ESHRE PGD consortium best practice guidelines for amplification-based PGD

Area of Science:

• Reproductive Medicine
• Clinical Genetics
• Molecular Diagnostics

Background:

• The European Society for Human Reproduction and Embryology (ESHRE) PGD Consortium previously issued guidelines in 2005.
• Advancements in technology and updated ESHRE recommendations necessitated a revision of PGD best practices.
• The updated guidelines are now presented in four separate documents, focusing on different aspects of PGD programs.

Purpose of the Study:

• To revise and update the sections of the ESHRE PGD guidelines specifically addressing amplification-based testing.
• To provide current best practices for amplification-based preimplantation genetic diagnosis (PGD).
• To ensure consistency and quality in PGD programs utilizing amplification-based methods.

Main Methods:

• The guideline focuses on amplification-based testing for PGD.
• It details inclusion/exclusion criteria for testing, preclinical validation processes, and specific amplification-based testing methodologies.
• Guidance is also provided on cell handling, setting up local and transport PGD centers, and quality assurance.

Main Results:

• The updated guideline offers a detailed framework for amplification-based PGD.
• It addresses critical aspects from test development and validation to implementation and quality control.
• The document ensures comprehensive coverage of amplification-based PGD techniques.

Conclusions:

• This updated guideline provides essential information for amplification-based PGD programs.
• It aims to standardize and improve the quality of genetic testing in PGD.
• Adherence to these guidelines will enhance the reliability of PGD services.