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

Journal of Genetic Counseling

Volumn 23, Issue 6, 2014, Pages 968-975

  Pastore, Lisa M ^a   Antero, Maria ^a   Ventura, Karen ^a   Penberthy, J Kim ^a   Thomas, Semara A ^a   Karns, Logan B ^a  

^a UNIVERSITY OF VIRGINIA   (United States)

Author keywords

Attitudes; Diminished ovarian reserve; Female infertility; FMR1; Fragile X; Genetic carrier; Genetic counseling; Genetic screening

Indexed keywords

FMR1 PROTEIN, HUMAN; FRAGILE X MENTAL RETARDATION PROTEIN;

ADULT; ALLELE; ATTITUDE TO HEALTH; FEMALE; FRAGILE X SYNDROME; GENETICS; HUMAN; OVARIAN RESERVE; PREMATURE OVARIAN FAILURE; PSYCHOLOGY; QUESTIONNAIRE; YOUNG ADULT;

ADULT; ALLELES; ATTITUDE TO HEALTH; FEMALE; FRAGILE X MENTAL RETARDATION PROTEIN; FRAGILE X SYNDROME; HUMANS; OVARIAN RESERVE; PRIMARY OVARIAN INSUFFICIENCY; SURVEYS AND QUESTIONNAIRES; YOUNG ADULT;

EID: 84911985080     PISSN: 10597700     EISSN: 15733599     Source Type: Journal    
DOI: 10.1007/s10897-014-9717-4     Document Type: Article

References (42)

1. ACOG Committee of Genetics. (2010). Carrier screening for fragile X syndrome. Obstetrics & Gynecology, 116(4), 1008–1010.
2. Anido, A., Carlson, L. M., & Sherman, S. L. (2007). Attitudes toward fragile X mutation carrier testing from women identified in a general population survey. Journal of Genetic Counseling, 16(1), 97–104.
3. Anido, A., Carlson, L. M., Taft, L., & Sherman, S. (2005). Women’s attitudes toward testing for fragile X carrier status: a qualitative analysis. Journal of Genetic Counseling, 14(4), 295–306.
4. Boivin, J., Bunting, L., Collins, J. A., & Nygren, K. G. (2007). International estimates of infertility prevalence and treatment-seeking: potential need and demand for infertility medical care. Human Reproduction, 22(6), 1506–1512. doi:10.1093/humrep/dem046.
5. Champion, V. (1999). Revised susceptibility, benefits, and barriers scale for mammography screening. Research in Nursing & Health, 22, 341–348.
6. Cizmeli, C., Lobel, M., Franasiak, J., & Pastore, L. M. (2013). Levels and associations among self-esteem, fertility distress, coping, and reaction to potentially being a genetic carrier in women with diminished ovarian reserve. Fertility and Sterility, 99(7), 2037–44. doi:10.1016/j.fertnstert.2013.02.033.
7. Fanos, J. H., & Johnson, J. (1993). Barriers to carrier testing for CF siblings. American Journal of Human Genetics, 53(3 Suppl), 51.
8. Finucane, B., Abrams, L., Cronister, A., Archibald, A., Bennett, R., & McConkie-Rosell, A. (2012). Genetic counseling and testing for FMR1 gene mutations: practice guidelines of the National Society of Genetic Counselors. Journal of Genetic Counseling, 21(6), 752–760. doi:10.1007/s10897-012-9524-8.
9. Friese, C., Becker, G., & Nachtigall, R. D. (2006). Rethinking the biological clock: eleventh-hour moms, miracle moms and meanings of age-related infertility. Social Science & Medicine, 63(6), 1550–1560.
10. Gersak, K., Meden-Vrtovec, H., & Peterlin, B. (2003). Fragile X premutation in women with sporadic premature ovarian failure in Slovenia. Human Reproduction, 18(8), 1637–1640.
11. Gleicher, N., Weghofer, A., & Barad, D. H. (2009). A pilot study of premature ovarian senescence: I. Correlation of triple CGG repeats on the FMR1 gene to ovarian reserve parameters FSH and anti-Müllerian hormone. Fertility and Sterility, 91(5), 1700–1706. doi:10.1016/j.fertnstert.2008.01.098.
12. Harper, J. C., Geraedts, J., Borry, P., Cornel, M. C., Dondorp, W., Gianaroli, L., et al. (2013). Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policy. European Society of Human Genetics and European Society of Human Reproduction and Embryology. European Journal of Human Genetics, 21(Suppl 2), S1–S21. doi:10.1038/ejhg.2013.219.
13. Jain, T. (2006). Socioeconomic and racial disparities among infertility patients seeking care. Fertility and Sterility, 85(4), 876–881. doi:10.1016/j.fertnstert.2005.07.1338.
14. Karimov, C. B., Moragianni, V. A., Cronister, A., Srouji, S., Petrozza, J., Racowsky, C., et al. (2011). Increased frequency of occult fragile X-associated primary ovarian insufficiency in infertile women with evidence of impaired ovarian function. Human Reproduction, 26(8), 2077–2083.
15. Kronquist, K. E., Sherman, S. L., & Spector, E. B. (2008). Clinical significance of tri-nucleotide repeats in Fragile X testing: a clarification of American College of Medical Genetics guidelines. Genetics in Medicine, 10(11), 845–847.
16. Levi, A. J., Raynault, M. F., Bergh, P. A., Drews, M. R., Miller, B. T., & Scott, R. T., Jr. (2001). Reproductive outcome in patients with diminished ovarian reserve. Fertility & Sterility., 76(4), 666–669.
17. Maddalena, A., Richards, C. S., McGinniss, M. J., Brothman, A., Desnick, R. J., Grier, R. E., et al. (2001). Technical standards and guidelines for fragile X: the first of a series of disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics. Quality Assurance Subcommittee of the Laboratory Practice Committee. Genetics in Medicine, 3(3), 200–205.
18. McConkie-Rosell, A., Abrams, L., Finucane, B., Cronister, A., Gane, L. W., Coffey, S. M., et al. (2007). Recommendations from multi-disciplinary focus groups on cascade testing and genetic counseling for fragile X-associated disorders. Journal of Genetic Counseling, 16(5), 593–606.
19. McConkie-Rosell, A., Spiridigliozzi, G. A., Iafolla, T., Tarleton, J., & Lachiewicz, A. M. (1997). Carrier testing in the fragile X syndrome: attitudes and opinions of obligate carriers. American Journal of Medical Genetics, 68(1), 62–69.
20. McConkie-Rosell, A., Spiridigliozzi, G. A., Sullivan, J. A., Dawson, D. V., & Lachiewicz, A. M. (2000). Carrier testing in fragile X syndrome: effect on self-concept. American Journal of Medical Genetics, 92(5), 336–342.
21. McConkie-Rosell, A., Spiridigliozzi, G. A., Sullivan, J. A., Dawson, D. V., & Lachiewicz, A. M. (2001). Longitudinal study of the carrier testing process for fragile X syndrome: perceptions and coping. American Journal of Medical Genetics, 98, 37–45.
22. McConkie-Rosell, A., Spiridigliozzi, G. A., Sullivan, J. A., Dawson, D. V., & Lachiewicz, A. M. (2002). Carrier testing in fragile X syndrome: when to tell and test. American Journal of Medical Genetics, 110(1), 36–44.
23. Nelson, S. M., Messow, M. C., Wallace, A. M., Fleming, R., & McConnachie, A. (2011). Nomogram for the decline in serum antimüllerian hormone: a population study of 9,601 infertility patients. Fertility and Sterility, 95(2), 736–741.e733. doi:10.1016/j.fertnstert.2010.08.022.
24. Nolin, S. L., Brown, W. T., Glicksman, A., Houck, G. E., Jr., Gargano, A. D., Sullivan, A., et al. (2003). Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles. American Journal of Human Genetics, 72(2), 454–464.
25. Nolin, S. L., Glicksman, A., Ding, X., Ersalesi, N., Brown, W. T., Sherman, S. L., et al. (2011). Fragile X analysis of 1112 prenatal samples from 1991 to 2010. Prenatal Diagnosis, 31(10), 925–931.
26. Nolin, S. L., Sah, S., Glicksman, A., Sherman, S. L., Allen, E., Berry-Kravis, E., et al. (2013). Fragile X AGG analysis provides new risk predictions for 45–69 repeat alleles. American Journal of Medical Genetics. Part A, 161(4), 771–778.
27. Pastore, L. M., Karns, L. B., Ventura, K., Clark, M. L., Steeves, R. H., & Callanan, N. P. (2014). Longitudinal interviews of couples diagnosed with diminished ovarian reserve undergoing fragile X premutation testing. Journal of Genetic Counseling, 23(1), 97–107. doi:10.1007/s10897-013-9616-0.
28. Pastore, L. M., Morris, W. L., Karns, L. B., Pastore, L. M., Morris, W. L., & Karns, L. B. (2008). Emotional reaction to fragile X premutation carrier tests among infertile women. Journal of Genetic Counseling, 17(1), 84–91.
29. Pastore, L. M., Young, S. L., Baker, V. M., Karns, L. B., Williams, C. D., & Silverman, L. M. (2012). Elevated prevalence of 35–44 FMR1 trinucleotide repeats in women with diminished ovarian reserve. Reproductive Sciences, 19(11), 1226–1231.
30. Raspberry, K., & Skinner, D. (2011a). Enacting genetic responsibility: experiences of mothers who carry the fragile X gene. Sociology of Health & Illness, 33(3), 420–433.
31. Raspberry, K. A., & Skinner, D. (2011b). Negotiating desires and options: how mothers who carry the fragile X gene experience reproductive decisions. Social Science & Medicine, 72(6), 992–998.
32. Scott, R. T., Jr., & Hofmann, G. E. (1995). Prognostic assessment of ovarian reserve. Fertility & Sterility, 63(1), 1–11.
33. Scriver, J., Baker, V., Young, S., Behr, B., & Pastore, L. (2010). Inter-laboratory validation of the measurement of follicle stimulating hormone (FSH) after various lengths of frozen storage. Reproductive Biology and Endocrinology, 8(1), 145.
34. Sharara, F. I., Scott, J. R. T., & Seifer, D. B. (1998). The detection of diminished ovarian reserve in infertile women. American Journal of Obstetrics and Gynecology, 179(3), 804–812.
35. Sherman, S. L. (2000). Premature ovarian failure in the fragile X syndrome. American Journal of Medical Genetics, 97, 189–194.
36. Sherman, S., Pletcher, B. A., & Driscoll, D. A. (2005). Fragile X syndrome: diagnostic and carrier testing. Genetics in Medicine, 7(8), 584–587.
37. Streuli, I., Fraisse, T., Ibecheole, V., Moix, I., Morris, M. A., & de Ziegler, D. (2009). Intermediate and premutation FMR1 alleles in women with occult primary ovarian insufficiency. Fertility and Sterility, 92(2), 464–470.
38. Taieb, J., Olivennes, F., Birr, A. S., Benattar, C., Righini, C., Frydman, R., et al. (2002). Comparison of day 3 FSH serum values as determined by six different immunoassays. Human Reproduction, 17(4), 926–928.
39. Uzielli, M. L., Guarducci, S., Lapi, E., Cecconi, A., Ricci, U., Ricotti, G., et al. (1999). Premature ovarian failure (POF) and fragile X premutation females: from POF to fragile X carrier identification, from fragile X carrier diagnosis to POF association data. American Journal of Medical Genetics, 84(3), 300–303.
40. Williams, J. K., & Schutte, D. L. (1997). Benefits and burdens of genetic carrier identification. Western Journal of Nursing Research, 19(1), 71–82.
41. Wooldridge, E. Q., & Murray, R. F. J. (1988). The Health Orientation Scale: a measure of feelings about sickle cell trait. Social Biology, 35(1–2), 126–136.
42. Wuensch, K. L. (2004). Nonparametric statistics. Retrieved 01-12-2005, from http://core.ecu.edu/psyc/wuenschk/StatsLessons.htm