Factors Influencing the Decision-Making Process and Long-Term Interpersonal Outcomes for Parents Who Undergo Preimplantation Genetic Diagnosis for Fanconi Anemia: a Qualitative Investigation
- 346 Downloads
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.
KeywordsFanconi anemia Parents Preimplantation genetic diagnosis Human leukocyte antigen Decision-making Long-term interpersonal outcomes Decisional regret
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.
Compliance with Ethical Standards
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.
This article does not contain any studies with animals performed by any of the authors.
- Almendrala, A. (2016). 12 Celebrities who have opened up about IVF and surrogacy. Huffingt. Post.Google Scholar
- Baetens, P., Van de Velde, H., Camus, M., Pennings, G., van Steirteghem, A., Devroey, P., & Liebaers, I. (2005). HLA-matched embryos selected for siblings requiring haematopoietic stem cell transplantation: a psychological perspective. Reproductive Biomedicine Online, 10, 154–163.CrossRefPubMedGoogle Scholar
- Baruch, S. (2008). Preimplantation genetic diagnosis and parental preferences: beyond deadly disease. Houst. J. Health Law Policy, 245–270.Google Scholar
- Belkin, L. (2001). The Made-to-Order Savior: Producing a Perfect Baby Sibling. New York Times Magazine. http://www.nytimes.com/2001/07/01/magazine/the-made-toorder-savior.html?_r=0. Accessed 8 November 2016.
- Beukers, F., Houtzager, B. A., Paap, M. C. S., Middelburg, K. J., Hadders-Algra, M., Bos, A. F., & Kok, J. H. (2012). Parental psychological distress and anxiety after a successful IVF/ICSI procedure with and without preimplantation genetic screening: follow-up of a randomised controlled trial. Early Human Development, 88, 725–730.CrossRefPubMedGoogle Scholar
- Gluckman, E., Auerbach, A. D., Horowitz, M. M., Sobocinski, K. A., Ash, R. C., Bortin, M. M., Butturini, A., Camitta, B. M., Champlin, R. E., Friedrich, W., Good, R. A., Gordon-Smith, E. C., Harris, R. E., Klein, J. P., Ortega, J. J., Pasquini, R., Ramsay, N. K., Speck, B., Vowels, M. R., Zhang, M. J., & Gale, R. P. (1995). Bone marrow transplantation for fanconi anemia. Blood, 86, 2856–2862.PubMedGoogle Scholar
- Grewal, S. S., Kahn, J. P., MacMillan, M. L., Ramsay, N. K. C., & Wagner, J. E. (2004). Successful hematopoietic stem cell transplantation for fanconi anemia from an unaffected HLA-genotype-identical sibling selected using preimplantation genetic diagnosis. Blood, 103, 1147–1151.CrossRefPubMedGoogle Scholar
- Guardiola, P., Pasquini, R., Dokal, I., Ortega, J. J., van Weel-Sipman, M., Marsh, J. C., Ball, S. E., Locatelli, F., Vermylen, C., Skinner, R., Ljungman, P., Miniero, R., Shaw, P. J., Souillet, G., Michallet, M., Bekassy, A. N., Krivan, G., Di Bartolomeo, P., Heilmann, C., Zanesco, L., Cahn, J. Y., Arcese, W., Bacigalupo, A., & Gluckman, E. (2000). Outcome of 69 allogeneic stem cell transplantations for fanconi anemia using HLA-matched unrelated donors: a study on behalf of the European Group for Blood and Marrow Transplantation. Blood, 95, 422–429.PubMedGoogle Scholar
- Kroenke, C. H., Kwan, M. L., Neugut, A. I., Ergas, I. J., Wright, J. D., Caan, B. J., Hershman, D., & Kushi, L. H. (2013). Social networks, social support mechanisms, and quality of life after breast cancer diagnosis. Breast Cancer Research and Treatment, 139, 515–527.CrossRefPubMedPubMedCentralGoogle Scholar
- Popovsky, M. (2007). Jewish perspectives on the use of preimplantation genetic diagnosis. The Journal of Law, Medicine & Ethics, 35(699–711), 513.Google Scholar
- Quittner, A. L., Goldbeck, L., Abbott, J., Duff, A., Lambrecht, P., Solé, A., Tibosch, M. M., Bergsten Brucefors, A., Yüksel, H., Catastini, P., Blackwell, L., & Barker, D. (2014). Prevalence of depression and anxiety in patients with cystic fibrosis and parent caregivers: results of the international depression epidemiological study across nine countries. Thorax, 69, 1090–1097.CrossRefPubMedGoogle Scholar
- Rechitsky, S, Kuliev, A, Sharapova, T, Barsky, I, Verlinsky, O, Tur-Kaspa, I, Verlinsky, Y. 2009. PGD impact on stem cell transplantation. Reprod. Biomed. Online 18: S-2.Google Scholar
- Silverman, D. (1993). Interpreting qualitative data: methods for analyzing talk, text and interaction. Thousand Oaks: SAGE Publications.Google Scholar
- Smith, A., & Wagner, J. (2012). Current clinical management of Fanconi anemia. Expert Review of Hematology, 5(5), 513–522.Google Scholar
- Steinbock, B. (2003). Using Preimplantation Genetic Diagnosis to Save a Sibling: The Story of Molly and Adam Nash. In: Ethical Issues in Modern Medicine, 6the. McGraw-Hill, p 544–545.Google Scholar
- Storrs, C. (2016). Should parents be allowed to choose the sex of their baby? CNN.Google Scholar
- Tan, P.-L., Wagner, J. E., Auerbach, A. D., Defor, T. E., Slungaard, A., & Macmillan, M. L. (2006). Successful engraftment without radiation after fludarabine-based regimen in fanconi anemia patients undergoing genotypically identical donor hematopoietic cell transplantation. Pediatr. Blood Cancer, 46, 630–636.CrossRefGoogle Scholar
- Taylor-Sands, M. (2010). Saviour siblings and collective family interests. Monash Bioethics Review, 20, 12.1–1215.Google Scholar
- Winter, C., Van Acker, F., Bonduelle, M., Desmyttere, S., & Nekkebroeck, J. (2015). Psychosocial development of full term singletons, born after preimplantation genetic diagnosis (PGD) at preschool age and family functioning: a prospective case-controlled study and multi-informant approach. Human Reproduction, 30, 1122–1136.CrossRefPubMedGoogle Scholar