Canadian women now have access to an approved non-invasive prenatal test

LAVAL, QC, Nov. 7, 2019 /CNW Telbec/ - Pregnant women can rely on the HARMONY test, the first non‑invasive prenatal test approved by Health Canada.

As early as the 10th week of pregnancy, the HARMONY test can analyze fetal cell-free DNA in a sample of the mother's blood and determine the probability of trisomy 21 (Down syndrome) and other common fetal aneuploidies.

The HARMONY test is the only test of its kind to be recognized by Health Canada as meeting its requirements of safety, effectiveness and quality. The HARMONY test is also CE-marked in Europe.

"With this first Health Canada license* granted for a non-invasive prenatal test, Roche is setting a new standard. Pregnant women and health care professionals can now rely on the only test having met the Medical Devices Bureau of Health Canada's rigorous requirements. This is an important recognition about the HARMONY test's consistent technical and clinical performance,'' says Tonino Antonetti, Executive Director, Regulatory Affairs & Quality Management, at Roche Diagnostics, Division of Hoffmann-La Roche Limited, in Canada.

With over 59 peer-reviewed publications, Harmony is the most proven non-invasive prenatal test. In clinical studies, it has been shown that Harmony can detect > 99% of trisomy 21 cases, 97.4% of trisomy 18 cases and 93.8% of trisomy 13 cases, with a false positive rate of less than 0.1%.i This non-invasive prenatal test is available in more than 100 countries worldwide to pregnant women of ages 18 years and older.

In the clinical practice guideline published in September 2017, the Society of Obstetricians and Gynaecologists of Canada (SOGC) and the Canadian College of Medical Geneticists (CCMG) recommend that ''all pregnant women in Canada, regardless of age, should be offered, through an informed counselling process, the option of a prenatal screening test for the most common fetal aneuploidies''. ii

Non-invasive prenatal screening tests are currently reimbursed under certain conditions in Ontario (since 2015), British Columbia (since 2016) and Yukon (since 2017). In April 2018, the Quebec Government announced that it would, in the year to come, move forward with public funding for such a test in high-risk pregnancies.

The Harmony non-invasive prenatal test is validated for pregnant women of 18 years and older with more than 1.4 million tests performed worldwide. Over 218,000 samples have been included in 59 peer-reviewed publications regarding the Harmony test iii, including the landmark NEXT study iv published in The New England Journal of Medicine. These studies show that the Harmony test was statistically superior to the existing first-trimester screening practice for the detection of trisomy 21.

The Harmony non-invasive prenatal test is based on cell-free DNA and is considered a prenatal screening test, not a diagnostic test. Harmony does not screen for potential chromosomal or genetic conditions other than those expressly identified in this document. All women should discuss their results with their healthcare provider who can recommend confirmatory, diagnostic testing where appropriate.

Roche is a global pioneer in pharmaceuticals and diagnostics focused on advancing science to improve people's lives. The combined strengths of pharmaceuticals and diagnostics under one roof have made Roche the leader in personalised healthcare – a strategy that aims to fit the right treatment to each patient in the best way possible.

Roche is the world's largest biotech company, with truly differentiated medicines in oncology, immunology, infectious diseases, ophthalmology and diseases of the central nervous system. Roche is also the world leader in in vitro diagnostics and tissue-based cancer diagnostics, and a frontrunner in diabetes management.

Founded in 1896, Roche continues to search for better ways to prevent, diagnose and treat diseases and make a sustainable contribution to society. The company also aims to improve patient access to medical innovations by working with all relevant stakeholders. More than thirty medicines developed by Roche are included in the World Health Organization Model Lists of Essential Medicines, among them life-saving antibiotics, antimalarials and cancer medicines. Moreover, for the eleventh consecutive year, Roche has been recognised as one of the most sustainable companies in the Pharmaceuticals Industry by the Dow Jones Sustainability Indices (DJSI).

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©2019 Roche Diagnostics, Inc. All Rights Reserved.

® HARMONY is a trademark of Roche. All other product names and trademarks are the property of their respective owners.

Non-Invasive Prenatal Testing (NIPT) based on fetal cell-free DNA analysis is not a diagnostic test. No irrevocable obstetrical decision should be made on a positive result generated from a Non-Invasive Prenatal Testing (NIPT) based on fetal cell-free DNA analysis, without confirmation by other invasive diagnostic testing.

* Health Canada Class III license.


i Stokowski et al. Prenat Diagn. 2015 Oct; DOI: 10.1002/pd.4686.

ii Audibert F et al. J J Obstet Gynaecol Can. 2017 Sep;39(9):805-817. doi: 10.1016/j.jogc.2017.01.032.

iii List of 59 peer-reviewed publications regarding the Harmony test and reference IV below :

  1. Ashoor G et al. Fetal Diagn Ther. 2012;31(4):237-43.

  2. Ashoor G et al. Am J Obstet Gynecol. 2012;206(4):322.e1-5.

  3. Nicolaides KH et al. Am J Obstet Gynecol. 2012;207(5):374 e1-6.

  4. Norton ME et al. Am J Obstet Gynecol. 2012;207(2):137.e1--8.

  5. Sparks et al. Am J Obstet Gynecol. 2012;206(4):319e1-9.

  6. Sparks et al. Prenat Diagn. 2012;32(1):3-9.

  7. Ashoor G et al. Ultrasound Obstet Gynecol. 2013;41(1):21-25.

  8. Ashoor et al. Ultrasound Obstet Gynecol. 2013;41(1):26-32.

  9. Brar et al. J Matern Fetal Neonatal Med. 2013;26(2)-143-45.

  10. Fairbrother et al. Prenat Diagn. 2013: March 1-5.

  11. Gil MM et al. Ultrasound Obstet Gynecol. 2013;42(1):34-40.

  12. Verweij et al. Prenat Diagn. 2013;33(10):996-1001.

  13. Wang et al. Prenat Diagn. 2013;33(7):662-6.

  14. Song et al J Matern Fet Neonatal Med 2013 Aug 26(12)

  15. Gil MM et al. Fetal Diagn Ther. 2014;35(3):204-211.

  16. Feenstra et al. Prenat Diagn. 2014;34(2):195-8.

  17. Juneau et al. Fetal Diagn Ther. 2014;36(4):282-6.

  18. Hooks et al. Prenat Diagn. 2014;34(5):496-499.

  19. Nicolaides KH et al. Fetal Diagn Ther. 2014;35(1):1-6.

  20. Struble et al. Fetal Diagn Ther. 2013;35(3):199-203.

  21. Willems et al. Facts View Vis Obgyn. 2014;6(1):7-12.

  22. Wallerstein et al. J Pregnancy 2014.

  23. Bevilacqua et al. Ultrasound Obstet Gynecol. 2015;45(1):61-66.

  24. Comas et al. J Matern Fetal Neonatal Med. 2015;28(10):1196-1201.

  25. Gil MM et al. Ultrasound Obstet Gynecol. 2015;45(1):67-73.

  26. Hernández-Gómez et al. Ginecol Obstet Mex. 2015;83(5):277-288.

  27. Norton ME et al. N Engl J Med. 2015;372(17):1589-1597.

  28. Quezada et al. Ultrasound Obstet Gynecol. 2015;45(1):101-105.

  29. Quezada et al. Ultrasound Obstet Gynecol. 2015;45(1):36-41.

  30. Stokowski et al. Prenat Diagn. 2015;35(12):1243-1246.

  31. Chen et al. Prenat Diagn. 2016;36(13):1217-1224.

  32. Gil MM et al. Ultrasound Obstet Gynecol. 2016;47(1):45-52.

  33. Gil MM et al. J Matern Neontal Med. 2016:November 1-7.

  34. Kagan et al. Arch Gynecol Obstet. 2016;294(2):219-224.

  35. McLennan et al. Aust NZ J Obstet Gynaecol. 2016;56(1):22-28.

  36. Revello et al. Ultrasound Obstet Gynecol. 2016;47(6):698-704.

  37. Sarno et al. Ultrasound Obstet Gynecol. 2016;47(6):705-711.

  38. Bevilacqua et al. Fetal Diagn Ther. 2017 Aug 23.

  39. Bjerregaard et al. Dan Med J. 2017 Apr;64(4).pii: A5359.

  40. Chan et al. BJOG An Int J Obstet Gynaecol 2017

  41. Jones et al. Ultrasound Obstet Gynecol. 2018 51:274-277.*

  42. Kagan et al. Ultrasound Obstet Gynecol. 2017 Sep 19.

  43. Kornman et al. Fetal Diagn Ther. 2017 Sep 6.

  44. Langlois et al. Prenat Diagn. 2017 37(12)1238-1244

  45. Miltoft et al. Ultrasound Obstet Gynecol. 2017 Jun 22.

  46. Richardson et al. Prenat Diagn. 2017 Dec 37(13) 1298-1304

  47. Schmid et al. Fetal Diagn Ther. 2017 Nov 8.

  48. Scott et al. J Matern Neonatal Med. June 8 2017:1-8.

  49. Rolnik et al. Ultrasound Obstet Gynecol. 2018 Jan 10.

  50. Schmid et al Obstet Gynecol 2018; 51: 813–817

  51. Lee et a Hum Reprod. 2018 Feb 15.

  52. Bevilacqua et al Fetal Diagn Ther. 2018 Jun 13:1-10

  53. Kagan et al Fetal Diagn Ther 2018

  54. Chen et al J Matern Fetal Neonatal Med. 2018 Jun 20:1-4

  55. Rolnick et al Obstetrics & Gyn 2018;. 132:2,

  56. Kostenko et al Fetal Diagn Ther. 2018 Aug 21:1-11

  57. Bevilacqua et al Exp Rev Molec Diagn 2018; 18:7 591–599

  58. Galeva et al Ultrasound Obstet Gynecol 2018

  59. Kagan et al Arch Gynecol Obstet. 2018 Dec 5.

*Analytical & clinical validations, clinical utility studies. Cost analysis and registry publications are excluded from the samples-studied calculations

iv Norton M, et al. N Engl J Med. 2015 Apr 23;372(17):1589-97

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