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Exploring attitudes and experiences with reproductive genetic carrier screening among couples seeking medically assisted reproduction: a longitudinal survey study

  • Assisted Reproduction Technologies
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Abstract

Purpose

This study aimed to assess the attitudes and experiences of subfertile couples applying for medically assisted reproduction (MAR) using their own gametes towards reproductive genetic carrier screening (RGCS) for monogenic conditions.

Methods

A prospective survey study was conducted where subfertile couples were recruited from the fertility centre of a university hospital in Flanders, Belgium. Participants were offered RGCS free of charge and completed self-administered questionnaires at three different time points.

Results

The study sample consisted of 26 couples. Most participants had no children, did not consider themselves as religious, and had some form of higher education. Overall, attitudes towards RGCS were mostly positive and the intention to participate in RGCS was high. Anxiety scores were only elevated and clinically relevant for a limited number of participants. A large proportion of participants would consider preventive reproductive options like prenatal diagnosis or in vitro fertilization (IVF)/intracytoplasmic sperm injection (ICSI) combined with pre-implantation genetic testing for monogenic conditions (PGT-M) in the event of an increased likelihood of conceiving a child with a hereditary condition. Participants were satisfied with their decision to undergo RGCS, and the majority would recommend RGCS to other couples.

Conclusion

Our study findings suggest that subfertile couples applying for MAR using their own gametes find RGCS acceptable and have a positive attitude towards it. This study provides valuable insights into the perspectives of these couples, highlighting the need for appropriate counseling and timely information provision.

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Data availability

All data supporting the findings of this study are available within the article.

References

  1. Chokoshvili D, Vears D, Borry P. Expanded carrier screening for monogenic disorders: where are we now? Prenat Diagn. 2018;38(1):59–66.

    Article  PubMed  Google Scholar 

  2. de Wert G, van der Hout S, Goddijn M, Vassena R, Frith L, Vermeulen N, et al. The ethics of preconception expanded carrier screening in patients seeking assisted reproduction. Hum Reprod Open. 2021;2021(1):hoaa063.

    Article  PubMed  PubMed Central  Google Scholar 

  3. Larsen D, Ma J, Strassberg M, Ramakrishnan R, Van den Veyver IB. The uptake of panethnic expanded carrier screening is higher when offered during preconception or early prenatal genetic counseling. Prenat Diagn. 2019;39(4):319–23.

    Article  PubMed  Google Scholar 

  4. Franasiak JM, Olcha M, Bergh PA, Hong KH, Werner MD, Forman EJ, et al. Expanded carrier screening in an infertile population: how often is clinical decision making affected? Genet Med. 2016;18(11):1097–101.

    Article  PubMed  Google Scholar 

  5. McQueen DB, Warren CM, Xiao AH, Shulman LP, Jain T. Disparities among infertility patients regarding genetic carrier screening, sex selection, and gene editing. J Assist Reprod Genet. 2021;38(9):2319–25.

    Article  PubMed  PubMed Central  Google Scholar 

  6. Higgins A, Flanagan J, Wald TV, Hansen KA. An expanded carrier screening tool enhances preconception cystic fibrosis screening in infertile couples. Open J Obstet Gynecol. 2015;05(07):5.

    Article  Google Scholar 

  7. Pereira N, Wood M, Luong E, Briggs A, Galloway M, Maxwell RA, et al. Expanded genetic carrier screening in clinical practice: a current survey of patient impressions and attitudes. J Assist Reprod Genet. 2019;36(4):709–16.

    Article  PubMed  PubMed Central  Google Scholar 

  8. Rothwell E, Lamb B, Johnson E, Gurtcheff S, Riches N, Fagan M, et al. Patient perspectives and experiences with in vitro fertilization and genetic testing options. Ther Adv Reprod Health. 2020;14:2633494119899942.

    PubMed  PubMed Central  Google Scholar 

  9. Pennings G, de Wert G, Shenfield F, Cohen J, et al. ESHRE Task Force on Ethics and Law 13: the welfare of the child in medically assisted reproduction. Hum Reprod. 2007;22(10):2585–8.

    Article  PubMed  CAS  Google Scholar 

  10. Van Steijvoort E, Peeters H, Vandecruys H, Verguts J, Peeraer K, Matthijs G, et al. Experiences of nonpregnant couples after receiving reproductive genetic carrier screening results in Belgium. Eur J Hum Genet. 2023:1–7. https://doi.org/10.1038/s41431-023-01310-2

  11. Van Steijvoort E, Peeters H, Vandecruys H, Verguts J, Peeraer K, Matthijs G, et al. Exploring informed choice in preconception reproductive genetic carrier screening by using a modified Multidimensional Measure of Informed Choice. Patient Educ Couns. 2022;105(11):3313–8.

    Article  PubMed  Google Scholar 

  12. Van Steijvoort E, Demuynck R, Peeters H, Vandecruys H, Verguts J, Peeraer K, et al. Reasons affecting the uptake of reproductive genetic carrier screening among nonpregnant reproductive-aged women in Flanders (Belgium). J Genet Couns. 2022;31(5):1043–53.

    Article  PubMed  Google Scholar 

  13. van Dijke I, Lakeman P, Sabiri N, Rusticus H, Ottenheim CPE, Mathijssen IB, et al. Couples’ experiences with expanded carrier screening: evaluation of a university hospital screening offer. Eur J Hum Genet. 2021;29(8):1252–8.

    Article  PubMed  PubMed Central  Google Scholar 

  14. Birnie E, Schuurmans J, Plantinga M, Abbott KM, Fenwick A, Lucassen A, et al. Couple based expanded carrier screening provided by general practitioners to couples in the Dutch general population: psychological outcomes and reproductive intentions. Genet Med. 2021;23(9):1761–8.

    Article  PubMed  PubMed Central  Google Scholar 

  15. Schuurmans J, Birnie E, Ranchor AV, Abbott KM, Fenwick A, Lucassen A, et al. GP provided couple-based expanded preconception carrier screening in the Dutch general population: who accepts the test-offer and why? Eur J Hum Genet. 2020;28(2):182–92.

    Article  PubMed  Google Scholar 

  16. Kraft SA, Schneider JL, Leo MC, Kauffman TL, Davis JV, Porter KM, et al. Patient actions and reactions after receiving negative results from expanded carrier screening. Clin Genet. 2018;93(5):962–71.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  17. Van Steijvoort E, Devolder H, Geysen I, Van Epperzeel S, Peeters H, Peeraer K, et al. Expanded carrier screening in Flanders (Belgium): an online survey on the perspectives of nonpregnant reproductive-aged women. Per Med. 2021;18(4):361–73.

    Article  PubMed  CAS  Google Scholar 

  18. Schuurmans J, Birnie E, van den Heuvel LM, Plantinga M, Lucassen A, van der Kolk DM, et al. Feasibility of couple-based expanded carrier screening offered by general practitioners. Eur J Hum Genet. 2019;27(5):691–700.

    Article  PubMed  PubMed Central  Google Scholar 

  19. Lewis C, Hill M, Skirton H, Chitty LS. Development and validation of a measure of informed choice for women undergoing non-invasive prenatal testing for aneuploidy. Eur J Hum Genet. 2016;24(6):809–16.

    Article  PubMed  Google Scholar 

  20. van den Berg M, Timmermans DR, ten Kate LP, van Vugt JM, van der Wal G. Informed decision making in the context of prenatal screening. Patient Educ Couns. 2006;63(1–2):110–7.

    Article  PubMed  Google Scholar 

  21. Marteau TM, Bekker H. The development of a six-item short-form of the state scale of the Spielberger State—Trait Anxiety Inventory (STAI). Br J Clin Psychol. 1992;31(3):301–6.

    Article  PubMed  CAS  Google Scholar 

  22. van Dijke I, Lakeman P, Sabiri N, Rusticus H, Ottenheim CPE, Mathijssen IB, et al. Couples’ experiences with expanded carrier screening: evaluation of a university hospital screening offer. Eur J Hum Genet. 2021;29(8):1252–8.

    Article  PubMed  PubMed Central  Google Scholar 

  23. Julian LJ. Measures of anxiety: State-Trait Anxiety Inventory (STAI), Beck Anxiety Inventory (BAI), and Hospital Anxiety and Depression Scale-Anxiety (HADS-A). Arthritis Care Res. 2011;63(S11):S467–72.

    Article  Google Scholar 

  24. O’Connor AM. Validation of a decisional conflict scale. Med Decis Making. 1995;15(1):25–30.

    Article  PubMed  Google Scholar 

  25. Archibald AD, McClaren BJ. Perceived relevance of genetic carrier screening: observations of the role of health-related life experiences and stage of life in decision making. J Community Genet. 2012;3(1):47–54.

    Article  PubMed  Google Scholar 

  26. Beulen L, van den Berg M, Faas BH, Feenstra I, Hageman M, van Vugt JM, et al. The effect of a decision aid on informed decision-making in the era of non-invasive prenatal testing: a randomised controlled trial. Eur J Hum Genet. 2016;24(10):1409–16.

    Article  PubMed  PubMed Central  Google Scholar 

  27. Bombard Y, Clausen M, Mighton C, Carlsson L, Casalino S, Glogowski E, et al. The Genomics ADvISER: development and usability testing of a decision aid for the selection of incidental sequencing results. Eur J Hum Genet. 2018;26(7):984–95.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  28. Halliday JL, Muller C, Charles T, Norris F, Kennedy J, Lewis S, et al. Offering pregnant women different levels of genetic information from prenatal chromosome microarray: a prospective study. Eur J Hum Genet. 2018;26(4):485–94.

    Article  PubMed  PubMed Central  Google Scholar 

  29. King E, Halliday J, Archibald AD, Delatycki M, Barlow-Stewart K, Newson AJ, et al. Development and use of the Australian reproductive genetic carrier screening decision aid. Eur J Hum Genet. 2022;30(2):194–202.

    Article  PubMed  Google Scholar 

  30. Cannon J, Van Steijvoort E, Borry P, Chokoshvili D. How does carrier status for recessive disorders influence reproductive decisions? A systematic review of the literature. Expert Rev Mol Diagn. 2019;19(12):1117–29.

    Article  PubMed  CAS  Google Scholar 

  31. Ghiossi CE, Goldberg JD, Haque IS, Lazarin GA, Wong KK. Clinical utility of expanded carrier screening: reproductive behaviors of at-risk couples. J Genet Couns. 2018;27(3):61625.

    Article  Google Scholar 

  32. Johansen Taber KA, Beauchamp KA, Lazarin GA, Muzzey D, Arjunan A, Goldberg JD. Clinical utility of expanded carrier screening: results-guided actionability and outcomes. Genet Med. 2019;21(5):1041–8.

    Article  PubMed  Google Scholar 

  33. Kauffman TL, Irving SA, Leo MC, Gilmore MJ, Himes P, McMullen CK, et al. The NextGen Study: patient motivation for participation in genome sequencing for carrier status. Mol Genet Genomic Med. 2017;5(5):508–15.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  34. Calhaz-Jorge C, De Geyter CH, Kupka MS, Wyns C, Mocanu E, Motrenko T, et al. Survey on ART and IUI: legislation, regulation, funding and registries in European countries: the European IVF-monitoring Consortium (EIM) for the European Society of Human Reproduction and Embryology (ESHRE). Hum Reprod Open. 2020;2020(1):hoz044.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  35. Harper J, Jackson E, Sermon K, Aitken RJ, Harbottle S, Mocanu E, et al. Adjuncts in the IVF laboratory: where is the evidence for ‘add-on’ interventions? Hum Reprod. 2017;32(3):485–91.

    Article  PubMed  Google Scholar 

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Acknowledgements

We would like to express our gratitude to all participants for their participation and cooperation in this study. In addition, we would like to thank the fertility specialists that helped with the recruitment of study participants.

Funding

This project was financially supported by the Research Fund Flanders (FWO) (G094518N).

Author information

Authors and Affiliations

Authors

Contributions

E.V.S., H.P., K.P., G.M. and P.B. designed the study. The data-collection was carried out by E.V.S. The data-analysis was performed by E.V.S, E.D., M.C. and C.D.S. A first draft of the manuscript was written by E.V.S. and critically discussed and revised by P.B., M.C., C.D.S., D., H.P., K.P. and G.M. P.B. coordinated the study. All the authors have approved the final version.

Corresponding author

Correspondence to Eva Van Steijvoort.

Ethics declarations

Human studies and subjects

Approval to conduct this human subjects’ research was obtained by the Research Ethics Committee UZ/KU Leuven (S63712). 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. Written informed consent for genetic testing was obtained from all individuals undergoing testing.

Animal studies

No non-human animal studies were carried out by the authors for this article.

Conflict of interest

The authors declare no competing interests.

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Van Steijvoort, E., Cassou, M., De Schutter, C. et al. Exploring attitudes and experiences with reproductive genetic carrier screening among couples seeking medically assisted reproduction: a longitudinal survey study. J Assist Reprod Genet 41, 451–464 (2024). https://doi.org/10.1007/s10815-023-03010-8

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  • DOI: https://doi.org/10.1007/s10815-023-03010-8

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