Related Experiment Video
Updated: Apr 10, 2026
09:30
Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
Published on: August 17, 2022
3.7K
Understanding PGT-M: A Guide for Clinicians
Amy Hill1,2, Alice Poulton3,4,5, Tristan Hardy1,2
1Monash IVF Group Genetics, Repromed, Dulwich, Australia.
Seminars in Reproductive Medicine
|April 8, 2026
Summary
Preimplantation genetic testing for monogenic conditions (PGT-M) helps select unaffected embryos, reducing the chance of passing on genetic disorders. This reproductive option allows for biologically related children while minimizing pregnancy termination.
Area of Science:
- Reproductive Medicine
- Medical Genetics
- Embryology
Background:
- Preimplantation genetic testing for monogenic conditions (PGT-M) screens in vitro embryos for specific inherited disorders.
- It offers a reproductive choice for individuals at increased risk of having a child with a monogenic condition.
- PGT-M enables the selection of unaffected embryos, reducing transmission risk and the need for pregnancy termination.
Purpose of the Study:
- To provide a practical overview of PGT-M for clinicians.
- To cover PGT-M's definition, regulations, technical aspects, and clinical application.
- To explore PGT-M's limitations, ethical challenges, and user experiences.
Main Methods:
- Review of existing literature and clinical guidelines on PGT-M.
- Analysis of technical, clinical, practical, and ethical considerations in PGT-M provision.
- Exploration of user experiences and challenges associated with PGT-M.
Main Results:
- PGT-M is a preferred reproductive option for many individuals at risk of monogenic conditions.
- Growing uptake necessitates clinician navigation of complex PGT-M considerations.
- The review synthesizes information on PGT-M's scope, from lab work-up to clinical integration.
Conclusions:
- PGT-M is a valuable tool for preventing the transmission of monogenic conditions.
- Clinicians require comprehensive knowledge to effectively deliver PGT-M care.
- Addressing limitations and ethical aspects is crucial for optimizing PGT-M services.
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