Longitudinal Interviews of Couples Diagnosed with Diminished Ovarian Reserve Undergoing Fragile X Premutation Testing

Abstract

About 10% of infertile/subfertile women are diagnosed with diminished ovarian reserve (DOR), of which < 5% will become pregnant spontaneously. Fragile X (FMR1) genetic testing may provide a reason for her early ovarian aging and/or have reproductive implications. Seven women with DOR (genetic study subset) and the male partners of six of these women were separately interviewed about the experience of being asked to undergo this unanticipated genetic test. Three interviews were conducted (before, within 1 week after, and 3 months after learning the test results). None of the participants carried the FMR1 premutation (largest FMR1 allele 27–50 CGG repeats).For women, their pregnancy-seeking journey was long and exhausting. Women understood the reproductive implications of carrying the FMR1 premutation, and hoped for a negative result. Being offered a genetic test caused women to pause and re-think their future reproductive plans. Husbands viewed the infertility journey as filled with unknowns, of which the genetic test results would be one more puzzle piece. The expense of fertility testing/treatment was mentioned by both spouses, though more notably by husbands. The introduction of a possible genetic cause of infertility, with additional potential health consequences for future biological children, caused women to re-think their quest for pregnancy. In contrast, the genetic test was viewed as an additional source of information for their husbands as opposed to raising concern regarding potential reproductive ramifications.

Attitudes Towards Potentially Carrying the FMR1 Premutation: Before vs After Testing of Non‐Carrier Females with Diminished Ovarian Reserve

“…Additionally, a woman may downplay her perception of the seriousness of FXP when she thinks she is still at risk for carrying the FXP. Qualitative interviews reported previously (Pastore et al, 2013) with a subset of this study population, also support a change in attitude over time towards fragile X, in that the relief expressed at not carrying the FXP was much greater than the concern expressed about carrying the FXP before their test results were known.…”

“…Our qualitative research indicated that women view a positive genetic result as a plausible explanation for their fertility challenges (Pastore et al, 2013). The strongest pretest negative emotion was sadness at potentially carrying the FXP.…”

“…A recent qualitative study of seven women with DOR who were undergoing FMR1 testing reported that most women had a sense of hope about not carrying the premutation (Pastore et al, 2013). Prior to learning their test results, many acknowledged that the results would potentially have an impact on their future reproductive decisions.…”

Infertility-Related Risk Factors: A Systematic Review

“…Chlamydia and gonorrhea are most common STI which lead to infertility in men and women. Chlamydia is among the most common STI in England and 196 new cases affected with this infection were identified in 2011; youth (aged [15][16][17][18][19][20][21][22][23][24] were at risk of this disease more than others. This disease has no symptom.…”

“…The role of obesity in pregnancy focuses on the physiology of fat body and metabolic disorders (16). Articles show that nearly 10% of sub-fertile or infertile women have been diagnosed with diminished reduced ovarian (DOR) (23). Polycystic ovary is one of the common reasons of ovulation disorder in women of childbearing age (24).…”