New Myriad Genetics Study Published in Prenatal Diagnosis Shows High Positive Predictive Value for 22q11.2 Microdeletion Syndrome Using Prequel Prenatal Screen - Seite 2

About Prequel
Myriad’s Prequel Prenatal Screen with AMPLIFY technology provides pregnant patients with genetic insights into fetal development and the health of the pregnancy as early as ten weeks. The prenatal cfDNA screen can assess if a pregnancy is at an increased risk for several chromosomal conditions like Down, Edwards, or Patau syndrome, sex chromosome abnormalities, expanded aneuploidies, and select microdeletions including 22q11.2. Prequel is a whole-genome sequencing (WGS) based screening test that has been described in eightications, including the study noted here.^1,7-13  

About the study
This study analyzed the PPV of the 22q11.2 microdeletion detection using non-invasive prenatal cfDNA screening that incorporates fetal-fraction amplification. For patients who screened positive for 22q11.2 microdeletion, pregnancy outcome data, including ultrasound findings and diagnostic testing results, were assessed. Screen-positive calls were considered true positive when 22q11.2 microdeletion was subsequently confirmed by prenatal or postnatal diagnostic testing.

About Myriad Genetics 
Myriad Genetics is a leading genetic testing and precision medicine company dedicated to advancing health and well-being for all. Myriad develops and offers genetic tests that help assess the risk of developing disease or disease progression and guide treatment decisions across medical specialties where genetic insights can significantly improve patient care and lower healthcare costs. For more information, visit www.myriad.com.   

Safe Harbor Statement

This press release contains “forward-looking statements” within the meaning of the Private Securities Litigation Reform Act of 1995, including that this study enables greater confidence for providers when they receive positive screening results for 22q11.2 microdeletion and patients can be more effectively guided toward further testing and management options that are best suited for their situation. These “forward-looking statements” are management’s expectations of future events as of the date hereof and are subject to known and unknown risks and uncertainties that could cause actual results, conditions, and events to differ materially and adversely from those anticipated. Such factors include those risks described in the company’s filings with the U.S. Securities and Exchange Commission, including the company’s Annual Report on Form 10-K filed on February 28, 2024, as well as any updates to those risk factors filed from time to time in the company’s Quarterly Reports on Form 10-Q or Current Reports on Form 8-K. Myriad is not under any obligation, and it expressly disclaims any obligation, to update or alter any forward-looking statements, whether as a result of new information, future events or otherwise except as required by law.