Workpackage 10 Pre-implantation genetic diagnosis and gamete testing (PGD&PGS)

This WP deals with different aspects of pre-implantation genetic diagnosis and gamete testing, including molecular and cytogenetic PGD, polar body testing and sperm-typing.

WP10 will organize three expert meetings in order to define current state of the art and upcoming developments and also to identify active labs in Europe and Developing Countries offering PGD and propose to list them in an Orphanet database section. Another aim is to prepare consensus flowcharts, protocols and guidelines which are the most relevant for each disorder. The work will cover molecular procedures, and FISH or array approaches for structural chromosome abnormalities. The evaluation of aneuploidy screening is out of the scope of the work package, but is included as a topic in terms of policy and clinical utility (see WP 13).

ESHRE established a PGD Consortium in 1997 and collaboration with this Consortium is essential. Existing guidelines published by PGDIS (Pre-implantation Genetic Diagnosis International Society) or by ESHRE (European Society of Human Reproduction) are general recommendations on genetic practices and reproductive medicine (indications, set-up of PGD programmes, patient management, description of procedures for embryo biopsy, PCR or FISH). A recent survey (Corveleyn et al. 2008) emphasized the lack of existing PGD-specific schemes and the need for improvement in quality assurance in PGD centres (a significant proportion of centres do not even keep data on accuracy or do not even follow-up until birth). An expert meeting could define the basis of an international harmonization of technological protocols - at least for disorders which are the most commonly indicated for PGD (for example, it is estimated that, for monogenic PGD, only 2/3 of laboratories perform both direct and indirect diagnosis) – and define guidelines for interpretation and reporting of the results. FISH EQA for PGD has been established with CEQA (pilot run in 2008, and EQA in 2009) and it is planned to expand the repertoire of EQAs offered e.g. polar body FISH and arrays.  Molecular EQA for PGD has been established with UKNEQAS (pilot in 2008 and 2009).

WP10 will be tightly related with WP9 for prospective aspects of technological developments that could be beneficial at the single-cell level and could necessitate translational research projects.


WPLeader: Mireille Claustres

Participant: Joyce Harper



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