Prior studies from other commercial pcfDNA laboratories have reported a broad range of PPV for the 22q11.2 microdeletion, with several well below 100%.2-6 The proprietary AMPLIFY technology in Prequel increases the relative amount of fetal-derived cfDNA more than two-fold on average and was previously shown to increase analytical performance of 22q11.2 microdeletion screening.7 The current study shows the clinical performance achieved by Prequel with AMPLIFY: among 22 patients who screened positive for 22q11.2 microdeletion and had diagnostic testing results available, all 22 were confirmed as positive (100%; 95% confidence interval: 84.6%-100%).
'With AMPLIFY, we've overcome a major technical limitation of 22q11.2 microdeletion screening and observed a PPV that we believe is among the highest published for a clinically available prenatal cfDNA screening assay,' said
'These results are among the most promising our field has seen for early 22q11.2DS detection. This study enables greater confidence for providers when they receive positive screening results for 22q11.2 microdeletion. Patients can be more effectively guided toward further testing and management options that are best suited for their situation,' said
22q11.2 deletion syndrome (22q11.2DS), often called DiGeorge syndrome, is caused by deletions on chromosome 22 (22q11.2 microdeletions). 22q11.2DS can result in a wide range of health problems, including congenital heart defects and immune-system disorders. Detecting 22q11.2DS during pregnancy allows for better informed pregnancy management, including monitoring that can improve outcomes for newborns.
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
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
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