Publications

Real-world comparative effectiveness of genomic non-invasive prenatal testing methods for aneuploidy

 

2019

Rousseau F, Langlois S, Johnson JA, Gekas J, Bujold E, Audibert F, Walker M, Giroux S, Caron A, Clément V, Blais J, MacLeod T, Moore R, Gauthier J, Jouan L, Laporte A, Diallo O, Parker J, Swanson L, Zhao Y, Labelle Y, Giguère Y, Forest JC, Little J, Karsan A, Rouleau G. Prospective head-to-head comparison ofaccuracy of two sequencing platforms for screening for fetal aneuploidy bycell-free DNA: the PEGASUS study. Eur J Hum Genet. 2019 Nov;27(11):1701-1715. doi: 10.1038/s41431-019-0443-0. Epub 2019 Jun 23. PubMed PMID: 31231136.
Open Access

Blais J, Giroux S, Caron A, Clément V, Rousseau F. Development of Reference Materials for Noninvasive Prenatal Aneuploidy Testing by Massively Parallel Sequencing: A Proof-of-Concept Study. J Appl Lab Med. 2019 Jul;4(1):50-60. doi:10.1373/jalm.2018.028100. Epub 2019 Mar 1. PubMed PMID: 31639707.

 

2018

Chan WV, Johnson JA, Wilson RD, Metcalfe A. Obstetrical provider knowledge and attitudes towards cell-free DNA screening: results of a cross-sectional national survey. BMC Pregnancy Childbirth. 2018 Jan 23;18(1):40. doi:10.1186/s12884-018-1662-z. PubMed PMID: 29361931; PubMed Central PMCID:PMC5781306.
Open Access

Blais J, Giroux S, Caron A, Clément V, Dionne-Laporte A, Jouan L, Gauthier J, MacLeod T, Moore R, Parker J, Swanson L, Zhao Y, Rouleau G, Karsan A, Langlois S, Rousseau F. Non-invasive prenatal aneuploidy testing: Critical diagnosticperformance parameters predict sample z-score values. Clin Biochem. 2018 Sep;59:69-77. doi: 10.1016/j.clinbiochem.2018.06.015. Epub 2018 Jun 27. PubMed PMID: 29958880.
Open Access

 

2017

Langlois S, Johnson J, Audibert F, Gekas J, Forest JC, Caron A, Harrington K, Pastuck M, Meddour H, Tétu A, Little J, Rousseau F. Comparison of first-tiercell-free DNA screening for common aneuploidies with conventional publicallyfunded screening. Prenat Diagn. 2017 Dec;37(12):1238-1244. doi: 10.1002/pd.5174.  Epub 2017 Nov 21. PubMed PMID: 29080223.

Audibert F, De Bie I, Johnson JA, Okun N, Wilson RD, Armour C, Chitayat D, Kim R. No. 348-Joint SOGC-CCMG Guideline: Update on Prenatal Screening for FetalAneuploidy, Fetal Anomalies, and Adverse Pregnancy Outcomes. J Obstet Gynaecol Can. 2017 Sep;39(9):805-817. doi: 10.1016/j.jogc.2017.01.032. Erratum in: J Obstet Gynaecol Can. 2018 Aug;40(8):1109. PubMed PMID: 28859766.

Salomon LJ, Alfirevic Z, Audibert F, Kagan KO, Paladini D, Yeo G, Raine-Fenning N; ISUOG Clinical Standards Committee. ISUOG updated consensusstatement on the impact of cfDNA aneuploidy testing on screening policies andprenatal ultrasound practice. Ultrasound Obstet Gynecol. 2017 Jun;49(6):815-816.  doi: 10.1002/uog.17483. PubMed PMID: 28573775.
Open Access

Badeau M, Lindsay C, Blais J, Nshimyumukiza L, Takwoingi Y, Langlois S, Légaré F, Giguère Y, Turgeon AF, Witteman W, Rousseau F. Genomics-based non-invasiveprenatal testing for detection of fetal chromosomal aneuploidy in pregnant women. Cochrane Database Syst Rev. 2017 Nov 10;11:CD011767. doi: 10.1002/14651858.CD011767.pub2. Review. PubMed PMID: 29125628; PubMed Central PMCID: PMC6486016.
Open Access

Gekas J, Langlois S, Ravitsky V, Audibert F, van den Berg DG, Haidar H, Rousseau F. Non-invasive prenatal testing for fetal chromosome abnormalities:review of clinical and ethical issues. Appl Clin Genet. 2016 Feb 4;9:15-26. doi:  10.2147/TACG.S85361. eCollection 2016. Review. PubMed PMID: 26893576; PubMed Central PMCID: PMC4745955.
Open Access

Gekas J, Langlois S, Ravitsky V, Audibert F, van den Berg DG, Haidar H, Rousseau F. Identification of trisomy 18, trisomy 13, and Down syndrome frommaternal plasma. Appl Clin Genet. 2014 Jul 7;7:127-31. doi: 10.2147/TACG.S35602.  eCollection 2014. Review. PubMed PMID: 25053891; PubMed Central PMCID: PMC4104725.
Open Access

Cost-effectiveness of non-invasive prenatal testing for screening and diagnosis of aneuploidy

2018

Nshimyumukiza L, Menon S, Hina H, Rousseau F, Reinharz D. Cell-free DNA noninvasive prenatal screening for aneuploidy versus conventional screening: A systematic review of economic evaluations. Clin Genet. 2018 Jul;94(1):3-21. doi:  10.1111/cge.13155. Epub 2018 Jan 25. PubMed PMID: 29030960.

Nshimyumukiza L, Beaumont JA, Duplantie J, Langlois S, Little J, Audibert F,  McCabe C, Gekas J, Giguère Y, Gagné C, Reinharz D, Rousseau F. Cell-FreeDNA-Based Non-invasive Prenatal Screening for Common Aneuploidies in a CanadianProvince: A Cost-Effectiveness Analysis. J Obstet Gynaecol Can. 2018 Jan;40(1):48-60. doi: 10.1016/j.jogc.2017.05.015. Epub 2017 Aug 4. PubMed PMID: 28784564.

Nshimyumukiza L. Author Response: Modelling in Down Syndrome Screening. J Obstet Gynaecol Can. 2018 Mar;40(3):290-291. doi: 10.1016/j.jogc.2017.10.031. Epub 2017 Dec 29. PubMed PMID: 29291928.

 

Ethical, legal and social issues in non-invasive prenatal testing

2019

Park JY, Risher MT, Caulfield T, Baudhuin LM, Schwab AP. Privacy in Direct-to-Consumer Genetic Testing. Clin Chem. 2019 May;65(5):612-617. doi:10.1373/clinchem.2018.298935. Epub 2019 Feb 28. PubMed PMID: 30819664.
Open Access

Birko S, Ravitsky V, Dupras C, Le Clerc-Blain J, Lemoine ME, Affdal AO, Haidar H, Laberge AM. The value of non-invasive prenatal testing: preferences ofCanadian pregnant women, their partners, and health professionals regarding NIPT  use and access. BMC Pregnancy Childbirth. 2019 Jan 10;19(1):22. doi: 10.1186/s12884-018-2153-y. PubMed PMID: 30630440; PubMed Central PMCID: PMC6327577.
Open Access

Laberge AM, Birko S, Lemoine MÈ, Le Clerc-Blain J, Haidar H, Affdal AO, Dupras C, Ravitsky V. Canadian Pregnant Women's Preferences Regarding NIPT for DownSyndrome: The Information They Want, How They Want to Get It, and With Whom They  Want to Discuss It. J Obstet Gynaecol Can. 2019 Jun;41(6):782-791. doi: 10.1016/j.jogc.2018.11.003. Epub 2019 Feb 7. PubMed PMID: 30738740.
Open Access

Laberge AM, Richer J, Ravitsky V. Toward Broader Genetic Contextualism: Genetic Testing Enters the Age of Evidence-Based Medicine. Am J Bioeth. 2019Jan;19(1):77-79. doi: 10.1080/15265161.2018.1544315. PubMed PMID: 31307361.

 

2018

Dupras C, Birko S, Affdal A, Haidar H, Lemoine ME, Ravitsky V. Benefits, challenges and ethical principles associated with implementing noninvasive prenatal testing: a Delphi study. CMAJ Open. 2018 Oct 31;6(4):E513-E519. doi:10.9778/cmajo.20180083. Print 2018 Oct-Dec. PubMed PMID: 30381324; PubMed CentralPMCID: PMC6208091.
Open Access

Haidar H, Vanstone M, Laberge AM, Bibeau G, Ghulmiyyah L, Ravitsky V. Cross-cultural perspectives on decision making regarding noninvasive prenataltesting: A comparative study of Lebanon and Quebec. AJOB Empir Bioeth. 2018 Apr-Jun;9(2):99-111. doi: 10.1080/23294515.2018.1469551. PubMed PMID: 29847254.

Marcon AR, Bieber M, Caulfield T. Representing a "revolution": how the popular press has portrayed personalized medicine. Genet Med. 2018 Sep;20(9):950-956. doi: 10.1038/gim.2017.217. Epub 2018 Jan 4. PubMed PMID: 29300377.
Open Access

 

2017

Ravitsky, V. Choice, not "reflex" : routine prenatal screening. Impact Ethics, 2017.
Open Access

Mozersky J, Ravitsky V, Rapp R, Michie M, Chandrasekharan S, Allyse M. Toward an Ethically Sensitive Implementation of Noninvasive Prenatal Screening in the Global Context. Hastings Cent Rep. 2017 Mar;47(2):41-49. doi: 10.1002/hast.690.PubMed PMID: 28301696; PubMed Central PMCID: PMC5568559.
Open Access

Murdoch B, Ravitsky V, Ogbogu U, Ali-Khan S, Bertier G, Birko S, Bubela T, De  Beer J, Dupras C, Ellis M, Granados Moreno P, Joly Y, Kamenova K, Master Z, Marcon A, Paulden M, Rousseau F, Caulfield T. Non-invasive Prenatal Testing andthe Unveiling of an Impaired Translation Process. J Obstet Gynaecol Can. 2017 Jan;39(1):10-17. doi: 10.1016/j.jogc.2016.09.004. Epub 2016 Oct 17. PubMed PMID:  28062017.

Ravitsky V, Rousseau F, Laberge AM. Providing Unrestricted Access to Prenatal  Testing Does Not Translate to Enhanced Autonomy. Am J Bioeth. 2017Jan;17(1):39-41. PubMed PMID: 27996925.

Knoppers BM, Isasi R, Caulfield T, Kleiderman E, Bedford P, Illes J, Ogbogu U, Ravitsky V, Rudnicki M. Human gene editing: revisiting Canadian policy. NPJ Regen Med. 2017 Jan 5;2:3. doi: 10.1038/s41536-017-0007-2. eCollection 2017. PubMed PMID: 29302340; PubMed Central PMCID: PMC5677987.
Open Access

Ravitsky V. The Shifting Landscape of Prenatal Testing: Between Reproductive Autonomy and Public Health. Hastings Cent Rep. 2017 Dec;47 Suppl 3:S34-S40. doi:  10.1002/hast.793. PubMed PMID: 29171889.
Open Access

2016

Ravitsky V, Mozersky J, Michie M, Rapp R, Allyse M, Chandrasekharan S. Non-invasive prenatal testing in the non-Western context. BioNews, 2016.
Open Access

Haidar H, Dupras C, Ravitsky V. Non-Invasive Prenatal Testing: Review of Ethical, Legal and Social Implications. Bioéthique Online, 2016.
Open Access

Kamenova K, Ravitsky V, McMullin S, Caulfield T. Media portrayal of non-invasive prenatal testing: a missing ethical dimension. Journal of Science Communication, 2016.
Open Access

Auffray C, Caulfield T, Griffin JL, Khoury MJ, Lupski JR, Schwab M. From genomic medicine to precision medicine: highlights of 2015. Genome Med. 2016 Jan  29;8(1):12. doi: 10.1186/s13073-016-0265-4. PubMed PMID: 26825779; PubMed CentralPMCID: PMC4733269.
Open Access

2015

Lemoine, ME. Moral Responsibility in the Context of Prenatal Testing: What can be Expected? Bioéthique Online, 2015.
Open Access

Levy M, Ravitsky V. Baby steps forward, baby steps back: towards a more liberal Swiss regulation of reproduction. BioNews, 2015.
Open Access

Caulfield, T. Genetic discrimination. Policy Options, 2015.
Open Access

Haidar H, Rispler-Chaim V, Hung A, Chandrasekharan S, Ravitsky V. Noninvasive Prenatal Testing: Implications for Muslim Communities. AJOB Empirical Bioethics, 6:1, 94-105, 2015, DOI: 10.1080/23294515.2014.993101.

Du L, Kamenova K, Caulfield T. The gene patent controversy on Twitter: a case  study of Twitter users' responses to the CHEO lawsuit against Long QT gene patents. BMC Med Ethics. 2015 Aug 25;16:55. doi: 10.1186/s12910-015-0049-1.PubMed PMID: 26302779; PubMed Central PMCID: PMC4548905.
Open Access

 

2014

Caulfield T, Zarzeczny A. Defining 'medical necessity' in an age of personalised medicine: A view from Canada. Bioessays. 2014 Sep;36(9):813-7. doi:10.1002/bies.201400073. Epub 2014 Jul 24. PubMed PMID: 25059840.

Toews M, Caulfield T. Physician liability and non-invasive prenatal testing. J Obstet Gynaecol Can. 2014 Oct;36(10):907-914. doi: 10.1016/S1701-2163(15)30441-2. PubMed PMID: 25375305.
Open Access

 

Implementing patients’ decision aids in clinical practice for informed valued based decisions regarding non-invasive prenatal testing

 

2018

Abbasgholizadeh Rahimi S, Lépine J, Croteau J, Robitaille H, Giguere AM, Wilson BJ, Rousseau F, Lévesque I, Légaré F. Psychosocial Factors of HealthProfessionals' Intention to Use a Decision Aid for Down Syndrome Screening:Cross-Sectional Quantitative Study. J Med Internet Res. 2018 Apr 25;20(4):e114. doi: 10.2196/jmir.9036. PubMed PMID: 29695369; PubMed Central PMCID: PMC5943629.
Open Access

Agbadjé TT, Menear M, Dugas M, Gagnon MP, Rahimi SA, Robitaille H, Giguère AMC, Rousseau F, Wilson BJ, Légaré F. Pregnant women's views on how to promotethe use of a decision aid for Down syndrome prenatal screening: a theory-informedqualitative study. BMC Health Serv Res. 2018 Jun 8;18(1):434. doi: 10.1186/s12913-018-3244-1. PubMed PMID: 29884169; PubMed Central PMCID: PMC5994018.
Open Access

 

2017

Portocarrero ME, Giguère AM, Lépine J, Garvelink MM, Robitaille H, Delanoë A, Lévesque I, Wilson BJ, Rousseau F, Légaré F. Use of a patient decision aid forprenatal screening for Down syndrome: what do pregnant women say? BMC Pregnancy Childbirth. 2017 Mar 20;17(1):90. doi: 10.1186/s12884-017-1273-0. PubMed PMID: 28320334; PubMed Central PMCID: PMC5359918.
Open Access

Légaré F. Access to decision aids is important for evidence based medicine. BMJ. 2017 Aug 31;358:j3983. doi: 10.1136/bmj.j3983. PubMed PMID: 28860139.

Abbasgholizadeh Rahimi S, Menear M, Robitaille H, Légaré F. Are mobile health applications useful for supporting shared decision making in diagnostic and treatment decisions? Glob Health Action. 2017 Jun;10(sup3):1332259. doi:10.1080/16549716.2017.1332259. PubMed PMID: 28838306; PubMed Central PMCID:PMC5645724.
Open Access

Rahimi SA, Alizadeh M, Légaré F. Shared decision making in Iran: Current and  future trends. Z Evid Fortbild Qual Gesundhwes. 2017 Jun;123-124:52-55. doi:10.1016/j.zefq.2017.05.018. Epub 2017 May 23. Review. PubMed PMID: 28549749.

 

2016

Légaré, F. La prise de décision partagée. Le Point en santé et services sociaux, vol. 12, pp. 60-63, 2016.

Légaré F, Robitaille H, Gane C, Hébert J, Labrecque M, Rousseau F. Improving Decision Making about Genetic Testing in the Clinic: An Overview of Effective Knowledge Translation Interventions. PLoS One. 2016 Mar 3;11(3):e0150123. doi:10.1371/journal.pone.0150123. eCollection 2016. Review. PubMed PMID: 26938633;PubMed Central PMCID: PMC4777394.
Open Access

Becerra Pérez MM, Menear M, Brehaut JC, Légaré F. Extent and Predictors of Decision Regret about Health Care Decisions: A Systematic Review. Med DecisMaking. 2016 Aug;36(6):777-90. doi: 10.1177/0272989X16636113. Epub 2016 Mar 14.Review. PubMed PMID: 26975351.

Delanoë A, Lépine J, Leiva Portocarrero ME, Robitaille H, Turcotte S, Lévesque I, Wilson BJ, Giguère AM, Légaré F. Health literacy in pregnant women facingprenatal screening may explain their intention to use a patient decision aid: ashort report. BMC Res Notes. 2016 Jul 11;9:339. doi: 10.1186/s13104-016-2141-0. PubMed PMID: 27401163; PubMed Central PMCID: PMC4940686.
Open Access

Lépine J, Leiva Portocarrero ME, Delanoë A, Robitaille H, Lévesque I, Rousseau F, Wilson BJ, Giguère AM, Légaré F. What factors influence health professionalsto use decision aids for Down syndrome prenatal screening? BMC Pregnancy Childbirth. 2016 Sep 5;16:262. doi: 10.1186/s12884-016-1053-2. PubMed PMID: 27596573; PubMed Central PMCID: PMC5011951.
Open Access

Delanoë A, Lépine J, Turcotte S, Leiva Portocarrero ME, Robitaille H, Giguère AM, Wilson BJ, Witteman HO, Lévesque I, Guillaumie L, Légaré F. Role ofPsychosocial Factors and Health Literacy in Pregnant Women's Intention to Use aDecision Aid for Down Syndrome Screening: A Theory-Based Web Survey. J Med Internet Res. 2016 Oct 28;18(10):e283. PubMed PMID: 27793792; PubMed Central PMCID: PMC5106559.
Open Access

 

2015

Leiva Portocarrero ME, Garvelink MM, Becerra Perez MM, Giguère A, Robitaille H, Wilson BJ, Rousseau F, Légaré F. Decision aids that support decisions aboutprenatal testing for Down syndrome: an environmental scan. BMC Med Inform Decis Mak. 2015 Sep 24;15:76. doi: 10.1186/s12911-015-0199-6. PubMed PMID: 26404088; PubMed Central PMCID: PMC4583147.
Open Access 

 

 

 

Our funders