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Views of Canadian healthcare professionals on the future uses of non-invasive prenatal testing: a mixed method study


Non-invasive prenatal testing’s (NIPT) potential to screen for a wide range of conditions is receiving growing attention. This study explores Canadian healthcare professionals’ perceptions towards NIPT’s current and possible future uses, including paternity testing, sex determination, and fetal whole genome sequencing. Semi-structured interviews were conducted with ten healthcare professionals, and another 184 participated in a survey. The triangulation of our findings shows that there is considerable agreement among healthcare professionals on expanding NIPT use for medical conditions including fetal aneuploidies and monogenic diseases, but not for non-medical conditions (sex determination for non-medical reasons and paternity testing), nor for risk predisposition information (late onset diseases and Fetal Whole Genome Sequencing). Healthcare professionals raise concerns related to eugenics, the future child’s privacy, and psychological and emotional burdens to prospective parents. Professional societies need to take these concerns into account when educating healthcare professionals on the uses of NIPT to ensure prospective parents’ reproductive decisions are optimal for them and their families.

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Data availability

The qualitative interview data analyzed during the current study are not publicly available because they might potentially include identifying information that could compromise research participant privacy and consent. Sections of anonymized data are available from the corresponding author on reasonable request. The interview guide used to collect data is provided as a supplementary file (Additional file 1) to the manuscript.

The survey questionnaire is provided as an additional file to the manuscript (Additional file 2).


  1. Quezada MS, Gil MM, Francisco C, Oròsz G, Nicolaides KH. Screening for trisomies 21, 18 and 13 by cell-free DNA analysis of maternal blood at 10-11 weeks’ gestation and the combined test at 11-13 weeks. Ultrasound Obstet Gynecol. 2015;45:36–41.

    CAS  Article  Google Scholar 

  2. Taylor-Phillips S, Freeman K, Geppert J, Agbebiyi A, Uthman OA, Madan J, et al. Accuracy of non-invasive prenatal testing using cell-free DNA for detection of Down, Edwards and Patau syndromes: a systematic review and meta-analysis. BMJ Open. 2016;6:e010002.

    Article  Google Scholar 

  3. Guseh SH. Noninvasive prenatal testing: from aneuploidy to single genes. Hum Genet. 2020;139:1141–8.

    Article  Google Scholar 

  4. Birko S, Lemoine M-E, Nguyen M, Ravitsky V. Moving towards routine non-invasive prenatal testing (NIPT): challenges related to women’s autonomy. OBM. Genetics 2018;2:1–14.

    Article  Google Scholar 

  5. Haidar H, Le Clerc-Blain J, Vanstone M, Laberge A-M, Bibeau G, Ghulmiyyah L, et al. A qualitative study of women and partners from Lebanon and Quebec regarding an expanded scope of noninvasive prenatal testing. BMC Pregnancy Childbirth. 2021;21:54.

    Article  Google Scholar 

  6. Bowman-Smart H, Savulescu J, Mand C, Gyngell C, Pertile MD, Lewis S, et al. ‘Is it better not to know certain things?’: views of women who have undergone non-invasive prenatal testing on its possible future applications. J Med Ethics. 2019;45:231–8.

    Article  Google Scholar 

  7. Benachi A, Caffrey J, Calda P, Carreras E, Jani JC, Kilby MD, et al. Understanding attitudes and behaviors towards cell-free DNA-based noninvasive prenatal testing (NIPT): A survey of European health-care providers. Eur J Med Genet. 2019;63:1–8.

    Google Scholar 

  8. Kater-Kuipers A, Bunnik EM, de Beaufort ID, Galjaard RJH. Limits to the scope of non-invasive prenatal testing (NIPT): an analysis of the international ethical framework for prenatal screening and an interview study with Dutch professionals. BMC Pregnancy Childbirth. 2018;18:409.

    CAS  Article  Google Scholar 

  9. Vanstone M, Yacoub K, Giacomini M, Hulan D, McDonald S. Women’s experiences of publicly funded non-invasive prenatal testing in Ontario, Canada: considerations for health technology policy-making. Qualitative Health Res. 2015;25:1069–84.

    Article  Google Scholar 

  10. Langlois S, Brock JA, Wilson RD, Audibert F, Brock JA, Carroll J, et al. Current status in non-invasive prenatal detection of Down syndrome, trisomy 18, and trisomy 13 using cell-free DNA in maternal plasma. J Obstet Gynaecol Can. 2013;35:177–83.

    Article  Google Scholar 

  11. Audibert F, De Bie I, Johnson JA, Okun N, Wilson RD, Armour C, et al. No. 348-Joint SOGC-CCMG guideline: update on prenatal screening for fetal aneuploidy, fetal anomalies, and adverse pregnancy outcomes. J Obstet Gynaecol Can. 2017;39:805–17.

    Article  Google Scholar 

  12. Sandelowski M. What’s in a name? Qualitative description revisited. Res Nurs Health. 2010;33:77–84.

    Article  Google Scholar 

  13. Haidar H, Dupras C, Ravitsky V. Non-invasive prenatal testing: review of ethical, legal and social implications. BioéthiqueOnlne. 2016;5:1–14.

    Google Scholar 

  14. O’Connor C, Joffe H. Intercoder reliability in qualitative research: debates and practical guidelines. Int J Qualitative Methods. 2020;19:1609406919899220.

    Article  Google Scholar 

  15. Weiss MM, Hermsen MA, Meijer GA, van Grieken NC, Baak JP, Kuipers EJ, et al. Comparative genomic hybridisation. Mol Pathol. 1999;52:243–51.

    CAS  Article  Google Scholar 

  16. Farrimond HR, Kelly SE. Public viewpoints on new non-invasive prenatal genetic tests. Public Understanding Sci. 2011;6:730–44.

    Google Scholar 

  17. Ravitsky V, Birko S, Le Clerc-Blain J, Haidar H, Affdal AO, Lemoine M, et al. Noninvasive prenatal testing: views of canadian pregnant women and their partners regarding pressure and societal concerns. AJOB Empirical Bioethics. 2020;1:53–62.

  18. Shakespeare T. A Brave New World of Bespoke Babies? Am J Bioeth. 2017;17:19–20.

    Article  Google Scholar 

  19. Donley G, Hull SC, Berkman BE. Prenatal whole genome sequencing: just because we can, should we? The. Hastings Cent Rep. 2012;42:28–40.

    Article  Google Scholar 

  20. Ravitsky V, Roy MC, Haidar H, Henneman L, Marshall J, Newson AJ, et al. The emergence and global spread of noninvasive prenatal testing. Annu Rev Genomics Hum Genet. 2021;22:309–38.

    Article  Google Scholar 

  21. Benn P, Chapman AR, Erickson K, Defrancesco MS, Wilkins-Haug L, Egan JF, et al. Obstetricians’ and gynecologists’ practice and opinions of expanded carrier testing and non-invasive prenatal testing. Prenatal Diagn. 2013;2:145–52.

    Google Scholar 

  22. Farrell RM, Agatisa PK, Mercer MB, Mitchum A, Coleridge M. The use of noninvasive prenatal testing in obstetric care: educational resources, practice patterns, and barriers reported by a national sample of clinicians. Prenat Diagn. 2016;6:499–506.

    Article  Google Scholar 

  23. Ravitsky V. The shifting landscape of prenatal testing: between reproductive autonomy and public health. Hastings Cent Rep.2017;47 Suppl 3:S34–40.

    Article  Google Scholar 

  24. de Jong A, de Wert GM. Prenatal screening: an ethical agenda for the near future. Bioethics. 2015;29:46–55.

    Article  Google Scholar 

  25. Chen SC, Wasserman DT. A framework for unrestricted prenatal whole-genome sequencing: respecting and enhancing the autonomy of prospective parents. Am J Bioeth. 2017;17:3–18.

    Article  Google Scholar 

  26. Horn R, Parker M. Health professionals’ and researchers’ perspectives on prenatal whole genome and exome sequencing: ‘We can’t shut the door now, the genie’s out, we need to refine it’. PLoS One. 2018;13:e0204158.

    Article  Google Scholar 

  27. Haidar H, Iskander R. Non-invasive prenatal testing for fetal whole genome sequencing: an interpretive critical review of the ethical, legal, social, and policy implications. Can J Bioethics / Revue canadienne de bioéthique. 2022;5:1–15.

  28. Deans Z, Clarke AJ, Newson AJ. For your interest? The ethical acceptability of using non-invasive prenatal testing to test ‘purely for information’. Bioethics. 2015;29:19–25.

    Article  Google Scholar 

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We are grateful to all the participants in this study and to those who helped in recruiting them. We also thank the American University of Beirut Medical Center and the Center hospitalier universitaire Sainte-Justine.


This study was completed under the PEGASUS (PErsonalized Genomics for prenatal Aneuploidy Screening USing maternal blood) grant, funded by Genome Canada, Genome Quebec, and the Canadian Institutes for Health Research (CIHR). None of the funding bodies had any input regarding the design of the study; the collection, analysis, or interpretation of data; nor in writing the manuscript.

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Authors and Affiliations



HH and VR designed the qualitative study. HH collected the interview data. HH and GB analyzed the data, with input from JLCB, VR, AML. The survey was conceived by VR and AML, designed by VR, AML, JLCB, HH. Survey Data was interpreted by SB, VR, AML. HH and SB drafted the article. All authors critically reviewed the article and approved the final version for publication.

Corresponding author

Correspondence to Hazar Haidar.

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Competing interests

The authors declare no competing interests.

Ethical approval

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000. Approval for this study was obtained from the research ethics committee at the Center hospitalier universitaire Sainte-Justine (CHUSJ) (#3976) in Montreal, Quebec, Canada in September 2014 and from the institutional review board (IRB) at the American University of Beirut Medical Center (AUBMC), Beirut, Lebanon, in June 2015. Written informed consent was obtained from all study participants prior to data collection. Ethical approval for the surveys was obtained from the CHU Sainte-Justine associated with the University of Montreal (#3781) as well as from the CRCHU de Québec (#B14-10-2146), the Ottawa Hospital Research Institute, BC Children’s Hospital, the University of Calgary, and the Newfoundland and Labrador Health Research Ethics Authority.

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Haidar, H., Birko, S., Laberge, AM. et al. Views of Canadian healthcare professionals on the future uses of non-invasive prenatal testing: a mixed method study. Eur J Hum Genet (2022).

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