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• W2810164060 abstract "Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive degenerative muscular conditions. Carrier testing is available to at-risk females. Though carrier testing is often offered to adolescent females, it raises ethical issues related to autonomy. This study aimed to address the impact of DMD/BMD carrier testing during adolescence, to elucidate what motivates adolescents to seek testing, and to assess the carrier testing experience. Retrospective semi-structured telephone interviews were conducted with 12 women out of 28 initially contacted. Data were coded using thematic analysis. For most (8/12) participants, discovering their carrier status during adolescence appeared to have helped alleviate uncertainty. The majority (9/12) of participants felt that they had made an autonomous decision and most (10/12) seemed to have adjusted well to their test result. Reproductive factors were framed as having been a key motivator prior to testing. However, following testing, participants' views on prenatal diagnosis seemed more closely linked to their lived experience than to their test result. Just over half (7/12) the participants reported having not had the opportunity for genetic counseling prior to testing and after receiving their result, an issue that warrants further consideration." @default.
• W2810164060 created "2018-07-10" @default.
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• W2810164060 date "2018-07-04" @default.
• W2810164060 modified "2023-10-14" @default.
• W2810164060 title "Experiences of Women Who Have Had Carrier Testing for Duchenne Muscular Dystrophy and Becker Muscular Dystrophy During Adolescence" @default.
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• W2810164060 doi "https://doi.org/10.1007/s10897-018-0266-0" @default.
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