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Preimplantation genetic diagnosis--an overview
Caroline Mackie Ogilvie1, Peter R Braude, Paul N Scriven
1Cytogenetics Department, 5th Floor, Guy's Tower, St Thomas St, London SE1 9RT, UK. caroline.ogilvie@genetics.kcl.ac.uk
Summary
Preimplantation genetic diagnosis (PGD) has evolved significantly since the 1990s, offering advanced testing for genetic disorders and chromosomal abnormalities. This technology now includes aneuploidy screening, aiming to improve in vitro fertilization success rates.
Area of Science:
- Reproductive genetics
- Assisted reproductive technology
Background:
- Preimplantation genetic diagnosis (PGD) has expanded significantly since the early 1990s.
- Applications range from monogenic diseases and X-linked disorders to chromosomal rearrangements.
Purpose of the Study:
- To review the expanding scope and applications of PGD.
- To discuss advancements in PGD methodologies and emerging ethical considerations.
Main Methods:
- Evolution of PGD techniques from polymerase chain reaction and FISH to polar body and blastocyst biopsy.
- Development of PGD for aneuploidy screening (PGD-AS) using FISH probes.
Main Results:
- PGD now routinely screens for monogenic diseases, X-linked disorders, and chromosomal abnormalities.
- PGD-AS aims to improve IVF success by selecting euploid embryos.
- Emerging applications include HLA typing and sex selection, raising ethical debates.
Conclusions:
- PGD technology has advanced considerably, offering diverse diagnostic capabilities.
- The expanding applications of PGD necessitate ongoing ethical discussions and public engagement.