Top

Published in:

01-12-2014 | Original Research

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

Authors: Lisa M. Pastore, Maria Antero, Karen Ventura, J. Kim Penberthy, Semara A. Thomas, Logan B. Karns

Published in: Journal of Genetic Counseling | Issue 6/2014

Abstract

Diminished ovarian reserve (DOR) and premature ovarian failure are associated with elevated FMR1 CGG repeat alleles. We assessed pretest attitudes about potentially carrying the FMR1 premutation (FXP) (>55 CGG repeats) among reproductive age women compared with attitudes after learning their non-carrier status. Ninety-two women with DOR, regular menses and no family history of Fragile X Syndrome underwent FMR1 testing and completed attitudinal questionnaires before (T1) and 3 months after learning the test results (T2). The analysis utilized signed rank tests and α = 0.05. Very few women thought they were likely to have a FXP (6.6 %). More participants thought FMR1 premutations were “serious” at T2 (62.9 %) than at T1 (46.1 %, p < 0.0003). When asked at T1 to “describe your feelings when you consider that you are potentially a carrier” of a FXP, 10 % had negative feelings, 50 % felt ambivalent, and 40 % had positive feelings. At T2, feelings about not being a carrier were significantly more favorable (p < 0.0001): negative (0 %), ambivalent (6.5 %), positive (93 %). Corroborating prior reports, few women had a negative view of FXP, perhaps anticipating that carrying the FXP explains their infertility. Perception of the seriousness of FXP increased after learning they did not carry the FXP, which would be predicted by health belief models.

ACOG Committee of Genetics. (2010). Carrier screening for fragile X syndrome. Obstetrics & Gynecology, 116(4), 1008–1010.

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.PubMedCrossRef

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.PubMedCrossRef

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.PubMedCrossRef

Champion, V. (1999). Revised susceptibility, benefits, and barriers scale for mammography screening. Research in Nursing & Health, 22, 341–348.CrossRef

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.

Fanos, J. H., & Johnson, J. (1993). Barriers to carrier testing for CF siblings. American Journal of Human Genetics, 53(3 Suppl), 51.

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.

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.CrossRef

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.PubMedCrossRef

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.PubMedCrossRef

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.

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.PubMedCrossRef

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.PubMedCrossRef

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.PubMedCentralPubMedCrossRef

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.CrossRef

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.

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.PubMedCrossRef

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.PubMedCrossRef

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.PubMedCrossRef

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.PubMedCrossRef

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.PubMedCrossRef

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.PubMedCrossRef

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.PubMedCentralPubMedCrossRef

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.PubMedCrossRef

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.CrossRef

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.

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.PubMedCrossRef

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.PubMedCentralPubMedCrossRef

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.CrossRef

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.CrossRef

Scott, R. T., Jr., & Hofmann, G. E. (1995). Prognostic assessment of ovarian reserve. Fertility & Sterility, 63(1), 1–11.

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.PubMedCentralPubMedCrossRef

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.PubMedCrossRef

Sherman, S. L. (2000). Premature ovarian failure in the fragile X syndrome. American Journal of Medical Genetics, 97, 189–194.PubMedCrossRef

Sherman, S., Pletcher, B. A., & Driscoll, D. A. (2005). Fragile X syndrome: diagnostic and carrier testing. Genetics in Medicine, 7(8), 584–587.PubMedCentralPubMedCrossRef

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.PubMedCrossRef

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.PubMedCrossRef

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.PubMedCrossRef

Williams, J. K., & Schutte, D. L. (1997). Benefits and burdens of genetic carrier identification. Western Journal of Nursing Research, 19(1), 71–82.PubMedCrossRef

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.

Wuensch, K. L. (2004). Nonparametric statistics. Retrieved 01-12-2005, from http://core.ecu.edu/psyc/wuenschk/StatsLessons.htm

Title: Attitudes Towards Potentially Carrying the FMR1 Premutation: Before vs After Testing of Non-Carrier Females with Diminished Ovarian Reserve
Authors: Lisa M. Pastore
Maria Antero
Karen Ventura
J. Kim Penberthy
Semara A. Thomas
Logan B. Karns
Publication date: 01-12-2014
Publisher: Springer US
Published in: Journal of Genetic Counseling / Issue 6/2014
Print ISSN: 1059-7700
Electronic ISSN: 1573-3599
DOI: https://doi.org/10.1007/s10897-014-9717-4

At a glance: The STEP trials

Springer Medicine

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

Abstract

At a glance: The STEP trials

Springer Medicine

Abstract

Please log in to get access to this content

Other articles of this Issue 6/2014

An Exploration of Genetic Counselors’ Needs and Experiences with Prenatal Chromosomal Microarray Testing

Client Views and Attitudes to Non-Invasive Prenatal Diagnosis for Sickle Cell Disease, Thalassaemia and Cystic Fibrosis

Demographic and Experiential Correlates of Public Attitudes Towards Cell-Free Fetal DNA Screening

Existing Challenges Associated with Offering Prenatal Genetic Diagnosis in an Arab Society in the Sultanate of Oman

Conceptualizing Genetic Counseling as Psychotherapy in the Era of Genomic Medicine

Disclosure of Genetic Research Results to Members of a Founder Population