Cutting-Edge Technology
The approach to extensive genetic testing with rare aneuploidies and microdeletions yielded a high sensitivity of 96.4% and a speci city of 99.8% for rare aneuploidies and a sensitivity of 74.1% and a speci city of 99.8% for microdeletions greater than 7 MB.
The Illumina Veriseq NIPT Solution uses extended genome sequencing to provide a comprehensive view of the genetic material. This provides a wealth of information across the entire genome, effectively removing interference introduced by molecular techniques such as PCR. Targeted sequencing and plate-based methods tend to have longer laboratory protocols and employ more PCR cycles than genomic 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 enough for the test to provide a reliable result on one side or the other (aneuploidy or disomy).