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This is Fertility is a podcast by Progyny where we fuse narrative storytelling with experience and science to give you a new perspective on what it's really like to go through a family building journey.
Hi. Welcome to This Is Fertility, a podcast from Progyny and your one stop shop for all things fertility and family building. In this series, we share conversations with doctors, patients, and advocates to better understand the many paths to parenthood and all of the science, emotions, and decisions along the way. In today's episode, we talk with Doctor. Catherine Kanaras, a reproductive endocrinology and infertility specialist at CCRM of Boston about pre implantation genetic testing of embryos.
Speaker 1:First, we asked about PGTA.
Speaker 2:PGTA stands for pre implantation genetic testing for aneuploidy. Aneuploidy is when there are in missing a cell. Each of the cells in the embryo should have 46 chromosomes, 23 chromosomes from the egg, and 23 chromosomes from the sperm. And embryos that have an incorrect number of chromosomes are less likely to implant and lead to a successful pregnancy. So PGTA is a tool that your care team can use to help select the best embryo for your embryo transfer.
Speaker 1:So PGTA is a way to screen embryos for abnormalities, but there's another option called PGTM, which can be transformative for those who might need it.
Speaker 2:PGTM stands for pre implantation genetic testing for monogenic disorders, which is a genetic condition that originates from a mutation or a change in one gene. PGTM can be used for autosomal recessive or autosomal dominant conditions. For example, let's talk about cystic fibrosis, which is an autosomal recessive condition. So if a male partner and a female partner are both carriers of cystic fibrosis, neither of them would be affected by this condition, but each of their offspring would have a twenty five percent chance of being diagnosed with this disorder. By performing PGTM, the gene that leads to cystic fibrosis can be analyzed in the embryo to determine which embryos would be carriers or affected or unaffected by this genetic condition.
Speaker 2:Another example is if an individual is a known carrier of a BRCA1 or BRCA2 mutation. This is an example of an autosomal dominant condition. And statistically half of the embryos created from that individual would carry this genetic condition. And PGTM is a tool to identify which embryos are carriers of that BRCA1 or BRCA2 mutation, allowing your care team to select an embryo that does not carry the mutation in that specific gene.
Speaker 1:Thanks for listening. And if this episode was helpful, subscribe for more expert insights and real conversations. And remember, the content of this video is for informational purposes only and does not constitute medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health providers with any questions you may have regarding a condition.