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Factors Influencing the Decision-Making Process and Long-Term Interpersonal Outcomes for Parents Who Undergo Preimplantation Genetic Diagnosis for Fanconi Anemia: a Qualitative Investigation

  • Original Research
  • Published:
Journal of Genetic Counseling

Abstract

Fanconi anemia (FA) is characterized by congenital malformations, progressive bone marrow failure, and predisposition to malignancy. Hematopoietic stem cell transplantation is used to treat FA, and best results are attained with sibling donors who are human leukocyte antigen (HLA) identical matches. Preimplantation genetic diagnosis (PGD) offers parents of an affected child the opportunity to have an unaffected child who is an HLA match. While some research has investigated parents’ experiences during the PGD process, no published studies specifically address factors influencing their decision-making process and long-term interpersonal outcomes. The aims of this study are to: (1) examine parents’ expectations and the influence of media, bioethics, and religion on their decision to undergo PGD; (2) examine parents’ social support and emotional experiences during their PGD process; and (3) characterize long-term effects of PGD on relationship dynamics (partner, family, friends), others’ attitudes, and parental regret. Nine parents participated in semi-structured interviews. Thematic analysis revealed their decision to use PGD was variously influenced by media, bioethics, and religion, in particular, affecting parents’ initial confidence levels. Moreover, the PGD process was emotionally complex, with parents desiring varying amounts and types of support from different sources at different times. Parents reported others’ attitudes towards them were similar or no different than before PGD. Parental regret regarding PGD was negligible. Results of this study will promote optimization of long-term care for FA families.

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Acknowledgments

We would like to thank the FARF and the parents who took the time to participate in this study, as well as the National Society of Genetic Counselors Research Special Interest Group who provided partial funds for this project.

This study was completed in partial fulfillment of the requirements for the first author’s Masters of Science degree from the University of Minnesota.

Dr. Christina Palmer served as Action Editor on the manuscript review process and publication decision.

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Authors and Affiliations

  1. GeneDx, Gaithersburg, MD, USA

    K. Haude

  2. Department of Genetics, Cell Biology, and Development, University of Minnesota - Twin Cities, 321 Church Street SE, Jackson Hall, Minneapolis, MN, 55455, USA

    P. McCarthy Veach, B. LeRoy & H. Zierhut

Authors
  1. K. Haude
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  2. P. McCarthy Veach
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  3. B. LeRoy
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  4. H. Zierhut
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Corresponding author

Correspondence to H. Zierhut.

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Conflict of Interest

Heather Zierhut, Patricia McCarthy Veach, Bonnie Leroy, and Katrina Haude declare that they have no conflict of interest.

Human Studies and Informed Consent

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards. Informed consent was obtained from all individual participants included in the study.

Animal Studies

This article does not contain any studies with animals performed by any of the authors.

Appendix

Appendix

Telephone Interview Questions

Why don’t we start by you telling me a little bit about your experience with PGD? How would you describe your journey? [What was the most difficult aspect? What was the most rewarding aspect?]

Questions relating to expectations and outcomes.

  1. 1)

    Thinking back to when you were beginning your PGD process, how confident were you that you were going to conceive a healthy child? (10 = extremely confident, 0 = not at all confident).

  2. 2)

    Did this confidence (or hopefulness) change during the PGD process? Elaborate please.

  3. 3)

    What did success mean to you before, during, and after the PGD process? Was an HLA match imperative for your situation?

  4. 4)

    How did your feelings change throughout the process?

  5. 5)

    Thinking about everything that you went through, what would you tell yourself if you could go back? Things you’d do differently or wish you knew?

Questions focusing on family dynamics.

  1. 1)

    How has PGD affected your relationships? With your partner? Children? Family? Friends?

  2. 2)

    How has your family been impacted? Has it changed?

  3. 3)

    How did your family and/or friends have an impact during and after the PGD process?

Questions focusing on psychosocial aspects of the PGD process.

  1. 1)

    When did you need the most support? Where did you gain support during the process?

  2. 2)

    What experiences did you have with outside influences such as the media during your PGD process? Religion? Ethics? Or Doctors? (Did you have any really negative or positive interactions?)

  3. 3)

    Do/did you get treated differently after conceiving a child through PGD

Is there anything else you’d like to mention that we haven’t talked about? Advice to other families going through the process?

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Haude, K., McCarthy Veach, P., LeRoy, B. et al. Factors Influencing the Decision-Making Process and Long-Term Interpersonal Outcomes for Parents Who Undergo Preimplantation Genetic Diagnosis for Fanconi Anemia: a Qualitative Investigation. J Genet Counsel 26, 640–655 (2017). https://doi.org/10.1007/s10897-016-0032-0

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