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Exploring the Reproductive Choices and Family Planning Experiences of Women who have MELAS: A Qualitative Study

Rhine, Maria (2022) Exploring the Reproductive Choices and Family Planning Experiences of Women who have MELAS: A Qualitative Study. Master's Thesis, University of Pittsburgh. (Unpublished)

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Mitochondria are cellular structures that are the powerhouses of the cell due to the large amounts of cellular energy that they produce. A harmful mutation in a mtDNA gene can cause mitochondrial conditions which have genetic complexities related to unique challenges around diagnosis, inheritance, and family planning. While much research has been done on the genetic complexities (heteroplasmy, threshold effect, genetic bottleneck) and reproductive options (oocyte donation and mitochondrial replacement therapy) related to mitochondrial conditions, there have been few studies on the psychosocial implications of receiving a diagnosis, how the diagnosis impacts family planning, or the parental attitudes about available reproductive options. One of the most common mitochondrial conditions is Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes (MELAS). For this study, women who have MELAS were interviewed to gain a more in-depth understanding of the psychosocial impact of receiving a diagnosis of a mitochondrial condition and of their experiences with genetic counseling, family planning, and reproductive decision-making. Interviews were conducted with two women who have MELAS, and interview transcripts were analyzed using thematic analysis. This study identified four themes related to the impact of a MELAS diagnosis on women and their families: impact of the range of severity of MELAS, familial implications and concern for family, intellectual curiosity and desire for knowledge, and implications for family planning and reproductive decision making. The experiences and opinions of these women were analyzed with a focus on ways in which genetic counselors and other healthcare providers can provide care and support to families with MELAS. This study has Public Health significance because the results can be used to provide more personalized care to individuals with MELAS and may contribute to the development of updated educational materials or resources that are provided to individuals diagnosed with MELAS.


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Item Type: University of Pittsburgh ETD
Status: Unpublished
CreatorsEmailPitt UsernameORCID
Rhine, Mariamer119@pitt.edumer119
ETD Committee:
TitleMemberEmail AddressPitt UsernameORCID
Committee ChairWalsh Vockley, CatherineVOCKLEYC@pitt.eduvockleyc
Committee MemberGrubs, Robinrgrubs@pitt.edurgrubs
Committee MemberFelter, Elizabethemfelter@pitt.eduemfelter
Date: 12 May 2022
Date Type: Publication
Defense Date: 12 April 2022
Approval Date: 12 May 2022
Submission Date: 27 April 2022
Access Restriction: No restriction; Release the ETD for access worldwide immediately.
Number of Pages: 76
Institution: University of Pittsburgh
Schools and Programs: School of Public Health > Human Genetics
Degree: MS - Master of Science
Thesis Type: Master's Thesis
Refereed: Yes
Uncontrolled Keywords: mitochondria, genetics, genetic counseling, reproductive choices, family planning
Date Deposited: 12 May 2022 14:22
Last Modified: 12 May 2022 14:22


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