Couples undergoing infertility treatments are more aware than ever of preimplantation genetic screening and diagnosis, yet patients and practitioners alike are still struggling with understanding the technologies being used, their capabilities and limitations, and their clinical, legal, and ethical implications. Cambridge Healthtech Institute's Third Annual Reproductive Genetic Diagnostics conference aims to highlight a number of technologies and their differences, as well as how effective they are at uncovering a variety of genetic abnormalities. Considerations for mosaic embryos, biopsy techniques, and genetic counseling will also be discussed. Special attention will be paid to expanded carrier screening, its role in the direct-to-consumer market, and the potential for other molecular tests for infertility and implantation failure. Future directions for the role of gene editing and non-invasive embryo diagnostics will also be discussed.
Topics may include, but are not limited to:
Advances in PGS and PGD technology
- Advances in NGS and digital PCR
- Comparison of platforms
- Debate: Is PGS truly useful?
Considerations for mosaicism and genetic abnormalities
- The implications of mosaicism - what does the technology tell us and how do we counsel patients?
- Biopsy techniques - how does this affect results?
- Considerations for segmental aneuploidy, de novo mutations, and microduplications/deletions
- Medical, legal, and clinical implications
- Expanded carrier screening
- The role of clinical vs. direct to consumer screening
Diagnostics for infertility and implantation failure
- Biomarkers for infertility, endometrial receptivity, and more
- mtDNA - does it have clinical value?
Future directions and challenges
- Non-invasive embryo diagnostics
- Gene editing and its role in PGD