Clinical Data
A total of 223 samples were tested in the clinical validation of non-invasive prenatal screening testing for several single-gene conditions. The sensitivity and specificity of the test were both more than 99%
In clinical trials conducted in cooperation with Women’s Hospital School of Medicine Zhejiang University, two fetuses were found to harbor de novo mutations associated with dominant single-gene conditions, all of which were confirmed by Sanger sequencing in prenatal diagnosis, the consistent rate was 100%.