Application Notes: Posters

In order to maximize Illumina sequencing runs, the loading concentration of libraries must be carefully controlled. Both over- and under-loading will decrease the amount of usable reads by limiting the number of sequenceable clusters. One method to accurately load libraries is to use quantification with digital PCR (dPCR). dPCR provides absolute quantification, but like qPCR based methods, can be biased by libraries with extreme size distributions. Both the BioRad QX200 and the Combinati Absolute Q^® were able to quantify multiple sizes of libraries, but encountered issues with an 1000 base pair sized library.

Trisomies are the most common fetal aneuploidies with abnormalities in chromosomes 13 (Patau syndrome T13), 18 (Edwards syndrome T18) or 21 (Down syndrome T21). With the discovery of fetal cell-free DNA (cfDNA) and improvements in modern digital PCR technologies, digital PCR has the potential to become an inexpensive and accurate method for trisomy Non-Invasive Prenatal Testing (NIPT) as the standard of care1-2. In this study, we report the first 4-color multiplexing NIPT trisomy test on a novel digital PCR (dPCR) platform to simultaneously detect chromosomes 13, 18, and 21 while using chromosome 1 as the internal reference control.