Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • Article
  • Published:

Experiences of nonpregnant couples after receiving reproductive genetic carrier screening results in Belgium

Abstract

Reproductive genetic carrier screening (RGCS) allows for the identification of couples who have an increased likelihood of conceiving a child with a particular autosomal recessive or X-linked condition. The aim of this study was to assess the level of satisfaction, anxiety, knowledge retention, psychosocial and counseling-related aspects among couples who chose to have RGCS. Participants were initially informed about their screening results by telephone. After obtaining a written report of test results, participants were asked to complete an individual self-administered questionnaire. All participants (n = 67) felt they had enough information to make an informed choice. None of the participants regretted their choice to have RGCS. Test results were most often shared with parents (61%) or siblings (37%). Our findings demonstrate that the information/counseling and reporting strategy that was used in the context of this study led to high participant satisfaction, an increase in knowledge over time and favorable psychosocial and counseling-related outcomes.

This is a preview of subscription content, access via your institution

Access options

Buy this article

USD 39.95

Prices may be subject to local taxes which are calculated during checkout

Similar content being viewed by others

Data availability

The data that support the findings of this study are available from the corresponding author upon reasonable request.

References

  1. Henneman L, Borry P, Chokoshvili D, Cornel MC, van El CG, Forzano F, et al. Responsible implementation of expanded carrier screening. Eur J Hum Genet. 2016;24:e1–e12.

    ArticleĀ  PubMedĀ  PubMed CentralĀ  Google ScholarĀ 

  2. 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 Coun. 2022;31:1043–53. n/a(n/a)

    ArticleĀ  Google ScholarĀ 

  3. 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;105:3313–8.

    ArticleĀ  PubMedĀ  Google ScholarĀ 

  4. 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;23:1761–8.

    ArticleĀ  PubMedĀ  PubMed CentralĀ  Google ScholarĀ 

  5. 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;29:1252–8.

    ArticleĀ  PubMedĀ  PubMed CentralĀ  Google ScholarĀ 

  6. 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;93:962–71.

    ArticleĀ  CASĀ  PubMedĀ  PubMed CentralĀ  Google ScholarĀ 

  7. 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. Personal Med. 2021;18:361–73.

    ArticleĀ  CASĀ  Google ScholarĀ 

  8. Van Steijvoort E, Devolder H, Geysen I, Van Epperzeel S, Peeters H, Peeraer K, et al. Knowledge, attitudes and preferences regarding reproductive genetic carrier screening among reproductive-aged men and women in Flanders (Belgium). Eur J Hum Genet. 2022;30:1255–61.

    ArticleĀ  PubMedĀ  Google ScholarĀ 

  9. 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;31:301–6.

    ArticleĀ  CASĀ  PubMedĀ  Google ScholarĀ 

  10. 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 (Hoboken). 2011;63:S467–72.

    ArticleĀ  PubMedĀ  Google ScholarĀ 

  11. 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;27:691–700.

    ArticleĀ  PubMedĀ  PubMed CentralĀ  Google ScholarĀ 

  12. van der Bij AK, de Weerd S, Cikot RJ, Steegers EA, Braspenning JC. Validation of the dutch short form of the state scale of the Spielberger State-Trait Anxiety Inventory: considerations for usage in screening outcomes. Community Genet. 2003;6:84–7.

    PubMedĀ  Google ScholarĀ 

  13. Marteau TM, Dormandy E, Michie S. A measure of informed choice. Health Expect. 2001;4:99–108.

    ArticleĀ  CASĀ  PubMedĀ  PubMed CentralĀ  Google ScholarĀ 

  14. Dive L, Newson AJ. Ethics of reproductive genetic carrier screening: from the clinic to the population. Public Health Ethics. 2021;14:202–17.

    ArticleĀ  PubMedĀ  PubMed CentralĀ  Google ScholarĀ 

  15. Barlow-Stewart K, Burnett L, Proos A, Howell V, Huq F, Lazarus R, et al. A genetic screening programme for Tay-Sachs disease and cystic fibrosis for Australian Jewish high school students. J Med Genet. 2003;40:e45.

    ArticleĀ  CASĀ  PubMedĀ  PubMed CentralĀ  Google ScholarĀ 

  16. Gordon C, Walpole I, Zubrick SR, Bower C. Population screening for cystic fibrosis: knowledge and emotional consequences 18 months later. Am J Med Genet Part A. 2003;120A:199–208.

    ArticleĀ  PubMedĀ  Google ScholarĀ 

  17. Henneman L, Bramsen I, van der Ploeg HM, ten Kate LP. Preconception cystic fibrosis carrier couple screening: impact, understanding, and satisfaction. Genet Test. 2002;6:195–202.

    ArticleĀ  CASĀ  PubMedĀ  Google ScholarĀ 

  18. Gorrie A, Archibald AD, Ioannou L, Curnow L, McClaren B. Exploring approaches to facilitate family communication of genetic risk information after cystic fibrosis population carrier screening. J Commun Genet. 2018;9:71–80.

    ArticleĀ  Google ScholarĀ 

  19. McClaren BJ, Aitken M, Massie J, Amor D, Ukoumunne OC, Metcalfe SA. Cascade carrier testing after a child is diagnosed with cystic fibrosis through newborn screening: investigating why most relatives do not have testing. Genet Med. 2013;15:533–40.

    ArticleĀ  PubMedĀ  Google ScholarĀ 

  20. Silver J, Norton ME. Expanded carrier screening and the complexity of implementation. Obstet Gynecol. 2021;137:345–50.

    ArticleĀ  PubMedĀ  Google ScholarĀ 

Download references

Acknowledgements

The authors would like to thank all individuals that participated in this study. In addition, they would like to express their gratitude to the team of gynecologists who have contributed to this study.

Funding

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

Author information

Authors and Affiliations

Authors

Contributions

EVS, HP, HV, JV, KP, GM, and PB designed the study. The data collection was carried out by EVS. The data analysis was performed by EVS. A first draft of the manuscript was written by EVS and critically discussed and revised by PB, HP, HV, JV, KP, and GM. PB coordinated the study. All the authors have approved the final version.

Corresponding author

Correspondence to Eva Van Steijvoort.

Ethics declarations

Competing interests

EVS, HP, HV, JV, KP, GM, and PB declare that they have no conflict of interest.

Additional information

Publisher’s note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Supplementary information

Rights and permissions

Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law.

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Van Steijvoort, E., Peeters, H., Vandecruys, H. et al. Experiences of nonpregnant couples after receiving reproductive genetic carrier screening results in Belgium. Eur J Hum Genet 31, 696–702 (2023). https://doi.org/10.1038/s41431-023-01310-2

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Version of record:

  • Issue date:

  • DOI: https://doi.org/10.1038/s41431-023-01310-2

This article is cited by

Search

Quick links