What Preimplantation and Prenatal Genetic Testing Can & Can’t Tell Us

Prenatal genetic testing is becoming increasingly common in IVF with genetic testing of embryos,and in pregnancy, with amniocentesis and CVS and blood tests. What can these genetic tests tell us and what can’t they 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: essenj
Show re-aired in 2018.