Objectives

To systematically review clinical validation studies of MPS technology in prenatal screening for trisomy 21 and to explore the potential implementation strategies in China compared with those in developing countries.

Methods

Searches of the Cochrane Library, Medline, EMBASE, Web of Science, Biosis Previews and three major Chinese databases were performed to identify all the peer-reviewed articles published between January 1st, 2011 and October 15th, 2016. We also reviewed and discussed the potential challenges and risks in the future promotion of MPS technology in China compared with those in developing countries.

Results

The weighted pooled sensitivity and specificity of MPS technology for the prenatal detection of trisomy 21 were 99.7% (95% CI 98.3%-99.9%) and 100.0% (95% CI 99.9%-100.0%), respectively, based on a meta-analysis of 44 included studies. An additional meta-analysis was conducted based on the 25 included studies that were performed in medical/genetic sequencing institutions in mainland China, showing a weighted pooled sensitivity and specificity of MPS technology as 99.5% (95% CI 98.7%-99.8%) and 100% (95% CI 99.9%-100%), respectively.

Conclusion

MPS technology offers effective screening performance for trisomy 21 but should be cautiously promoted due to its clinical limitations and challenges that stem from the ethics and business aspects.