Novel cell-free DNA testing
for monogenic disease

Zoom in from full chromosome to single nucleotide with a new application for cell-free DNA (cfDNA) technology. Expand your patients’ prenatal options with the Resura® Prenatal Test.

Current practice for diagnosing a fetus at-risk of an inherited disease involves undergoing invasive procedures. We are bringing inherited diseases into the era of noninvasive prenatal testing with Resura.

This new test was developed using a droplet digital PCR system and tested on a population of healthy and at-risk pregnancies.

What did we find?

  • The platform had >99.9% sensitivity and specificity, and a 92.9% reportable rate.1
  • In all at-risk pregnancies where the neonate outcome was available, our results were concordant.1
This test provides families with fast and accurate information about the status of a monogenic disease during pregnancy.
A detailed summary of our validation results. Download the data summary sheet
This research was presented at the 2018 National Society of Genetic Counselors (NSGC) Annual Conference. Download the poster

References

  1. Zdrodowski et al. Customizable Non-Invasive Prenatal Testing for Single Gene Disorders using cell free DNA. Poster presented at National Society of Genetic Counselors Annual Conference, 2018.