Discover the research that drives Counsyl

Counsyl is committed to sharing data and insights with the scientific and medical communities through peer-reviewed publications and conference presentations.


  • Noninvasive Prenatal Screening at Low Fetal Fraction
  • Head-to-head comparison of genome sequencing methods used for noninvasive prenatal screening (NIPS)

Just published in Prenatal Diagnosis, this comprehensive study examines Whole-Genome Sequencing (WGS) and Single-Nucleotide Polymorphism (SNP) methods, the most common genome sequencing methods used for NIPS.

This study concludes that for patients with low fetal fraction:

  • WGS has higher sensitivity and will detect more aneuploidies at low fetal fraction

  • WGS leads to fewer no calls, fewer false negatives, and significantly fewer invasive procedures

Read the full paper in Prenatal Diagnosis

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