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01-02-2014 | Original Research

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

Authors: Lisa M. Pastore, Logan B. Karns, Karen Ventura, Myra L. Clark, Richard H. Steeves, Nancy Callanan

Published in: Journal of Genetic Counseling | Issue 1/2014

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.

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

Agar, M. H. (1986). Speaking of ethnography. Beverly Hills: Sage.

Akande, V. A., Fleming, C. F., Hunt, L. P., Keay, S. D., & Jenkins, J. M. (2002). Biological versus chronological ageing of oocytes, distinguishable by raised FSH levels in relation to the success of IVF treatment. Human Reproduction, 17(8), 2003–2008.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

Archibald, A. D., & McClaren, B. J. (2012). Perceived relevance of genetic carrier screening: observations of the role of health-related life experiences and stage of life in decision making. Journal of Community Genetics, 3(1), 47–54.PubMedCentralPubMedCrossRef

Ashley-Koch, A. E., Robinson, H., Glicksman, A. E., Nolin, S. L., Schwartz, C. E., Brown, W. T., et al. (1998). Examination of factors associated with instability of the FMR1 CGG repeat. American Journal of Human Genetics, 63(3), 776–785.PubMedCentralPubMedCrossRef

Bitler, M., & Schmidt, L. (2006). Health disparities and infertility: impacts of state-level insurance mandates. Fertility and Sterility, 85(4), 858–865.PubMedCrossRef

Brown, W. T., Houck, G. E., Jr., Ding, X., Zhong, N., Nolin, S., Glicksman, A., et al. (1996). Reverse mutations in the fragile X syndrome. American Journal of Medical Genetics, 64(2), 287–292.PubMedCrossRef

Cohen, M. Z., Kahn, D. L., & Steeves, R. H. (2000). Hermeneutic phenomenology: a practical guide for nurse researchers. Thousand Oaks: Sage.

Decruyenaere, M., Evers-Kiebooms, G., Boogaerts, A., Cassiman, J. J., Cloostermans, T., Demyttenaere, K., et al. (1996). Prediction of psychological functioning 1 year after the predictive test for Huntington’s disease and impact of the test result on reproductive decision making. Journal of Medical Genetics, 33(9), 737–743.PubMedCrossRef

Decruyenaere, M., Evers-Kiebooms, G., Boogaerts, A., Demyttenaere, K., Dom, R., & Fryns, J. (2005). Partners of mutation-carriers for Huntington’s disease: forgotten persons? European Journal of Human Genetics, 13(9), 1077–1085.PubMedCrossRef

Decruyenaere, M., Evers-Kiebooms, G., Boogaerts, A., Philippe, K., Demyttenaere, K., Dom, R., et al. (2007). The complexity of reproductive decision-making in asymptomatic carriers of the Huntington mutation. European Journal of Human Genetics, 15(4), 453–462.PubMedCrossRef

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. doi:10.1007/s10897-012-9524-8.

Fisch, G. S., Snow, K., Thibodeau, S. N., Chalifaux, M., Holden, J. J., Nelson, D. L., et al. (1995). The fragile X premutation in carriers and its effect on mutation size in offspring. American Journal of Human Genetics, 56(5), 1147–1155.PubMedCentralPubMed

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

Gadamer, H.-G. (1989). Truth and method (J. W. D. G. Marshall, Trans. 2nd ed.). NY: Crossroads.

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.PubMedCrossRef

Glover, L., McLellan, A., & Weaver, S. M. (2009). What does having a fertility problem mean to couples? Journal of Reproductive & Infant Psychology, 27(4), 401–418.CrossRef

Greil, A. L., Slauson-Blevins, K., & McQuillan, J. (2010). The experience of infertility: a review of recent literature. Sociology of Health & Illness, 32(1), 140–162.CrossRef

Heidegger, M. (1962). Being and time (J. M. E. Robinson, Trans.). NY: Harper and Row.

Imeson, M., & McMurray, A. (1996). Couples’ experiences of infertility: a phenomenological study. Journal of Advanced Nursing, 24(5), 1014–1022.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

Kenen, R., Smith, A. C. M., Watkins, C., & Zuber-Pittore, C. (2000). To use or not to use: male partners’ perspectives on decision making about prenatal diagnosis. Journal of Genetic Counseling, 9(1), 33–45.CrossRef

Kockelmanns, J. J. (1975). Towards an interpretive or hermeneutic social science. Graduate Faculty Philosophy Journal: New School of Social Research, 5(1), 73–96.CrossRef

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 and Sterility, 76(4), 666–669.PubMedCrossRef

Lincoln, Y. S., & Guba, E. G. (1985). Naturalistic inquiry. Beverly Hills: Sage.

McCarthy, M. P. (2008). Women’s lived experience of infertility after unsuccessful medical intervention. Journal of Midwifery & Women’s Health, 53(4), 319–324.CrossRef

McConkie-Rosell, A., Finucane, B., Cronister, A., Abrams, L., Bennett, R. L., & Pettersen, B. J. (2005). Genetic counseling for fragile x syndrome: updated recommendations of the national society of genetic counselors. Journal of Genetic Counseling, 14(4), 249–270.PubMedCrossRef

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

Nachtigall, R. D., MacDougall, K., Davis, A. C., & Beyene, Y. (2012). Expensive but worth it: older parents’ attitudes and opinions about the costs and insurance coverage for in vitro fertilization. Fertility and Sterility, 97(1), 82–87.PubMedCentralPubMedCrossRef

Nelson, L. M., & Bakalov, V. K. (2003). Mechanisms of follicular dysfunction in 46, XX spontaneous premature ovarian failure. Endocrinology and Metabolism Clinics of North America, 32, 613–637.PubMedCrossRef

Nolin, S. L., Lewis, F. A., 3rd, Ye, L. L., Houck, G. E., Jr., Glicksman, A. E., Limprasert, P., et al. (1996). Familial transmission of the FMR1 CGG repeat. American Journal of Human Genetics, 59(6), 1252–1261.PubMedCentralPubMed

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 1991–2010. 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., Pinkerton, J. V., Silverman, L. M., Williams, C. D., & Camp, T. R. (2006). Acceptance of fragile X premutation genetic screening in women with ovarian dysfunction. American Journal of Obstetrics and Gynecology, 194(3), 738–743.PubMedCrossRef

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.PubMedCrossRef

Reyniers, E., Vits, L., De Boulle, K., Van Roy, B., Van Velzen, D., de Graaff, E., et al. (1993). The full mutation in the FMR-1 gene of male fragile X patients is absent in their sperm. Nature Genetics, 4(2), 143–146.PubMedCrossRef

Sandelowski, M. (1995). Sample size in qualitative methods. Research in Nursing & Health, 18(2), 179–183.CrossRef

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

Sherrod, R. A. (2006). Male infertility: the element of disguise. Journal of Psychosocial Nursing and Mental Health Services, 44(10), 30–37.PubMed

Skinner, D., Choudhury, S., Sideris, J., Guarda, S., Buansi, A., Roche, M., et al. (2011). Parents’ decisions to screen newborns for FMR1 gene expansions in a pilot research project. Pediatrics, 127(6), e1455–e1463.PubMedCrossRef

Speroff, L., & Fritz, M. A. (2005). Clinical gynecologic endocrinology and infertility (7th ed.). Philadelphia: Lippincott Williams & Wilkins.

Steeves, R. H., & Kahn, D. L. (1995). A hermeneutical human science for nursing. In A. Omery, C. Kasper, & G. G. Page (Eds.), In search of nursing science. Beverly Hills: Sage.

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

Vits, L., De Boulle, K., Reyniers, E., Handig, I., Darby, J. K., Oostra, B., et al. (1994). Apparent regression of the CGG repeat in FMR1 to an allele of normal size. Human Genetics, 94(5), 523–526.PubMedCrossRef

Whiteford, L. M., & Gonzalez, L. (1995). Stigma: the hidden burden of infertility. Social Science & Medicine, 40(1), 27–36.CrossRef

Wilkes, S., Hall, N., Crosland, A., Murdoch, A., & Rubin, G. (2009). Patient experience of infertility management in primary care: an in-depth interview study. Family Practice, 26(4), 309–316.PubMedCrossRef

Wittenberger, M. D., Hagerman, R. J., Sherman, S. L., McConkie-Rosell, A., Welt, C. K., Rebar, R. W., et al. (2007). The FMR1 premutation and reproduction. Fertility and Sterility, 87(3), 456–465.PubMedCrossRef

Yanushpolsky, E. H., Hurwitz, S., Tikh, E., & Racowsky, C. (2003). Predictive usefulness of cycle day 10 follicle-stimulating hormone level in a clomiphene citrate challenge test for in vitro fertilization outcome in women younger than 40 years of age. Fertility & Sterility, 80(1), 111–115.CrossRef

Zeesman, S., Zwaigenbaum, L., Whelan, D. T., Hagerman, R. J., Tassone, F., & Taylor, S. A. M. (2004). Paternal transmission of fragile X syndrome. American Journal of Medical Genetics. Part A, 129A(2), 184–189.PubMed

Title: Longitudinal Interviews of Couples Diagnosed with Diminished Ovarian Reserve Undergoing Fragile X Premutation Testing
Authors: Lisa M. Pastore
Logan B. Karns
Karen Ventura
Myra L. Clark
Richard H. Steeves
Nancy Callanan
Publication date: 01-02-2014
Publisher: Springer US
Published in: Journal of Genetic Counseling / Issue 1/2014
Print ISSN: 1059-7700
Electronic ISSN: 1573-3599
DOI: https://doi.org/10.1007/s10897-013-9616-0

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

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