Ensuring high standards for the delivery of NIPT world‐wide: Development of an international external quality assessment scheme. (12th March 2019)

• Record Type: Journal Article
• Authors: Deans, Zandra C.; Allen, Stephanie; Jenkins, Lucy; Khawaja, Farrah; Gutowska‐Ding, Weronika; Patton, Simon J.; Chitty, Lyn S.; Hastings, Ros J.
• Is Part Of: Prenatal diagnosis. Volume 39:Number 5(2019)
• Page Start: 379
• Page End: 387
• Publication Date: 2019-03-12
• Subjects: Prenatal diagnosis -- Periodicals; Fetus -- Diseases -- Diagnosis -- Periodicals; Electronic journals; 618.32075
• DOI: 10.1002/pd.5438
• Languages: English
• ISSNs: 0197-3851

Abstract

Abstract: Objective: 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. Methods: 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. Results: 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. Conclusions: 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. Abstract : What is already known about this topic? To ensure laboratories deliver accurate, appropriate, and effective reporting of tests performed in their laboratories participation in external quality assessment (EQA) schemes is required by accrediting bodies. There is no international EQA scheme available for NIPT for aneuploidy. What does this study add? EQA for the common trisomies can be successfully delivered across multiple laboratories worldwide. The EQA is best delivered using clinically collected maternal plasma samples which can be transported at room temperature. Reporting standards are very variable with key information often omitted. Further work is required to develop internationally acceptable EQA for NIPT aneuploidy including reporting standards. The high level of participation in these pilots suggests the need for continued delivery of EQA.