4-color Multiplexing Digital PCR Assay for Non-Invasive Prenatal Trisomy (NIPT) Testing Using a Novel Digital PCR Platform

AACC Poster: 4-color Multiplexing Digital PCR Assay for Non-Invasive Prenatal Trisomy (NIPT) Testing Using a Novel Digital PCR Platform

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.

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