This is Infertility

Genetic Testing: Preventing a Rare Blood Disorder Through PGT-M


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Growing up with a rare blood disorder can flip your world upside down. It can also make you question what to do when it comes to building a family and what options are even available. Luckily, science has progressed to a point where genetic testing before IVF can help increase the odds of a healthy singleton baby.

In this episode, Rachel Russell tells us her story on balancing Diamond Blackfan Anemia (DBA) while still wanting to have a child. DBA is a dominant disorder that primarily affects the bone marrow, which can cause anemia. There’s a 50% chance the disorder can be passed on, which meant Rachel and her husband were stuck on what to do. After extensive research, the Russells decided to move forward with PGT-M (Preimplantation Genetic Testing for Monogenic, formerly known as PGD), so the doctor could transfer an embryo without the rare disorder.

We also hear from Dr. Beth Plante, a reproductive endocrinologist at Fertility Centers of New England, who breaks down how PGT-M works.

For other episodes on genetic testing, check out:

  • Episode 46: Genetic Testing: Can it be Non-Invasive?
  • Episode 45: Genetic Testing: Is it Cost Effective?
  • Episode 44: Genetic Testing: IVF and Fruitful Fertility

Guest: Rachel Russell, Infertility Advocate and Dr. Beth Plante, Fertility Centers of New England

Host: Shannon Zuber

For more information visit Progyny’s Podcast page and Progyny’s Education page for more resources.

Be sure to follow us on Instagram, @ThisisInfertilityPodcast and use the #ThisisInfertility.   

Have a question, comment, or want to share your story? Email us at [email protected].

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