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Prenat Diagn. 2019 Feb 14. doi: 10.1002/pd.5438. [Epub ahead of print]

Ensuring high standards for the delivery of NIPT world-wide: Development of an international external quality assessment scheme.

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UK NEQAS for Molecular Genetics/GenQA, Department of Laboratory Medicine, Royal Infirmary of Edinburgh, Edinburgh, UK.
West Midlands Regional Genetics Laboratory, Birmingham Women's NHS Foundation Trust, Birmingham, UK.
Great Ormond Street Hospital, North East Thames Regional Genetics Laboratory, London, UK.
EMQN, Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
UCL Great Ormond Street Institute of Child Health and Great Ormond Street NHS Foundation Trust, London, UK.
CEQAS/GenQA, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.



To ensure accurate and appropriate reporting of non-invasive prenatal testing (NIPT) results, the standard of testing should be measured and monitored by participation in external quality assessment (EQA) schemes. The findings from international pilot EQAs for NIPT for the common trisomies are presented.


In the first pilot, three EQA providers used artificially manufactured reference materials to deliver an EQA for NIPT. The second pilot used clinically collected maternal plasma samples. The testing and reporting for aneuploidy status was performed by participating laboratories using routine procedures. Reports were assessed against peer ratified criteria and EQA scores were returned to participants.


Forty laboratories participated in the first. Genotyping accuracy was high; four laboratories reported a critical genotyping error (10%) and two reported partial results. Eighty seven laboratories participated in the second pilot using maternal plasma, two reporting a critical genotyping error (2.3%). For both rounds, report content was variable with key information frequently omitted or difficult to identify within the report.


We have successfully delivered an international pilot EQA for NIPT. When compared with currently available manufactured materials, EQA for NIPT was best performed using clinically collected maternal plasma. Work is required to define and improve the standard of reporting.


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