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

SALT LAKE CITY, April 16, 2024 (GLOBE NEWSWIRE) -- Myriad Genetics, Inc., (NASDAQ: MYGN), a leader in genetic testing and precision medicine, today announced that Prenatal Diagnosis has published a study1 demonstrating exceptional positive predictive value (PPV) for 22q11.2 microdeletion screening using Myriad’s prenatal cell-free DNA (pcfDNA) screen, Prequel®, which incorporates fetal fraction amplification.

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 Dale Muzzey, PhD, Chief Scientific Officer, Myriad Genetics. “This is now the second publication—one from Myriad and another from a separate laboratory5—showing exemplary PPV for whole-genome-sequencing-based pcfDNA screening. Notably, the PPV levels are considerably higher than what has been reported for SNP-based pcfDNA screening, where approximately half of reported positives were false positives.”6

“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 James Goldberg, MD, FACOG, FACMG.

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. The American College of Medical Genetics and Genomics recently recommended that 22q11.2DS screening be offered to all pregnant patients.

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   

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.


1Hammer C, Pierson S, Acevedo A, Goldberg J, Westover T, Chawla D, Mabey B, Muzzey D, Johansen Taber K. High positive predictive value 22q11.2 microdeletion screening by prenatal cell-free DNA testing that incorportates fetal fraction amplification. Prenat Diagn. Epub 2024. doi: 10.1002/pd.6562.

2Gross SJ, Stosic M, McDonald-McGinn DM, Bassett AS, Norvez A, Dhamankar R, Kobara K, Kirkizlar E, Zimmermann B, Wayham N, Babiarz JE, Ryan A, Jinnett KN, Demko Z, Benn P. Clinical experience with single-nucleotide polymorphism-based non-invasive prenatal screening for 22q11.2 deletion syndrome. Ultrasound Obstet Gynecol. 2016 Feb;47(2):177-83. doi: 10.1002/uog.15754. Epub 2016 Jan 5. PMID: 26396068; PMCID: PMC5064640.

3Martin K, Iyengar S, Kalyan A, Lan C, Simon AL, Stosic M, Kobara K, Ravi H, Truong T, Ryan A, Demko ZP, Benn P. Clinical experience with a single-nucleotide polymorphism-based non-invasive prenatal test for five clinically significant microdeletions. Clin Genet. 2018 Feb;93(2):293-300. doi: 10.1111/cge.13098. Epub 2017 Nov 17. PMID: 28696552.

4Helgeson J, Wardrop J, Boomer T, Almasri E, Paxton WB, Saldivar JS, Dharajiya N, Monroe TJ, Farkas DH, Grosu DS, McCullough RM. Clinical outcome of subchromosomal events detected by whole-genome noninvasive prenatal testing. Prenat Diagn. 2015 Oct;35(10):999-1004. doi: 10.1002/pd.4640. Epub 2015 Jul 27. PMID: 26088833; PMCID: PMC5034801.

5Soster E, Dyr B, Rafalko J, Almasri E, Cacheris P. Positive cfDNA screening results for 22q11.2 deletion syndrome-Clinical and laboratory considerations. Front Genet. 2023 Mar 10;14:1146669. doi: 10.3389/fgene.2023.1146669. PMID: 36968594; PMCID: PMC10036386.

6Dar P, Jacobsson B, Clifton R, Egbert M, Malone F, Wapner RJ, Roman AS, Khalil A, Faro R, Madankumar R, Edwards L, Strong N, Haeri S, Silver R, Vohra N, Hyett J, Demko Z, Martin K, Rabinowitz M, Flood K, Carlsson Y, Doulaveris G, Daly S, Hallingström M, MacPherson C, Kao C, Hakonarson H, Norton ME. Cell-free DNA screening for prenatal detection of 22q11.2 deletion syndrome. Am J Obstet Gynecol. 2022 Jul;227(1):79.e1-79.e11. doi: 10.1016/j.ajog.2022.01.002. Epub 2022 Jan 13. PMID: 35033576.

7Welker NC, Lee AK, Kjolby RAS, Wan HY, Theilmann MR, Jeon D, Goldberg JD, Haas KR, Muzzey D, Chu CS. High-throughput fetal fraction amplification increases analytical performance of noninvasive prenatal screening. Genet Med. 2021 Mar;23(3):443-450. doi: 10.1038/s41436-020-01009-5. Epub 2020 Nov 15. PMID: 33190143; PMCID: PMC7935715.

8Artieri, C. G., Haverty, C., Evans, E. A., Goldberg, J. D., Haque, I. S., Yaron, Y., and Muzzey, D. (2017) Noninvasive prenatal screening at low fetal fraction: comparing whole-genome sequencing and single-nucleotide polymorphism methods. Prenat Diagn, 37: 482–490. doi: 10.1002/pd.5036.

9Hancock S, Ben-Shachar R, Adusei C, Oyolu CB, Evans EA, Kang HP, Haverty C, Muzzey D. Clinical experience across the fetal-fraction spectrum of a non-invasive prenatal screening approach with low test-failure rate. Ultrasound Obstet Gynecol. 2020 Sep;56(3):422-430. doi: 10.1002/uog.21904. PMID: 31671482; PMCID: PMC7496885.

10Muzzey D, Goldberg JD, Haverty C. Noninvasive prenatal screening for patients with high body mass index: Evaluating the impact of a customized whole genome sequencing workflow on sensitivity and residual risk. Prenat Diagn. 2020 Feb;40(3):333-341. doi: 10.1002/pd.5603. Epub 2019 Dec 20. PMID: 31697845; PMCID: PMC7065115.

11Kaseniit KE, Hogan GJ, D’Auria KM, Haverty C, Muzzey D. Strategies to minimize false positives and interpret novel microdeletions based on maternal copy-number variants in 87,000 noninvasive prenatal screens. BMC Med Genomics. 2018 Oct 19;11(1):90. Doi: 10.1186/s12920-018-0410-6. PMID: 30340588; PMCID: PMC6194617.

12Arjunan A, Ben-Shachar R, Kostialik J, Johansen Taber K, Lazarin GA, Denne E, Muzzey D, Haverty C. Technology-Driven Noninvasive Prenatal Screening Results Disclosure and Management. Telemed J E Health. 2020 Jan;26(1):8-17. doi: 10.1089/tmj.2018.0253. Epub 2019 Feb 26. PMID: 30807262; PMCID: PMC6948005.

13Putra M, Kaseniit KE, Hicks MA, Muzzey D, Hackney D. The impact of HBB-related hemoglobinopathies carrier status on fetal fraction in noninvasive prenatal screening. Prenat Diagn. 2022 Apr;42(4):524-529. doi: 10.1002/pd.6127. Epub 2022 Mar 23. PMID: 35224763; PMCID: PMC9311838.

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