Original Research

Journal of Genetic Counseling

, Volume 17, Issue 1, pp 84-91

First online:

Emotional Reaction to Fragile X Premutation Carrier Tests Among Infertile Women

  • Lisa M. PastoreAffiliated withDepartment of Obstetrics and Gynecology, School of Medicine, University of VirginiaOB/GYN Department, University of Virginia Email author 
  • , Wendy L. MorrisAffiliated withDepartment of Psychology, McDaniel College
  • , Logan B. KarnsAffiliated withDepartment of Obstetrics and Gynecology, School of Medicine, University of Virginia

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Female fragile X premutation carriers are at ∼10-fold increased risk of premature ovarian failure (follicle stimulating hormone >40 mIU/mL, amenorrhea, age <40). A milder degree of premature ovarian aging (diminished ovarian reserve, where follicle stimulating hormone levels are typically 10–20 mIU/mL) results in infertility. Approximately 10% of fertility clinic patients have this diagnosis. A cohort of 20 women diagnosed with diminished ovarian reserve provided a blood specimen (confidential results), and completed structured questionnaires that assessed emotional reactions to potentially being a premutation carrier (pretest questionnaire, n = 20) and the posttest known carrier status (3 month follow-up questionnaire, n = 18 non-carriers). Responses were measured using 9-point scales, and analyzed with Fisher exact and Wilcoxon exact tests. While most participants did not view fragile X premutations as a serious medical condition, perceptions of seriousness were positively correlated with anger and regret about not knowing sooner of the potential association of these premutations with infertility. Overall, when women (pretest) imagined themselves as carriers, their self-esteem and Health Orientation Scale responses were unchanged with the exception of feeling more afraid (p = 0.004). Despite strongly wishing for negative test results, they were glad to know there might be a medical explanation for their infertility.


Diminished ovarian reserve Fragile X Genetic counseling Genetic screening FMR1 gene Emotions Infertility Female