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The experience of 3 years of external quality assessment of preimplantation genetic diagnosis for cystic fibrosis.
MedLine Citation:
PMID:  23150080     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
Preimplantation genetic diagnosis (PGD) was first performed over 20 years ago and has become an accepted part of genetic testing and assisted reproduction worldwide. The techniques and protocols necessary to carry out genetic testing at the single-cell level can be difficult to master and have been developed independently by the laboratories worldwide offering preimplantation testing. These factors indicated the need for an external quality assessment (EQA) scheme for monogenic disease PGD. Toward this end, the European Society for Human Reproduction and Embryology came together with United Kingdom National External Quality Assessment Services for Molecular Genetics, to create a pilot EQA scheme followed by practical EQA schemes for all interested parties. Here, we detail the development of the pilot scheme as well as development and findings from the practical (clinical) schemes that have followed. Results were generally acceptable and there was marked improvement in results and laboratory scores for those labs that participated in multiple schemes. Data from the first three schemes indicate that the EQA scheme is working as planned and has helped laboratories improve their techniques and result reporting. The EQA scheme for monogenic PGD will continue to be developed to offer assessment for other monogenic disorders.European Journal of Human Genetics advance online publication, 14 November 2012; doi:10.1038/ejhg.2012.244.
Authors:
Zandra Deans; Francesco Fiorentino; Anil Biricik; Joanne Traeger-Synodinos; Céline Moutou; Martine De Rycke; Pamela Renwick; Sioban Sengupta; Veerle Goossens; Gary Harton
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-11-14
Journal Detail:
Title:  European journal of human genetics : EJHG     Volume:  -     ISSN:  1476-5438     ISO Abbreviation:  Eur. J. Hum. Genet.     Publication Date:  2012 Nov 
Date Detail:
Created Date:  2012-11-14     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9302235     Medline TA:  Eur J Hum Genet     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Affiliation:
Department of Laboratory Medicine, UK NEQAS for Molecular Genetics, UK NEQAS Edinburgh, The Royal Infirmary of Edinburgh, Edinburgh, UK.
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