The Impact of Genetic Carrier Testing in Reproductive Decision-Making: FMR1 Testing in Women With Diminished Ovarian Reserve

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Background: This study examined how FMR1 genetic testing impacts the reproductive decision-making of women with diminished ovarian reserve (DOR).

Methods: 120 women clinically diagnosed with DOR (elevated FSH and/or low AMH and/or low at trial follicle count, with regular menses), and without a family history of fragile X syndrome, received fragile X genetic testing (FMR1) and completed pretest questionnaires. A subset (n=7) were interviewed pretest. Surveys and interviews were analyzed separately and then integrated using sequential explanatory mixed methods.

Results: Approximately50% regarded carrying the FMR1 pre mutation as a serious condition, while 37.5% had a neutral position. Women were significantly more likely to be upset about being a carrier if they perceived the FMR1 pre mutation to be a serious condition (p< 0.01).Interviews reflect several inheritance concerns (immediate next generation, future generations, and extended family members) and the impact the test results might have on their future reproductive decisions.

Discussion: These qualitative/quantitative responses indicated that FMR1 screening (1) informed DOR patients’ view of an infertility diagnosis (2) prepared them for potential health consequences in future offspring and (3) impacted their future reproductive decisions.

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© 2017 Pastore et al.

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Creative Commons Attribution 4.0 International License
This work is licensed under a Creative Commons Attribution 4.0 International License.