Journal of Genetic Counseling

, Volume 26, Issue 3, pp 640–655 | Cite as

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

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.

Keywords

Fanconi anemia Parents Preimplantation genetic diagnosis Human leukocyte antigen Decision-making Long-term interpersonal outcomes Decisional regret 

Notes

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.

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.

Animal Studies

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

References

  1. Almendrala, A. (2016). 12 Celebrities who have opened up about IVF and surrogacy. Huffingt. Post.Google Scholar
  2. 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
  3. Barakat, L. P., Alderfer, M. A., & Kazak, A. E. (2006). Posttraumatic growth in adolescent survivors of cancer and their mothers and fathers. Journal of Pediatric Psychology, 31, 413–419.CrossRefPubMedGoogle Scholar
  4. Baruch, S. (2008). Preimplantation genetic diagnosis and parental preferences: beyond deadly disease. Houst. J. Health Law Policy, 245–270.Google Scholar
  5. Basille, C., Frydman, R., El Aly, A., Hesters, L., Fanchin, R., Tachdjian, G., Steffann, J., LeLorc’h, M., & Achour-Frydman, N. (2009). Preimplantation genetic diagnosis: state of the art. European Journal of Obstetrics, Gynecology, and Reproductive Biology, 145, 9–13.CrossRefPubMedGoogle Scholar
  6. 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.
  7. 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
  8. Doolin, B., & Motion, J. (2010). Christian lay understandings of preimplantation genetic diagnosis. Public Understanding of Science, 19, 669–685.CrossRefPubMedGoogle Scholar
  9. Eugster, A., & Vingerhoets, A. J. (1999). Psychological aspects of in vitro fertilization: a review. Social Science & Medicine, 48, 575–589.CrossRefGoogle Scholar
  10. Gameiro, S., Boivin, J., Peronace, L., & Verhaak, C. M. (2012). Why do patients discontinue fertility treatment? A systematic review of reasons and predictors of discontinuation in fertility treatment. Human Reproduction Update, 18, 652–669.CrossRefPubMedPubMedCentralGoogle Scholar
  11. 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
  12. Goossens, V., Harton, G., Moutou, C., Scriven, P. N., Traeger-Synodinos, J., Sermon, K., & Harper, J. C. (2008). ESHRE PGD consortium data collection VIII: cycles from January to December 2005 with pregnancy follow-up to October 2006. Human Reproduction, 23, 2629–2645.CrossRefPubMedGoogle Scholar
  13. 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
  14. 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
  15. Karatas, J. C., Barlow-Stewart, K., Meiser, B., McMahon, C., Strong, K. A., Hill, W., Roberts, C., & Kelly, P. (2010a). Psychological adjustment, knowledge and unmet information needs in women undergoing PGD. Human Reproduction, 25, 1481–1489.CrossRefPubMedGoogle Scholar
  16. Karatas, J. C., Barlow-Stewart, K., Strong, K. A., Meiser, B., McMahon, C., & Roberts, C. (2010b). Women’s experience of pre-implantation genetic diagnosis: a qualitative study. Prenatal Diagnosis, 30, 771–777.CrossRefPubMedGoogle Scholar
  17. Karatas, J. C., Barlow-Stewart, K., Meiser, B., McMahon, C., Strong, K. A., Hill, W., Roberts, C., & Kelly, P. J. (2011). A prospective study assessing anxiety, depression and maternal-fetal attachment in women using PGD. Human Reproduction, 26, 148–156.CrossRefPubMedGoogle Scholar
  18. Kee, Y., & D’Andrea, A. D. (2012). Molecular pathogenesis and clinical management of fanconi anemia. The Journal of Clinical Investigation, 122, 3799–3806.CrossRefPubMedPubMedCentralGoogle Scholar
  19. 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
  20. Kuliev, A., & Verlinsky, Y. (2005). Place of preimplantation diagnosis in genetic practice. American Journal of Medical Genetics, 134(A), 105–110.CrossRefGoogle Scholar
  21. Lai, A. T. Y. (2011). To be or not to be my sister’s keeper? A revised leagal framework safeguarding savior siblings’ welfare. The Journal of Legal Medicine, 32, 261–293.CrossRefPubMedGoogle Scholar
  22. Lavery, S. A., Aurell, R., Turner, C., Castello, C., Veiga, A., Barri, P. N., & Winston, R. M. (2002). Preimplantation genetic diagnosis: patients’ experiences and attitudes. Human Reproduction, 17, 2464–2467.CrossRefPubMedGoogle Scholar
  23. MacMillan, M. L., DeFor, T. E., Young, J.-A. H., Dusenbery, K. E., Blazar, B. R., Slungaard, A., Zierhut, H., Weisdorf, D. J., & Wagner, J. E. (2015). Alternative donor hematopoietic cell transplantation for fanconi anemia. Blood, 125, 3798–3804.CrossRefPubMedPubMedCentralGoogle Scholar
  24. Omurtag, K., Jimenez, P. T., Ratts, V., Odem, R., & Cooper, A. R. (2012). The ART of social networking: how SART member clinics are connecting with patients online. Fertility and Sterility, 97, 88–94.CrossRefPubMedGoogle Scholar
  25. Popovsky, M. (2007). Jewish perspectives on the use of preimplantation genetic diagnosis. The Journal of Law, Medicine & Ethics, 35(699–711), 513.Google Scholar
  26. 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
  27. 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
  28. Rosenberg, P. S., Tamary, H., & Alter, B. P. (2011). How high are carrier frequencies of rare recessive syndromes? Contemporary estimates for fanconi anemia in the United States and Israel. American Journal of Medical Genetics. Part A, 155A, 1877–1883.CrossRefPubMedGoogle Scholar
  29. Sheldon, S., & Wilkinson, S. (2004). Should selecting saviour siblings be banned? Journal of Medical Ethics, 30, 533–537.CrossRefPubMedPubMedCentralGoogle Scholar
  30. Silverman, D. (1993). Interpreting qualitative data: methods for analyzing talk, text and interaction. Thousand Oaks: SAGE Publications.Google Scholar
  31. Smith, A., & Wagner, J. (2012). Current clinical management of Fanconi anemia. Expert Review of Hematology, 5(5), 513–522.Google Scholar
  32. 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
  33. Storrs, C. (2016). Should parents be allowed to choose the sex of their baby? CNN.Google Scholar
  34. Strong, K. A., Jordens, C. F., Kerridge, I. H., Little, J. M., & Ankeny, R. A. (2011). It’s time to reframe the savior sibling debate. AJOB Primary Research, 2, 13–25.CrossRefGoogle Scholar
  35. Strong, K., Kerridge, I., & Little, M. (2014). Savior siblings, parenting and the moral valorization of children. Bioethics, 28, 187–193.CrossRefPubMedGoogle Scholar
  36. 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
  37. Taylor-Sands, M. (2010). Saviour siblings and collective family interests. Monash Bioethics Review, 20, 12.1–1215.Google Scholar
  38. Telepak, L. C., Jensen, S. E., Dodd, S. M., Morgan, L. S., & Pereira, D. B. (2014). Psychosocial factors and mortality in women with early stage endometrial cancer. British Journal of Health Psychology, 19, 737–750.CrossRefPubMedGoogle Scholar
  39. Ussher, J., Kirsten, L., Butow, P., & Sandoval, M. (2006). What do cancer support groups provide which other supportive relationships do not? The experience of peer support groups for people with cancer. Social Science & Medicine, 62, 2565–2576.CrossRefGoogle Scholar
  40. Waxler-Morrison, N., Hislop, T. G., Mears, B., & Kan, L. (1991). Effects of social relationships on survival for women with breast cancer: a prospective study. Social Science & Medicine, 33, 177–183.CrossRefGoogle Scholar
  41. 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
  42. Winter, C., Van Acker, F., Bonduelle, M., Van Berkel, K., Belva, F., Liebaers, I., & Nekkebroeck, J. (2016). Depression, pregnancy-related anxiety and parental-antenatal attachment in couples using preimplantation genetic diagnosis. Human Reproduction, 31, 1288–1299.CrossRefPubMedGoogle Scholar
  43. Zierhut, H. A., & Bartels, D. M. (2012). Waiting for the next shoe to drop: the experience of parents of children with fanconi anemia. Journal of Genetic Counseling, 21, 45–58.CrossRefPubMedGoogle Scholar
  44. Zierhut, H., MacMillan, M. L., Wagner, J. E., & Bartels, D. M. (2013). More than 10 years after the first “savior siblings”: parental experiences surrounding preimplantation genetic diagnosis. Journal of Genetic Counseling, 22, 594–602.CrossRefPubMedGoogle Scholar

Copyright information

© National Society of Genetic Counselors, Inc. 2016

Authors and Affiliations

  1. 1.GeneDxGaithersburgUSA
  2. 2.Department of Genetics, Cell Biology, and DevelopmentUniversity of Minnesota - Twin CitiesMinneapolisUSA

Personalised recommendations