MRSi 2025: Lights, Camera, Action - The Stars of ART
Expert Lecture Series: Looking to the Future of Genetics in Reproductive Medicine the Spotlight is on CME/CE
| Date | Friday, June 6, 2025 |
| Time | 11:45am - 12:30pm CST |
| Location | Parkside |
Summary
Preimplantation Genetic Testing (PGT) is applicable for almost any genetic disorder in which the genetic cause is characterized, with the number of indications and total number of PGT cases increasing annually. With improved commercially available technologies and standardized practice guidelines, PGT has reached a high level of accuracy, enabling multiple diagnoses from the same sample. PGT indications now include common conditions with genetic predisposition, such as cancer and cardiac disease, and applied prospectively, with introduction of expanded carrier screening (ECS) programs. PGT for monogenic disease is presently combined with testing for chromosomal abnormalities to improve reproductive outcomes. In the future, improvements in noninvasive PGT (niPGT) could herald a new era in which no biopsy is necessary; however, this is not reality at present and needs further research. Rapid uptake of pan-ethnic expanded preconception carrier screening for couples with no family history of a specific genetic disorder will continue to make increase demand for PGT prospectively and will have considerable impact to population control of genetic disorders. Although it is too early to predict advances in genome editing (e.g. CRISPA), this may further shift the focus of PGT-M from selection against an affected embryo to treatment of an affected embryo.
Learning Objectives
- Understand major problems in PGT-Monogenic
- Evaluate the approaches to avoid misdiagnosis
- To describe the next generation technologies for combined testing, including single gene disorders and 24-chromosome imbalances as a possible universal test
- Describe the PGT strategy for de novo mutations detection
- Understand combined PGT-M and PGT-A advantages
Svetlana Rechitsky