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Zandra C. Deans Anil Biricik Martine De Rycke Gary L. Harton Miroslav Hornak Farrah Khawaja Céline Moutou Jan Traeger-Synodinos Pamela Renwick 《黑龙江环境通报》2023,43(4):506-515
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. 相似文献604.
Anne Bado-Nilles Stéphane Betoulle Alain Geffard Jean-Marc Porcher Béatrice Gagnaire Wilfried Sanchez 《Environmental science and pollution research international》2013,20(5):2692-2704
The neutral red retention assay has been proposed to determine the lysosomal membrane stability in immune cells. Nevertheless, this assay implies many examinations under a microscope at short time intervals and therefore the analysis of few samples. The present study proposes two more rapid, efficient, and sensitive sample analyses using flow cytometry method. Lysosomal presence and lysosomal membrane integrity (LMI) were evaluated on the three-spined stickleback, Gasterosteus aculeatus (L.), a well-described model fish species for aquatic ecotoxicology studies. After development of the two biomarkers, they were validated by ex vivo contamination with endosulfan and copper and by in situ sampling. These immunomarkers were clearly modulated by pollutants and their variations seemed to be correlated with leucocyte mortality. Thus, from a practical point of view, lysosomal presence and LMI may provide novel and efficient means of evaluating immune capacities and indicating the toxic effects of environmental pollution. 相似文献
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Joke Muys Yves Jacquemyn Bettina Blaumeiser Laura Bourlard Nathalie Brison Saskia Bulk Patrizia Chiarappa Anne De Leener Marjan De Rademaeker Julie Désir Anne Destrée Koenraad Devriendt Annelies Dheedene Armelle Duquenne Annelies Fieuw Erik Fransen Jean-Stéphane Gatot Mauricette Jamar Sandra Janssens Jorien Kerstjens Kathelijn Keymolen Damien Lederer Björn Menten Bruno Pichon Sonia Rombout Yves Sznajer Ann Van Den Bogaert Kris Van Den Bogaert Joris Vermeesch Katrien Janssens 《黑龙江环境通报》2020,40(10):1272-1283
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