BONUS 237: Preimplantation Genetic Testing & Mosaicism in 2020

December 13, 2019

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Today’s bonus episode guest is Dr. Mike Large, senior director of research at CooperGenomics, which provides PGT and other reproductive genetic testing.

Episode Sponsor:

Infertility Coaching with Heather Huhman

Dr. Large and Heather discuss everything you need to know about preimplantation genetic testing and mosaicism in 2020:

INTRODUCTION

  • I’d like to start by hearing a little bit about you. Tell us about your academic background and training.
  • Why did you choose a career in reproductive medicine?
  • Take us through your career, including how you ended up at CooperGenomics.

PREIMPLANTATION GENETIC TESTING

  • Overall, what is preimplantation genetic testing (PGT)?
  • What are the three different types of PGT?
  • How is PGT performed?
  • What types of samples are needed for PGT?
  • Can listeners do PGT if they are using sperm or eggs from an anonymous donor?
  • Are there risks to the embryo(s) from the PGT process?
  • Does possible risk to the embryo(s) vary depending on the genetics company used?
  • When during an IVF cycle do listeners need to decide if they would like to do PGT?
  • Scenario: A listener does not have a family history of any chromosome conditions. Could PGT for aneuploidy (PGT-A) still be appropriate for them?
  • What types of chromosome abnormalities does PGT-A screen for?
  • What are the chances a listener’s embryo(s) will have abnormal chromosomes if they do PGT-A? Is the risk for chromosome abnormalities in embryo(s) related to age?
  • What are the benefits of PGT-A?
  • Are there any downsides to PGT-A?
  • What if a listener has a family history of a specific genetic condition? Can PGT detect that condition in their embryo(s)?
  • What information is required to perform PGT for a monogenic condition (PGT-M) or PGT for a structural rearrangement (PGT-SR)?
  • How accurate are the results of PGT? Do listeners still need to have prenatal diagnosis (chorionic villus sampling or amniocentesis) if they have PGT?
  • Do normal PGT results eliminate the risk for listeners’ embryo(s) to have a genetic condition?
  • What other genetic testing options do listeners have if PGT is not right for them?
  • What is the cost of PGT? Is it typically covered by insurance?
  • How long do PGT results take to return? How will listeners receive their results?
  • Take us through what PGT-A, PGT-M and PGT-SR results mean.
  • When should listeners consider genetic counseling?
  • Is there anything else you’d like to add?

MOSAICISM

  • What is mosaicism and how is it detected?
  • How common is mosaicism?
  • How accurate is mosaicism detection? What are the risks in relying on a single biopsy?
  • What is the difference between normal, abnormal, and mosaic embryos? Does mosaicism exist on a scale?
  • What is the prognosis of transferring a mosaic embryo vs. a normal one, and why? Is it even safe to transfer a mosaic embryo?
  • What is the latest research around mosaicism? What future research still needs to be conducted?
  • Do you know of any success stories involving mosaic embryos? If so, please tell us a bit about those cases.
  • Is there anything else you’d like to add?

WRAPPING UP

  • What words of hope would you offer to someone who’s considering PGT?

References:

Thanks for listening!

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