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'Designer babies' almost thirty years on
1London Women's ClinicLondon and the School of Biosciences, University of Kent, Canterbury, UK alan.handyside@londonwomensclinic.com.
Summary
Preimplantation genetic testing (PGT) has evolved significantly since its inception in 1990. Modern PGT offers accurate diagnosis for genetic disorders and aneuploidy, remaining a valuable option for at-risk couples.
Area of Science:
- Reproductive Medicine
- Medical Genetics
- Genomics
Background:
- Preimplantation genetic testing (PGT) emerged with in vitro fertilization (IVF) in 1990, initially for X-linked disorders.
- Early PGT focused on sex determination to avoid affected males, leading to 'designer baby' concerns.
- Technological advancements have broadened PGT's scope and accuracy over three decades.
Purpose of the Study:
- To review the evolution of PGT technology.
- To assess the current standing and reputation of PGT.
- To highlight PGT's role in reproductive medicine for genetic risk.
Main Methods:
- Review of historical PGT techniques, including Y-linked repeat amplification for sex determination.
- Discussion of advancements driven by whole genome amplification and the genomic revolution.
- Integration of marker-based monogenic disorder diagnosis and aneuploidy detection.
Main Results:
- PGT technology has advanced from sex selection to comprehensive genetic screening.
- Current PGT methods provide highly accurate universal testing for numerous genetic conditions.
- PGT is now a clinically established procedure.
Conclusions:
- PGT has evolved beyond its initial controversial applications.
- Modern PGT is a sophisticated tool for diagnosing genetic disorders and aneuploidy.
- PGT remains a crucial option for couples at risk of hereditary diseases.