make informed choices regarding your reproductive journey.”

It may not seem very festive but chatting when you’re all together for a family event or holiday can even be a good way to go about it, Katz-Jaffe said. That way, you can hopefully get the most accurate and complete information possible (because there will be so many people there to confirm what’s said). Make sure you know these family members’ histories: your parents, aunts and uncles, siblings, nieces and nephews, grandparents, and your kids. You also need to understand what kind of cancer they had, how it was treated, and (if applicable) if it contributed to their death.

Then, make sure you’re having an open and honest conversation with your doctor about what you’ve learned and what it might mean for your own health — and the health of any kids down the line.

“I was diagnosed with breast cancer at 28 years old — just a two months after getting married,” Allie Brudner, co-founder of The Breasties, said. “A family was always something that we wanted, but something that was in our future — we weren’t ready to talk about kids just yet…After my diagnosis, I found out that I carry the BRCA1 genetic mutation. For me, this really was the driving force behind a lot of my decision making in terms of treatment choices and fertility.”

Brudner and her husband chose to pursue PGT. “I strongly believe that knowledge is power,” she said. “Finding out about my genetic mutation also made me realize that I now had the power to prevent future generations from going through what I went through…Maybe my diagnosis happened, so I can end the pattern of mutation in my family. I have that power.”

Conversations with your healthcare provider are key.


3. Just because you have a family history of cancer doesn’t necessarily mean that there’s a genetic factor.

Because your family history with cancer may have nothing to do with any sort of genetic mutation, you, yourself will likely need genetic testing. If you are concerned about your family history, getting genetically tested can help your doctor get a better idea as to if it’s because of a genetic mutation or not. If it is, then PGT might be something you’d want to consider. If it’s not, then PGT may not be for you.

Likewise, if you don’t or can’t know your family history, genetic testing can give your doctors a clearer picture about what you may be passing on to your children.


4. If you’re going to have PGT done, you’re going to do an IVF cycle too.

Here’s how it works. “In conjunction with an in vitro fertilization (IVF) cycle, embryos are created and genetically tested to identify the ones that inherited the family cancer mutation and the ones that didn’t,” Katz-Jaffe explained. So first, you go through the beginning part of the IVF process and eggs are retrieved. After that, they’re fertilized and the resulting embryos go through the PGT process. Once that’s done, doctors will know which embryos to transfer (the ones that don’t have genes with the potentially disease-causing genetic mutation).

“Embryos identified to be free of the single-gene disease are selected for transfer to the uterus during an IVF cycle,” Katz-Jaffe added.

This is a big deal. “The impact of this reproductive choice is not just the initial offspring that will be free of the hereditary family cancer mutation, but the subsequent generations to come that will also be free of this significantly increased lifetime risk of getting cancer.”

That means that the outcome can potentially be really major. Not only would your kids not be at such a high risk of developing that cancer, but neither would their kids, or their kids’ kids. You get the idea.


5. It’s not just for cancer.

Beyond testing for genes that may increase someone’s cancer risk down the road, the process can also be used for some other chronic conditions as well. “PGT can be used for any known single-gene disorder (such as cystic fibrosis, Tay-Sachs disease, muscular dystrophy),” Katz-Jaffe explained.


6. The process is costly.

Between the testing itself and the IVF that accompanies it, there’s obviously a price associated with PGT. It can be pretty pricey — PGT is $2,500 at CCRM — but Katz-Jaffe noted that payment plans are available to help, so looking into the options available to you to help offset any costs associated with PGT itself, IVF treatments, genetic testing, medications, and other screenings is a good idea.


7. It can be a real difference-maker for both parents and child.

“I have had the pleasure of working with couples going through PGT for many years now and I think they can be the best source of advice,” Katz-Jaffe said. “They will tell you that the happiness and relief they experience with the birth of an unaffected [baby] is life-altering. They know that their children will live their lives without the genetic burden that has plagued their family for generations. That is a momentous gift any parent wants for their child.”



If you’re not sure if PGT might be right for you, whether you’re not sure if you have a family history of potentially hereditary cancers or you don’t know if it’s the right choice for you personally, conversations are a great next step. If it’s that you don’t know your family’s medical history, they’re the ones with which you should begin. If you’re not sure if the procedure is right for you, have a conversation with your doctor. They can potentially refer you to a fertility center like CCRM which uniquely operates its own Hereditary Cancer and Disease Prevention Lab. Led by Katz-Jaffe, she and her team of world-renowned molecular genetic scientists provides patients with the opportunity to eliminate these cancer mutations from a family tree for life with in-house, state-of-the-art genetic testing, IVF, and exceptional care along the way.

Fertility and family planning can be confusing or overwhelming in addition to all of the other emotions you may be feeling. But knowing your family’s history and knowing that there might be something that you can do to better understand your fertility and your future child’s health may give you a bit of calm amidst the uncertainty.



This post was in partnership with CCRM, but all of the opinions within are those of The Everygirl editorial board.