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.
