Multiplexed Digital PCR for Non-Invasive Prenatal Trisomy Screening


Aneuploidy is a genetic condition in which a person has missing or extra copies of chromosomes. The most common fetal aneuploidies are trisomies in which one chromosome has an additional copy. Of these, Patau syndrome (trisomy 13), Edwards syndrome (trisomy 18) and Down syndrome (trisomy 21) are the 3 most common types. While the discovery of fetal cell-free DNA (cfDNA) has enabled early detection of trisomies by looking for discrepancies in the mother’s blood, high costs have limited the availability of trisomy screening.

With recent improvements, digital PCR has the potential to become the standard of care for trisomy NIPT by providing accurate quantification, fast turnaround time and lower cost. In this study, we demonstrate the performance of a novel 4-color multiplexing NIPT trisomy test on the Absolute Q dPCR platform to simultaneously detect T13, T18 and T21.

Workflow features enable higher accuracy and sensitivity:

  • High partitioning consistency and low dead volume maximizes sample utilization
  • Digital pooling enables larger volumes of cfDNA to be analyzed across more partitions
  • 4 colors enables multi-target screening in a single reaction
Non-Invasive Prenatal Trisomy Screening
Figure 1. A simple workflow for the 4-color Atila NIPT assay testing on Combinati Absolute Q dPCR System with integrated digital PCR and data analysis.

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