title: Factors Influencing the Decision-Making Process and Long-Term Interpersonal Outcomes for Parents Who Undergo Preimplantation Genetic Diagnosis for Fanconi Anemia: a Qualitative Investigation.
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.
authors.affiliation: GeneDx, Gaithersburg, MD, USA.
authors.forename: K
authors.initials: K
authors.lastname: Haude
authors.affiliation: Department of Genetics, Cell Biology, and Development, University of Minnesota - Twin Cities, 321 Church Street SE, Jackson Hall, Minneapolis, MN, 55455, USA.
authors.forename: P
authors.initials: P
authors.lastname: McCarthy Veach
authors.affiliation: Department of Genetics, Cell Biology, and Development, University of Minnesota - Twin Cities, 321 Church Street SE, Jackson Hall, Minneapolis, MN, 55455, USA.
authors.forename: B
authors.initials: B
authors.lastname: LeRoy
authors.affiliation: Department of Genetics, Cell Biology, and Development, University of Minnesota - Twin Cities, 321 Church Street SE, Jackson Hall, Minneapolis, MN, 55455, USA. zier0034@umn.edu.
authors.forename: H
authors.identifier: http://orcid.org/0000-0003-1941-664X
authors.initials: H
authors.lastname: Zierhut
mesh_terms: D000328:Adult; D003657:Decision Making; D005199:Fanconi Anemia / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D010290:Parents / Q000523:psychology; D011247:Pregnancy; D019836:Preimplantation Diagnosis / Q000523:psychology; D036301:Qualitative Research
keywords: Decision-making; Decisional regret; Fanconi anemia; Human leukocyte antigen; Long-term interpersonal outcomes; Parents; Preimplantation genetic diagnosis