What Embryonic Genetic Testing Can (and Can’t) Tell Us

Embryonic genetic testing is fast becoming a standard part of infertility treatment. What can genetic testing of embryos tell us? Host Dawn Davenport, Executive Director of Creating a Family, the national infertility & adoption education and support nonprofit, interviews Dr. Mark Evans, medical director at Comprehensive Genetics and Professor of Obstetrics & Gynecology at Mt. Sinai School of Medicine.

Hit the Highlights
  • Premimplantation Genetic Testing of embryos in IVF
    • Let’s get our terminology straight at the beginning. PGS, PGD, CCS. What do these mean and what is the difference?
    • What is the latest in genetic screening? Is it still CCS?
    • What kinds of things can you test for? Is there a list? Do you pick and choose what to test for or is it all just included? Or is it more based on a potential risk assessment given family med history? And if so, what would you do for a person who didn’t know their full family med history (adoptees, people who don’t know/have lost touch with one of their parents, etc.)
    • What is the cost? This is a real issue for patients.
    • Under what circumstances is health insurance more likely to cover the cost of genetic testing of embryos?
    • What is the research showing for how effective genetic testing is for reducing miscarriage and increasing implantation and pregnancy rates?
    • How often do false positives and false negatives occur?
    • I recently read an article in the NY Times about mosaic embryos (those with both normal and abnormal cells) and the controversy over whether or not to transfer them – especially if they are the only embryos someone has. Some normal births have resulted, but there are still a lot of questions about the ethics of transferring potentially abnormal embryos. What kind of work is being done to sharpen these screenings to account for situations like this?
    • Is there a framework in place for patients who – either because these are the only embryos they have or because they have particular moral/religious beliefs – want to transfer these embryos?
    • What does the research say about percentage of mosaic blastocysts that self-correct, pushing the abnormal cells to the tropectoderm layer?
  • Genetic Testing After Conception but Before Birth
    • What techniques are currently available for prenatal genetic testing?
    • Maternal blood tests for genetic testing.
    • What things can you test for?
    • What is known about testing results which show mosaic chromosomes?
    • Risks of these tests for miscarriage
    • Confusing test results

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Image credit: Håkan Dahlström
Show originally aired in 2016.