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Updated: May 20, 2026
07:34
FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Preimplantation genetic diagnosis: recent triumphs and remaining challenges
Sioban B SenGupta1, Joy D A Delhanty
1University College London Centre for Preimplantation Genetic Diagnosis, Institute for Women's Health, University College London, 86-96 Chenies Mews, London, WC1E 6HX, UK. s.sengupta@ucl.ac.uk
Expert Review of Molecular Diagnostics
|August 1, 2012
Summary
Preimplantation genetic diagnosis (PGD) has evolved into a global standard, enabling couples to prevent transmitting genetic diseases. Automation is reducing PGD costs, making it more accessible in routine labs.
Area of Science:
- Reproductive medicine
- Human genetics
- Molecular diagnostics
Background:
- Preimplantation genetic diagnosis (PGD) has transitioned from experimental to a widely adopted clinical procedure over two decades.
- Increased genetic awareness and advancements in identifying mutations/abnormalities empower individuals to assess genetic disease transmission risks before conception.
- Couples seeking to avoid pregnancy terminations due to genetic conditions drive the demand for PGD.
Purpose of the Study:
- To review the evolution and current state of preimplantation genetic diagnosis (PGD).
- To highlight the impact of genetic advancements on reproductive choices.
- To discuss the trend towards automation in PGD and its implications for accessibility and cost.
Main Methods:
- Review of the historical development and current practices of PGD.
- Analysis of the role of genetic testing in reproductive decision-making.
- Examination of technological trends, including automation, in genetic diagnostics.
Main Results:
- PGD is now a specialized diagnostic procedure performed globally.
- Genetic knowledge allows proactive risk assessment for hereditary diseases.
- Automation is emerging as a key trend in PGD, aiming to lower costs and reduce reliance on specialized expertise.
- Automation facilitates the integration of PGD into routine molecular diagnostic laboratories.
Conclusions:
- PGD has become a crucial tool for couples aiming to prevent the transmission of genetic disorders.
- The move towards automation in PGD promises increased efficiency and broader accessibility.
- Future PGD practices are expected to be more integrated into standard molecular diagnostic workflows.
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