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Should non-invasive prenatal testing (NIPT) be used for fetal sex determination? Perspectives and experiences of healthcare professionals

European Journal of Human Genetics volume 32, pages 309–316 (2024)Cite this article

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Abstract

Non-invasive prenatal testing (NIPT) can not only accurately detect early in pregnancy the presence of chromosomal abnormalities but also fetal sex. However, whether fetal sex should be reported after performing NIPT is ethically contentious. In Belgium, NIPT is practically fully reimbursed and offered to all pregnant women as a first-tier screening. In practice, fetal sex is reported upon request of the expectant parents; however, this is not stipulated in guidelines. As more countries are offering NIPT and looking to implement it in public healthcare, challenges and insights of healthcare professionals working in Belgium can be of value for others. We assessed healthcare professionals’ experiences with and perspectives on sex determination and reporting following NIPT in Belgium by conducting a semi-structured interview study. We interviewed 30 professionals involved in prenatal screening. While overall healthcare professionals did not consider reporting fetal sex to be an issue if the expectant parents want to know, some consider the reporting of a non-medical trait like fetal sex problematic when it is reimbursed or if it could lead to sex-selective termination of pregnancy. Moreover, the strong desire of expectant parents to know fetal sex risks compromising informed decision-making about NIPT. In this way, fetal sex may distract from the primary aim of NIPT as a test for medical conditions. Improving pre-test counseling both in terms of quality and availability may help overcome some of these issues.

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To protect the privacy of the participants, the data on which this paper was built can not be shared publicly. The data can be shared on reasonable request to the corresponding author.

Notes

  1. Sex refers to the biological and genetic make-up of the sex chromosomes, gender refers to socio-cultural and psychological identity. Not everyone has the same gender identity as their chromosomal sex. NIPT is regularly wrongly dubbed as the ‘gender test’ in common discourse. This is inaccurate because it detects chromosomal sex, it does not determine gender.

References

  1. Pasche Guignard F. A gendered bun in the oven: the gender reveal party as a new ritualization during pregnancy. Stud Relig. 2015;44:479–500.

    Article  Google Scholar 

  2. Barnes MW. Anticipatory socialization of pregnant women: learning fetal sex and gendered interactions. Sociol Perspect. 2015;58:187–203.

    Article  Google Scholar 

  3. Barnes MW. Fetal sex determination and gendered prenatal consumption. J Consum Cult. 2015;15:371–90.

    Article  Google Scholar 

  4. Devaney SA, Palomaki GE, Scott JA, Bianchi DW. Noninvasive fetal sex determination using cell-free fetal DNA. JAMA. 2011;306:627–36.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  5. Kearin M, Pollard K, Garbett I. Accuracy of sonographic fetal gender determination: predictions made by sonographers during routine obstetric ultrasound scans. Australas J Ultrasound Med. 2014;17:125–30.

    Article  PubMed  Google Scholar 

  6. De Jong A, Maya I, van Lith JMM. Prenatal screening: current practice, new developments, ethical challenges. Bioethics. 2015;29:1–8.

    Article  PubMed  Google Scholar 

  7. De Jong A, de Wert GMWR. Prenatal Screening: An Ethical Agenda for the Near Future. Bioethics. 2015;29:46–55.

    Article  PubMed  Google Scholar 

  8. 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 Genom Hum Genet. 2021;22:309–38.

    Article  Google Scholar 

  9. Dondorp W, de Wert G, Bombard Y, Bianchi DW, Bergmann C, Borry P, et al. Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Eur J Hum Genet. 2015;23:1438–50.

    Article  PubMed  PubMed Central  Google Scholar 

  10. Johnston J, Zacharias RL. The future of reproductive autonomy. Hastings Cent Rep. 2017;47:S6–11.

    Article  PubMed  PubMed Central  Google Scholar 

  11. Newson AJ. Ethical aspects arising from non-invasive fetal diagnosis. Semin Fetal Neonatal Med. 2008;13:103–8.

    Article  PubMed  Google Scholar 

  12. Browne TK. Why parents should not be told the sex of their fetus. J Med Eth. 2017;43:5–10.

    Article  Google Scholar 

  13. Savulescu J. In defense of selection for nondisease genes. Am J Bioeth. 2001;1:16–9.

    Article  CAS  PubMed  Google Scholar 

  14. Van Den Bogaert K, Lannoo L, Brison N, Gatinois V, Baetens M, Blaumeiser B, et al. Outcome of publicly funded nationwide first-tier noninvasive prenatal screening. Genet Med. 2021;23:1137–42.

    Article  PubMed  Google Scholar 

  15. Duquenne A, Marichal A, Baetens M, Blaumeiser B, Brison N, Bruneau M, et al. Multicentric longitudinal performance monitoring of different non-invasive prenatal screening technologies used in Belgium. In: Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: Oral Presentations. In: Eur J Hum Genet. 2023;31:46–7.

  16. Directoraat-generaal gezondheidszorg. FRPB/2016/ADVIES-4. p. 1–5 Advies van de Federale Raad voor de paramedische beroepen betreffende de “genetic counselor” 2016. Available from: https://overlegorganen.gezondheid.belgie.be/nl/documenten/advies-frpb-201604-betreffende-de-genetic-counselor.

  17. BeSHG. Belgian guidelines for managing incidental findings detected by NIPT [Internet]. 2021. Available from: https://www.college-genetics.be/assets/recommendations/fr/guidelines/BeSHG%20prenatal%20consortium_guidelines%20managing%20incidental%20findings%20detected%20by%20NIPT.pdf.

  18. Braun V, Clarke V. Reflecting on reflexive thematic analysis. Qual Res Sport Exerc Health. 2019;11:589–97.

    Article  Google Scholar 

  19. Horn R. NIPT and the concerns regarding ‘routinisation.’ Eur J Hum Genet. 2022;30:637–8.

    Article  ADS  PubMed  PubMed Central  Google Scholar 

  20. Kater-Kuipers A, De Beaufort ID, Galjaard RJH, Bunnik EM. Ethics of routine: a critical analysis of the concept of routinisation in prenatal screening. J Med Eth. 2018;44:626–31.

    Article  Google Scholar 

  21. Schöne-Seifert B, Junker C. Making use of non-invasive prenatal testing (NIPT): rethinking issues of routinization and pressure. J Perinat Med. 2021;49:959–64.

    Article  PubMed  Google Scholar 

  22. Lannoo L, van der Meij KRM, Bekker MN, De Catte L, Deckers S, Devriendt K, et al. A cross‐country comparison of pregnant women’s decision‐making and perspectives when opting for non‐invasive prenatal testing in the Netherlands and Belgium. Prenat Diagn. 2023;43:294–303.

    Article  PubMed  Google Scholar 

  23. Bunnik EM, Kater-Kuipers A, Galjaard RJH, de Beaufort ID. Should pregnant women be charged for non-invasive prenatal screening? Implications for reproductive autonomy and equal access. J Med Eth. 2020;46:194–8.

    Article  Google Scholar 

  24. Steffensen EH, Skakkebæk A, Gadsbøll K, Petersen OB, Westover T, Strange H, et al. Inclusion of sex chromosomes in noninvasive prenatal testing in Asia, Australia, Europe and the USA: a survey study. Prenat Diagn. 2023;43:144–55.

    Article  PubMed  Google Scholar 

  25. Stevens C, Llorin H, Gabriel C, Mandigo C, Gochyyev P, Studwell C. Genetic counseling for fetal sex prediction by NIPT: challenges and opportunities. J Genet Coun. 2023:1–12. https://doi.org/10.1002/jgc4.1703.

  26. Bayefsky MJ, Berkman BE. Implementing expanded prenatal genetic testing: should parents have access to any and all fetal genetic information? Am J Bioeth. 2021;22:1–19.

    Article  Google Scholar 

  27. 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 Eth. 2019;45:231–8.

    Article  Google Scholar 

  28. Young N, Hallam J, Jackson J, Barnes C, Montague J. Exploring the lived experiences of mothers who identify with ‘gender disappointment.’. J Health Visit. 2021;9:470–6.

    Article  Google Scholar 

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Acknowledgements

The authors wish to thank the healthcare professionals who participated in this study for their time and valuable insights. Furthermore, we would like to thank Maria Siermann for helpful feedback, Karuna van der Meij for helpful discussions on the topic, and Lore Lannoo for helpful insights. We would also like to thank the anonymous reviewers for their questions and comments.

Funding

No grants were received for this study.

Author information

Authors and Affiliations

  1. Centre for Biomedical Ethics and Law, Department of Public Health and Primary Care, KU Leuven, Leuven, Belgium

    Zoë Claesen-Bengtson, Eline Vermeersch & Pascal Borry

  2. Australian Centre for Precision Health, University of South Australia, Adelaide, SA, Australia

    Hilary Bowman-Smart

  3. Biomedical Ethics Research Group, Murdoch Children’s Research Institute, Parkville, VIC, Australia

    Hilary Bowman-Smart

  4. Monash Bioethics Centre, Monash University, Clayton, VIC, Australia

    Hilary Bowman-Smart

  5. Laboratory for Cytogenetics and Genome Research, Department of Human Genetics, UZ Leuven, Leuven, Belgium

    Joris Robert Vermeesch

  6. Department of Human Genetics, and Amsterdam Reproduction and Development Research Institute, Amsterdam UMC, location Vrije Universiteit, Amsterdam, The Netherlands

    Lidewij Henneman

Authors
  1. Zoë Claesen-Bengtson
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  2. Hilary Bowman-Smart
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  3. Eline Vermeersch
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  4. Joris Robert Vermeesch
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  5. Lidewij Henneman
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  6. Pascal Borry
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Contributions

Conceptualization: ZC, LH, JRV, PB. Investigation and methodology: ZC, EV. Analysis: ZC, EV, LH. Project administration: ZC. Supervision: LH, JRV, PB. Writing original paper: ZC. Editing and critical revision of paper: ZC, HBS, JRV, LH, PB.

Corresponding author

Correspondence to Zoë Claesen-Bengtson.

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Competing interests

The authors declare no competing interests.

Ethics approval

This study received ethics approval from the Research Ethics Committee UZ Leuven S65668. All participants signed an informed consent form to participate in this study.

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Claesen-Bengtson, Z., Bowman-Smart, H., Vermeersch, E. et al. Should non-invasive prenatal testing (NIPT) be used for fetal sex determination? Perspectives and experiences of healthcare professionals. Eur J Hum Genet 32, 309–316 (2024). https://doi.org/10.1038/s41431-024-01536-8

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  • DOI: https://doi.org/10.1038/s41431-024-01536-8

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