Cutting-edge technology
The approach to wide genetic testing with rare aneuploidies and microdeletions yielded a high sensitivity of 96.4% and a specificity of 99.8% for rare aneuploidies and a sensitivity of 74.1% and a specificity of 99.8% for microdeletions greater than 7 MB.
The Veriseq NIPT solution Illumina uses wide genome sequencing to provide a comprehensive insight into the genetic material. This provides a lot of information about the entire genome, effectively removing the interference introduced by molecular techniques such as PCR. Targeted sequencing and plate-based methods tend to have longer laboratory protocols and employ more rounds of PCR than genome-wide methods, introducing potential sources of error and increasing interference. This lack of coverage can be further increased when working with more challenging samples such as those with lower percentages of fetal fractions. In these cases, the information does not differ sufficiently for the test to provide a reliable result on one side or the other (aneuploidy or disomy).