Best Practices for Integrating Cell-Free DNA-Based NIPT Into Clinical Practice

Abstract External Quality Assessment (EQA) is recognized by international standards (ISO), and EQA performance is used by accreditation bodies as a tangible measure of the quality of a laboratory's performance. EQA allows an independent appraisal of the laboratory's results and a comparison of these to validated results and performance criteria. The aim of EQA is to be educational and to improve quality of care where a laboratory is failing to meet the required standard. EQA is also an external verification of quality of service and gives confidence to the laboratory director and host institution that the laboratory's performance is satisfactory. Cell-free DNA-based noninvasive prenatal testing (cfDNA NIPT) for aneuploidy is an effective prenatal screening test for the common trisomies (chromosomes 13, 18, and 21). A survey of current practice, including reporting for cfDNA-based NIPT and noninvasive prenatal diagnosis, was undertaken in order to provide an overview of the needs and approaches employed by laboratories across the globe and to develop a plan for the pilot EQA(s) to meet the needs of participants. This survey enabled the EQA providers to implement and provide a cfDNA test pilot EQA program to participants. Initially, artificial samples were sent out but due to the limitations of this material, subsequent EQA rounds have used patient material. This chapter discusses the outcome of the survey and the initial EQA distributions.