There are two different methods to check prenatal samples (e.g. amniotic fluid) without cell culture for the most relevant trisomies 13, 18 and 21 and for gonosomal aneuploidies. This EQA test checks the technical performance of the interphase-FISH or QF-PCR technique, the evaluation of the data, the reporting and the interpretation of the results in order to simulate a real diagnostic setting. In a second case the formal knowledge is proved (e.g. ISCN nomenclature, interpretation).
Performance interval
Once per year.
Procedure
A methanol-acetic acid fixed cell suspension and/or extracted DNA is sent out together with clinical information about a fictitious pregnant patient. When registration for the EQA test begins, participants are asked to register bindingly; a separate registration is required for each method.
Under normal transport conditions by courier service, aliquoted samples are stable for up to 5 days. Usually the samples are delivered within one or two days.
Method
The interphase FISH or the QF-PCR test should be carried out according to the own laboratory SOP. A diagnostic report has to be written and uploaded which includes the result of the analysis and the interpretation in relation to the diagnostic question. It is possible to upload the lab protocols, too.
The 2nd task is provided with a theoretical task (e.g. ISCN nomenclature).
Criteria
Correct result; interpretation in relation to the clinical indication.
Also: Interpretation of the result in relation to the diagnostic question, recommendation of Genetic counseling, limits of the technique, time to report, ISCN formula.
Certificate
A certificate (valid for two years) will be provided that states whether or not the participation was successful (depending on the correctness of the result).
EQA test supervisor
M Sc Sarah Matos Meder Laboratoriumsmedizin Dres. med. Wisplinghoff Horbeller Str. 18-20 50858 Köln
Dr. rer. med. Marion Krüger Genesupport SA Av. de Sévelin 18 1004 Lausanne, Switzerland
If you would like to contact the EQA test supervisor(s), please call or e-mail the Coordination Office QA of BVDH: