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.


This research was presented at the 2018 National Society of Genetic Counselors (NSGC) Annual Conference.

Download the poster.


  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.