Evaluation laboratory prenatal screening performance based on biological variation of risk assessment in second trimester in China

Abstract Objectives This study intends to evaluate prenatal screening risk assessment performance based on biological variation to help clinical laboratories realize their own screening performance and set the appropriate performance specifications for prenatal screening risk assessment in China. Methods Fifteen samples with detailed clinical information were distributed to participants and the prenatal screening Down syndrome risk assessment of each sample were submitted. Three levels of performance specification (optimum, desirable, minimum) derived from biological variation were used to evaluate laboratory prenatal screening risk assessment performance. Results A total of 797 laboratories participated in the survey project. There are 216 laboratories using serological double-marker test and 581 laboratories using serological triple-marker test. For each screening protocol, more than 92.00% laboratories meet minimum performance specifications, more than 84.00% laboratories meet desirable performance specifications, and only about 62.50%laboratories meet optimum performance specifications. The Feltz and Miller test indicated that there were no significant statistical differences in the RCV for double-marker screening in 5 platforms and triple-marker screening in 6 platforms. Conclusions The risk assessment of prenatal screening in the second trimester in China can be improved further. It is appropriate to choose desirable performance specifications for external quality assurance organizations to evaluate the risk assessment performance.