OBJECTIVE: Genomics Quality Assessment has provided external quality assessments (EQAs) for preimplantation genetic testing (PGT) for 12 years for eight monogenic diseases to identify sub-optimal PGT strategies, testing and reporting of results, which can be shared with the genomics community to aid optimised standards of PGT services for couples. METHOD: The EQAs were provided in two stages to mimic end-to-end protocols. Stage 1 involved DNA feasibility testing of a couple undergoing PGT and affected proband. Participants were required to report genotyping results and outline their embryo testing strategy. Lymphoblasts were distributed for mock embryo testing for stage 2. Submitted clinical reports and haplotyping results were assessed against peer-ratified criteria. Performance was monitored to identify poor performance. RESULTS: The most common testing methodology was short tandem repeat linkage analysis (59%); however, the adoption of single nucleotide polymorphism-based platforms was observed and a move from blastomere to trophectoderm testing. There was a variation in testing strategies, assigning marker informativity and understanding test limitations, some clinically unsafe. Critical errors were reported for genotyping and interpretation. CONCLUSION: EQA provides an overview of the standard of preimplantation genetic testing-M clinical testing and identifies areas of improvement for accurate detection of high-risk embryos.

BioSkryb Genomics Durham North Carolina USA

Centre for Medical Genetics Universitair Ziekenhuis Brussel Brussels Belgium

Centre for Preimplantation Genetic Diagnosis Guys Hospital Guys and St Thomas' NHS Foundation London UK

Eurofins Genoma Laboratories Rome Italy

GenQA Department of Laboratory Medicine Royal Infirmary of Edinburgh NHS Lothian Edinburgh UK

Laboratoire de Diagnostic préimplantatoire Hôpitaux Universitaires de Strasbourg Université de Strasbourg Strasbourg France

Laboratory for Medical and Reproductive Genetics REPROMEDA Biology Park Brno Czechia USA

Laboratory of Medical Genetics St Sophia's Children's Hospital National and Kapodistrian University of Athens Athens Greece

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