Document Detail


The experience of 3 years of external quality assessment of preimplantation genetic diagnosis for cystic fibrosis.
MedLine Citation:
PMID:  23150080     Owner:  NLM     Status:  MEDLINE    
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.
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; Research Support, Non-U.S. Gov't     Date:  2012-11-14
Journal Detail:
Title:  European journal of human genetics : EJHG     Volume:  21     ISSN:  1476-5438     ISO Abbreviation:  Eur. J. Hum. Genet.     Publication Date:  2013 Aug 
Date Detail:
Created Date:  2013-07-18     Completed Date:  2013-10-29     Revised Date:  2014-08-05    
Medline Journal Info:
Nlm Unique ID:  9302235     Medline TA:  Eur J Hum Genet     Country:  England    
Other Details:
Languages:  eng     Pagination:  800-6     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Cystic Fibrosis / diagnosis*,  genetics*
Female
Humans
Laboratories / standards
Pilot Projects
Pregnancy
Preimplantation Diagnosis / methods*,  standards
Quality Assurance, Health Care / methods*,  standards,  trends
Quality Control
Reproducibility of Results
Sensitivity and Specificity
Time Factors
Comments/Corrections

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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