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Searching for a sense of closure: parental experiences of recontacting after a terminated pregnancy for congenital malformations

European Journal of Human Genetics volume 32, pages 673–680 (2024)Cite this article

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Abstract

Rapid advances in genetic testing have improved the probability of successful genetic diagnosis. For couples who undergo a termination of pregnancy (TOP) due to foetal congenital malformations, these techniques may reveal the underlying cause and satisfy parents’ need to know. The aim of this qualitative descriptive research study was to explore couples’ experience of being recontacted after a congenital malformation-related TOP, as well as their reasons for participation. A retrospective cohort of 31 eligible candidates was recontacted for additional genetic testing using a standardized letter followed by a telephone call. Fourteen participants (45%) were included. Data were collected through semi-structured interviews at a hospital genetics department (UZ Brussel). Interviews were audiotaped, transcribed and analysed using thematic analysis. We found that despite the sometimes considerable length of time that passed since TOP, participants were still interested in new genetic testing. They appreciated that the initiative originated from the medical team, describing it as a “sensitive” approach. Both intrinsic (providing answers for themselves and their children) and extrinsic motivators (contributing to science and helping other parents) were identified as important factors for participation. These results show that participants often remain interested in being recontacted for new genetic testing such as whole genome sequencing, even after several years. As such, the results of this study can offer guidance in the more general current debate on recontacting patients in the field of genetics.

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Fig. 1: Selection procedure for recruiting eligible participants.

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Data availability

The datasets used and/or analysed during the current study are available from the corresponding author on reasonable request.

References

  1. Lord J, McMullan DJ, Eberhardt RY, Rinck G, Hamilton SJ, Quinlan-Jones E. et al. Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study. Lancet [Internet]. 2019;393:747–57. https://doi.org/10.1016/S0140-6736(18)31940-8.

    Article  CAS  PubMed  Google Scholar 

  2. Vanakker O, Vilain C, Janssens K, Van der Aa N, Smits G, Bandelier C. et al. Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challenges. Eur J Med Genet [Internet]. 2014;57:151–6. https://doi.org/10.1016/j.ejmg.2014.02.002.

    Article  PubMed  Google Scholar 

  3. Muys J, Blaumeiser B, Jacquemyn Y, Bandelier C, Brison N, Bulk S, et al. The Belgian MicroArray Prenatal (BEMAPRE) database: A systematic nationwide repository of fetal genomic aberrations. Prenat Diagn [Internet]. 2018 ;38:1120–8. https://onlinelibrary.wiley.com/doi/full/10.1002/pd.5373.

    Article  CAS  PubMed  Google Scholar 

  4. Tolusso LK, Hazelton P, Wong B, Swarr DT. Beyond diagnostic yield: prenatal exome sequencing results in maternal, neonatal, and familial clinical management changes. Genet Med [Internet]. 2021;23:909–17.

    Article  PubMed  Google Scholar 

  5. Montaguti E, Balducci A, Perolo A, Livi A, Contro E, Casadio P, et al. Prenatal diagnosis of congenital heart defects and voluntary termination of pregnancy. Am J Obstet Gynecol MFM [Internet]. 2020;2. https://doi.org/10.1016/j.ajogmf.2020.100207.

  6. Lafarge C, Rosman S, Ville I. Pregnancy termination for fetal abnormality: Ambivalence at the heart of women’s experience. Women’s Stud Int Forum [Internet]. 2019 ;74:42–51. https://doi.org/10.1016/j.wsif.2019.02.007.

    Article  Google Scholar 

  7. European Abortion Laws. A comparative overview. Cent Reprod Rights [Internet]. 2019 https://reproductiverights.org/sites/default/files/documents/European.

  8. Lafarge C, Mitchell K, Fox P. Reproductive health matters an international journal on sexual and reproductive health and rights termination of pregnancy for fetal abnormality: a meta-ethnography of women’s experiences. Reprod Health Matters [Internet]. 2014;22:191–201. https://www.tandfonline.com/action/journalInformation?journalCode=zrhm21.

    Article  PubMed  Google Scholar 

  9. Sandelowski M, Barroso J. The travesty of choosing after positive prenatal diagnosis. J Obstet Gynecol Neonatal Nurs [Internet]. 2005 ;34:307–18. https://doi.org/10.1177/0884217505276291.

    Article  PubMed  Google Scholar 

  10. Rillstone P, Hutchinson SA. Pregnancy after a loss due to anomalies. J Obstet Gynecol Neonatal Nurs [Internet]. 2001;30:291–8. https://doi.org/10.1177/088421701129004139.

    Article  CAS  PubMed  Google Scholar 

  11. Plantinga M, Zwienenberg L, van Dijk E, Breet H, Diphoorn J, El Mecky J, et al. Parental experiences of rapid exome sequencing in cases with major ultrasound anomalies during pregnancy. Prenat Diagn [Internet]. 2022;42:762–74. https://onlinelibrary.wiley.com/doi/full/10.1002/pd.6056.

    Article  PubMed  Google Scholar 

  12. Carrieri D, Howard HC, Benjamin C, Clarke AJ, Dheensa S, Doheny S, et al. Recontacting patients in clinical genetics services: recommendations of the European society of human genetics. Eur J Hum Genet [Internet]. 2019 ;27:169–82. https://doi.org/10.1038/s41431-018-0285-1.

    Article  PubMed  Google Scholar 

  13. Sirchia F, Carrieri D, Dheensa S, Benjamin C, Kayserili H, Cordier C, et al. Recontacting or not recontacting? A survey of current practices in clinical genetics centres in Europe. Eur J Hum Genet [Internet]. 2018;26:946–54. https://doi.org/10.1038/s41431-018-0131-5.

    Article  PubMed  Google Scholar 

  14. Hunter A, Sharpe NF, Mullen, Meschino W. Ethical, legal, and practical concerns about recontacting patients to inform them of new information: the case in medical genetics. Am J Med Genet. 2001;265–76. https://pubmed.ncbi.nlm.nih.gov/11746004/.

  15. Fitzpatrick JL, Hahn C, Costa T, Huggins MJ. The duty to recontact: attittudes of genetics service providers. Am J Hum Genet [Internet]. 1999;64:852–60. https://doi.org/10.1086/302293.

    Article  CAS  PubMed  Google Scholar 

  16. Giesbertz NAA, van Harten WH, Bredenoord AL. A duty to recontact in genetics: context matters. Nat Rev Genet 2019 207 [Internet]. 2019 ;20:371–2. https://www.nature.com/articles/s41576-019-0121-7.

    CAS  Google Scholar 

  17. Otten E, Plantinga M, Birnie E, Verkerk MA, Lucassen AM, Ranchor AV, et al. Is there a duty to recontact in light of new genetic technologies? A systematic review of the literature. Genet Med [Internet]. 2015;17:668–78. https://doi.org/10.1038/gim.2014.173.

    Article  CAS  PubMed  Google Scholar 

  18. Beunders G, Dekker M, Haver O, Meijers-Heijboer HJ, Henneman L. Recontacting in light of new genetic diagnostic techniques for patients with intellectual disability: Feasibility and parental perspectives. Eur J Med Genet [Internet]. 2018 ;61:213–8. https://doi.org/10.1016/j.ejmg.2017.11.017.

    Article  PubMed  Google Scholar 

  19. Sexton AC, Sahhar M, Thorburn DR, Metcalfe SA. Impact of a genetic diagnosis of a mitochondrial disorder 5–17 years after the death of an affected child. J Genet Couns [Internet]. 2008;17:261–73. http://doi.wiley.com/10.1007/s10897-007-9145-9.

    Article  CAS  PubMed  Google Scholar 

  20. Velthuizen ME, van der Luijt RB, de Vries BJ, Koudijs MJ, Bleiker EMA, Ausems MGEM. Recontacting non-BRCA1/2 breast cancer patients for germline CHEK2 c.1100del pathogenic variant testing: uptake and patient experiences. Hered Cancer Clin Pr [Internet]. 2021;19:1–9. https://hccpjournal.biomedcentral.com/articles/10.1186/s13053-021-00166-1.

    Google Scholar 

  21. Carrieri D, Dheensa S, Doheny S, Clarke AJ, Turnpenny PD, Lucassen AM, et al. Recontacting in clinical practice: The views and expectations of patients in the United Kingdom. Eur J Hum Genet [Internet]. 2017;25:1106–12. www.nature.com/ejhg.

    Article  PubMed  Google Scholar 

  22. Dheensa S, Carrieri D, Kelly S, Clarke A, Doheny S, Turnpenny P, et al. A “joint venture” model of recontacting in clinical genomics: challenges for responsible implementation. Eur J Med Genet. 2017;60:403–9.

    Article  PubMed  Google Scholar 

  23. Dufrasne S, Roy M, Galvez M, Rosenblatt DS. Experience over fifteen years with a protocol for predictive testing for Huntington disease. Mol Genet Metab [Internet]. 2011;102:494–504. https://doi.org/10.1016/j.ymgme.2010.12.001.

    Article  CAS  PubMed  Google Scholar 

  24. Clark S, Bluman LG, Borstelmann N, Regan K, Winer EP, Rimer BK, et al. Patient motivation, satisfaction, and coping in genetic counseling and testing for BRCA1 and BRCA2. J Genet Couns. 1999;9. https://doi.org/10.1023/A:1009463905057.

  25. Erskine KE, Hidayatallah NZ, Walsh CA, Mcdonald TV, Cohen L, Marion RW, et al. Motivation to Pursue Genetic Testing in Individuals with a Personal or Family History of Cardiac Events or Sudden Cardiac Death. J Genet Couns [Internet]. 2014;23:849–59. https://doi.org/10.1007/s10897-014-9707-6.

    Article  PubMed  Google Scholar 

  26. Caelli K, Ray L, Mill J. ‘Clear as Mud’: toward greater clarity in generic qualitative research. [Internet]. 2016;2:1–13. https://journals.sagepub.com/doi/10.1177/160940690300200201.

  27. Braun V, Clarke V. Using thematic analysis in psychology. Qual Res Psychol [Internet] 2006;3:77–101. https://doi.org/10.1191/1478088706qp063oa.

    Article  Google Scholar 

  28. Rosenthal ET, Biesecker LG, Biesecker BB. Parental attitudes toward a diagnosis in children with unidenti®ed multiple congenital anomaly syndromes [Internet]. Am J Med Genet. 2001;103. https://doi.org/10.1002/ajmg.1527.

  29. Fraiman YS, Wojcik MH. The influence of social determinants of health on the genetic diagnostic odyssey: who remains undiagnosed, why, and to what effect? Pediatr Res [Internet]. 2021. https://doi.org/10.1038/s41390-020-01151-5.

  30. Spillmann RC, McConkie-Rosell A, Pena L, Jiang YH, Schoch K, Walley N, et al. A window into living with an undiagnosed disease: illness narratives from the undiagnosed diseases network. Orphanet J Rare Dis [Internet]. 2017;12. https://doi.org/10.1186/s13023-017-0623-3.

  31. Mcconkie-Rosell A, Hooper SR, Pena LDM, Schoch K, Spillmann RC, Jiang Y-H, et al. Psychosocial profiles of parents of children with undiagnosed diseases: managing well or just managing? J Genet Couns [Internet]. 2018;27:935–46. https://doi.org/10.1007/s10897-017-0193-5.

    Article  PubMed  Google Scholar 

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Acknowledgements

The authors would like to thank the study participants, we appreciate their willingness to share their experiences with us. Furthermore we thank the teams of Medical Genetics and Prenatal Ultrasound of the UZ Brussel. Special thanks to Chris Winter and Florence Belva for their critical revisions during the writing of this manuscript.

Funding

This study is part of the Igencare study financed by INNOVIRIS (Brussels institution for research and development). The funders had no role in the design, analysis or writing of this article.

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Authors and Affiliations

  1. Vrije Universiteit Brussel (VUB), Universitair Ziekenhuis Brussel (UZ Brussel), Clinical Sciences, Research Group Reproduction and Genetics, Centre for Medical Genetics, Brussels, Belgium

    Ileen Slegers, Kathelijn Keymolen, Kim Van Berkel, Boyan Dimitrov, Rani Cooreman & Frederik Hes

  2. Vrije Universiteit Brussel (VUB), Universitair Ziekenhuis Brussel (UZ Brussel), Clinical Sciences, Research Group Reproduction and Genetics, Brussels Interuniversity Genomics High Throughput Core (BRIGHTcore), Brussels, Belgium

    Sonia Van Dooren

  3. Department of Public Health Sciences, Biostatistics and Medical Informatics (BISI) Research Group, Vrije Universiteit Brussel, Brussels, Belgium and Department of Teacher Education, Vrije Universiteit Brussel, Brussels, Belgium

    Maaike Fobelets

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  1. Ileen Slegers
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Contributions

All authors contributed to the manuscript, all authors read and approved the final manuscript. IS was responsible for designing and writing the study protocol, data collection, analysing the data, interpreting the results and writing the manuscript. KVB assisted with data collection. RC played an important role in interpreting the data and revising the results. KK, FH and SVD revised the manuscript. MF supervised the methods, data interpretation and revision of the manuscript. SVD, FH, KK and IS designed the Igencare study.

Corresponding author

Correspondence to Ileen Slegers.

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The ethical committee of the UZ Brussel approved this study (B.U.N.143201838127).

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The authors declare no competing interests.

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Slegers, I., Keymolen, K., Van Berkel, K. et al. Searching for a sense of closure: parental experiences of recontacting after a terminated pregnancy for congenital malformations. Eur J Hum Genet 32, 673–680 (2024). https://doi.org/10.1038/s41431-023-01375-z

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