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Recurrent pregnancy loss: How genetic testing can make all the difference
10 October 2024
Richelle Marty and her husband had been trying to conceive for nine months when they decided it was time to explore other options. Despite monitoring their fertility at home, they were perplexed by their fertility challenges.
“We used a range of tools during that time: at-home hormone testing kits, ovulation testing strips, a natural birth control app—essentially, anything we could buy that might be helpful,” says Richelle. “I used almost all of them simultaneously, thinking that we just didn’t have the timing right.”
Then, after scheduling an appointment with her OB-GYN, Richelle underwent blood tests to check her hormone levels. Most of her numbers were within normal ranges, but her anti-Müllerian hormone (AMH) levels, which is a good indicator of egg quantity (ovarian reserve), were low for her age (early 30s).
Richelle’s OB-GYN then referred her to a reproductive endocrinologist, a specialist in diagnosing and treating reproductive health concerns including infertility. Richelle and her husband underwent carrier screening to see if either of them carries a genetic mutation that could impact their pregnancy. While these initial carrier screening tests didn’t reveal any causes for concern, they marked the beginning of a long and complicated fertility journey.
Persisting through adversity: From IUI to IVF to pregnancy loss
In 2022, Richelle and her husband began their fertility journey at their first clinic, where they underwent two rounds of intrauterine insemination (IUI). Also known as artificial insemination, IUI is a fertility treatment that involves placing a concentrated sperm sample directly into the uterus during ovulation to increase the likelihood of pregnancy.
Unfortunately, both rounds of IUI failed. Still, Richelle and her husband persisted. They soon tried a different fertility treatment called in vitro fertilization (IVF), which involves retrieving eggs from the ovaries, fertilizing them with sperm in a laboratory and placing one or more of the fertilized eggs (i.e., embryos) into the uterus. In Richelle’s case, she and her husband chose to go with a frozen embryo transfer, meaning there was a period between the egg fertilization and the implantation of the embryo. During that time, the embryo remained frozen in a lab while Richelle underwent a hormone treatment protocol to help increase her chances of pregnancy before transferring the embryo.
Richelle’s IVF cycle resulted in retrieval of one low-quality egg, meaning the egg would likely have an impaired ability to fertilize and develop into a healthy embryo. While the egg was successfully implanted, Richelle ultimately experienced a miscarriage at 9 weeks.
“This was incredibly hard to go through,” she says. “I didn’t fully understand what was happening, considering I was pretty naïve and thought I would be in the clear once I got pregnant. I wish someone had been honest about how isolating it would feel afterward and how it would change my entire perception of pregnancy. I’ll never experience pregnancy again without using my miscarriage as a benchmark for how poorly things could go.”
She knew the miscarriage was not her fault, but Richelle says she had a hard time “fully believing” that. “I blamed myself for it for months,” she says. “I wish someone had acknowledged that this is a loss that will hurt for a long, long time, and that’s OK.”
Richelle says her miscarriage helped her realize that she needed to find a healthcare team that would make her feel better about the entire process. “After this experience, I switched clinics, found a new reproductive endocrinologist and did another egg retrieval,” she explains. “Per my provider, due to my age, no additional testing was done.”
Since then, Richelle has undergone four embryo transfers. Two of those embryos resulted in failed implantation, while another ended as a biochemical pregnancy (i.e., a very early miscarriage) at 5 weeks. The final embryo ended in a miscarriage at 8 weeks.
“Following my most recent loss, I began working with a reproductive endocrinologist specializing in recurrent pregnancy loss,” says Richelle.
Looking back: Could genetic testing have made a difference?
Since their carrier screening results hadn’t revealed any genetic risks at the beginning of their fertility journey, Richelle and her husband were hesitant to pursue any further genetic testing. When given the option of genetic testing for chromosome imbalances, like trisomies and monosomies, for their embryos—also known as preimplantation genetic testing for aneuploidy (PGT-A)—they were scared. Preimplantation genetic testing (PGT) can technically be performed with any IVF cycle, but it is most frequently considered when the egg contributor is over 35 years of age (PGT-A) or when there is a known genetic condition present in the person or couple trying to conceive (or in their family) by preimplantation genetic testing for monogenic conditions (PGT-M). While the procedure is generally considered safe, the biopsy required for PGT is associated with the risk of potential damage to the embryos, and the test results may not accurately identify all genetic risks to the pregnancy.
Since Richelle was in her early 30s and her carrier screening results with her husband showed no signs of a shared genetic mutation that could affect their pregnancy, they chose not to move forward with PGT-A.
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"We were unsure about the risks and the accuracy of these tests, so we decided not to proceed with them,” she explains. “Looking back, I wish we had done the genetic testing, as it could have saved us a lot of heartbreak and provided more answers about our losses.”
Now that she and her husband are more aware of the benefits of genetic testing, Richelle says they have decided to opt for genetic testing on all their embryos for future egg retrievals.
“We now understand the critical role genetics play in our fertility journey and seek more certainty and clarity this time,” she says. “Additionally, we recently had a recurring pregnancy loss panel done that showed some genetic concerns, which we are now diving deeper into with our reproductive immunologist.”
A recurrent pregnancy loss panel can include multiple types of tests, such as microarray testing, which can help analyze tissue from a miscarriage or termination for various types of chromosome abnormalities.
Genetic counseling has also provided Richelle and her husband with invaluable insights to help them better understand their genetic test results and their potential implications for their family.
“I am currently dealing with a genetic issue related to a clotting disorder that might have played a role in my miscarriages,” says Richelle. “My genetic counselor put me in touch with a specialist who is now treating me and working closely with my reproductive endocrinologist. Together, they’re helping us to identify the potential genetic factors involved and guiding us toward the appropriate medical support team.”
Raising awareness about infertility
Infertility impacts approximately 48 million couples around the globe. Despite how common it is, Richelle describes the experience as significantly “lonely” and “loaded with shame.”
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"Finding the courage to talk about infertility was one of the greatest gifts this incredibly difficult road gave me,” she says. “If you are in the thick of it right now, please find someone to talk to openly. If you know someone going through it, please listen. I know so deeply the excruciating pain that comes from failed IVF, pregnancy announcements and the grief of losing something that you can’t quite talk about.”
Richelle also emphasizes the importance of being intentional when choosing your healthcare team throughout your fertility journey.
“When navigating the process of finding the right reproductive endocrinologist, my first piece of advice is to choose a fertility clinic that’s not only well-rated but also convenient for you,” she says. “Monitoring appointments are so frequent, and there have been times when I was happy that I was able to walk only a few blocks to my clinic when they wanted to see me for a last-minute blood draw.”
Additionally, it’s helpful to have a good rapport with your healthcare team, says Richelle.
“I didn’t realize how crucial this was until I was two and a half years into the process and had to speak with my providers more than my family members,” she explains. “The doctor, nurses and the rest of the clinic team will play a significant role in your everyday life, guiding you through one of the most stressful periods you’ll have. Since you’ll be seeing them often, it’s important to feel comfortable with them.”
She also recommends finding community in places like social media groups, where people who have had similar experiences can share their perspectives and helpful resources.
As Richelle continues her fertility journey, she encourages others navigating the experience to be their own best advocate. “Do your own research—whether through online forums, friends who have been through it or articles you read. Knowledge is power and can help alleviate some stress by reminding you that you’re not alone.”
For more information about fertility and reproductive health, visit Labcorp and explore our resources for testing, education and more.