Abstract
A population-based CF carrier screening program was implemented in Victoria, Australia in 2006. This study explored the experiences of couples when both partners were identified as CF carriers. Between January 2006 and December 2010, 10 carrier couples were identified and invited to undertake a semi-structured interview. Nine interviews were conducted, seven couple interviews and two individual interviews. One couple declined to participate due to the recent termination of an affected pregnancy. Interviews were analyzed using inductive content analysis. All couples experienced surprise on learning their carrier couple result. The couples who were pregnant at the time of screening chose to have prenatal diagnosis, with the majority considering it to be the “next step.” The two couples who had an affected pregnancy reported feelings of devastation and grief upon receiving their prenatal diagnosis result and terminated the pregnancy. All carrier couples were offered free genetic counseling, with only one couple declining the offer. Couples were unprepared for a positive carrier couple result. However, all the couples changed their reproductive behavior as a result of their carrier status. The results of this study have been used to inform the program and service offered to CF carrier couples particularly with respect to genetic counseling for reproductive decision making.
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Abbreviations
- CF:
-
Cystic fibrosis
- VCGS:
-
Victorian Clinical Genetics Services
- PND:
-
Prenatal diagnosis
- TOP:
-
Termination of pregnancy
- PGD:
-
Preimplantation genetic diagnosis
References
American College of Obstetricians and Gynaecologists Committee on Genetics. (2011). ACOG Committee Opinion No. 486. Upate on carrier screening for cystic fibrosis. Obstetrics and Gynaecology, 117, 1028–31.
Baillie, C., Smith, J., Hewison, J., & Mason, G. (2000). Ultrasound screening for chromosonal abnormality: Women’s reactions to false positive results. British Journal of Health Psychology, 5, 377–394.
Barlow-Stewart, K., Burnett, L., Proos, A., Howell, V., Huq, F., Lazarus, R., et al. (2003). A genetic screening programme for Tay-Sachs disease and cystic fibrosis for Australian Jewish high school students. Journal of Medical Genetics, 40, e45.
Botkin, J. R., & Alemagno, S. (1992). Carrier screening for cystic fibrosis: a pilot study of the attitudes of pregnant women. American Journal of Public Health, 82, 723–725.
Boue, J., Muller, F., Simon-Bouy, B., Faure, C., & Boue, A. (1991). Consequences of prenatal diagnosis of cystic fibrosis on the reproductive attitudes of parents of affected children. Prenatal Diagnosis, 11, 209–214.
Boulton, M., Cummings, C., & Williamson, R. (1996a). The views of general practitioners on community carrier screening for cystic fibrosis. British Journal of General Practice, 46, 299–301.
Boulton, M., Cummings, C., Mayall, E., Watson, E., & Williamson, R. (1996b). A video to inform and reassure autonomous cystic fibrosis carriers identified by a community screening programme. Health Education Journal, 55, 203–214.
Brock, D. J. (1996). Prenatal screening for cystic fibrosis: 5 years’ experience reviewed. Lancet, 347, 148–50.
Clausen, H., Brandt, N. J., Schwartz, M., & Skovby, F. (1996). Psychological and social impact of carrier screening for cystic fibrosis among pregnant woman–a pilot study. Clinical Genetics, 49, 200–5.
Cobb, E., Holloway, S., Elton, R., & Raeburn, J. A. (1991). What do young people think about screening for cystic fibrosis? Journal of Medical Genetics, 28(5), 322–324.
De Braekeleer, M., Bellis, G., Rault, G., Allard, C., Milot, M., & Simard, F. (2000). Reproductive attitudes of couples having a child with cystic fibrosis in Saguenay-Lac-Saint-Jean (Quebec, Canada). Annales de Génétique, 43, 93–7.
De Braekeleer, M., Rault, G., & Bellis, G. (2004). Reproductive attitudes of couples having a child with cystic fibrosis in Brittany (France). Journal of Human Genetics, 49, 285–9.
Decruyenaere, M., Evers-Kiebooms, G., Denayer, L., & Van den Berghe, H. (1992). Cystic fibrosis: community knowledge and attitudes towards carrier screening and prenatal diagnosis. Clinical Genetics, 41, 189–96.
Delvaux, I., van Tongerloo, A., Messiaen, L., Van Loon, C., De Bie, S., Mortier, G., et al. (2001). Carrier screening for cystic fibrosis in a prenatal setting. Genetic Testing, 5, 117–25.
Dodge, J. A., Lewis, P. A., Stanton, M., & Wilsher, J. (2007). Cystic fibrosis mortality and survival in the UK: 1947–2003. European Respiratory Journal, 29, 522–526.
Dudding, T., Wilcken, B., Burgess, B., Hambly, J., & Turner, G. (2000). Reproductive decisions after neonatal screening identifies cystic fibrosis. Archives of Disease in Childhood Fetal & Neonatal Edition, 82, F124–7.
Durfy, S. J., Page, A., Eng, B., Chang, P. L., & Waye, J. S. (1994). Attitudes of high school students toward carrier screening and prenatal diagnosis of cystic fibrosis. Journal of Genetic Counseling, 3, 141–55.
Elo, S., & Kyngas, H. (2008). The Qualitative content analysis process. Journal of Advanced Nursing, 62(1), 107–115.
Evers-Kiebooms, G., Denayer, L., Cassiman, J. J., & van den Berghe, H. (1988). Family planning decisions after the birth of a cystic fibrosis child. The impact of prenatal diagnosis. Scandinavian Journal of Gastroenterology – Supplement, 143, 38–46.
Frets, P. G., Duivenvoorden, H. J., Verhage, F., Peters-Romeyn, B. M. T., & Niermeijer, M. F. (1991). Analysis of problems in making the reproductive decision after genetic counselling. Journal of Medical Genetics, 28, 194–200.
Green, J. M. (1992). Principles and practicalities of carrier screening: attitudes of recent parents. Journal of Medical Genetics, 29, 313–9.
Grody, W. W., Dunkel-Schetter, C., Tatsugawa, Z. H., Fox, M. A., Fang, C. Y., Cantor, R. M., et al. (1997). PCR-based screening for cystic fibrosis carrier mutations in an ethnically diverse pregnant population. American Journal of Human Genetics, 60, 935–947.
Hall, J., Fiebig, D. G., King, M. T., Hossain, I., & Louviere, J. J. (2006). What influences participation in genetic carrier testing? Results from a discrete choice experiment. Journal of Health Economics, 25, 520–537.
Henneman, L., Bramsen, I., Van Os, T. A., Reuling, I. E., Heyerman, H. G., van der Laag, J., et al. (2001a). Attitudes towards reproductive issues and carrier testing among adult patients and parents of children with cystic fibrosis (CF). Prenatal Diagnosis, 21, 1–9.
Henneman, L., Bramsen, I., van der Ploeg, H. M., Ader, H. J., van der Horst, H. E., Gille, J. J. P., et al. (2001b). Participation in preconceptional carrier couple screening: characteristics, attitudes, and knowledge of both partners. Journal of Medical Genetics, 38, 695–703.
Henneman, L., Kooij, L., Bouman, K., & ten Kate, L. P. (2002). Personal experiences of cystic fibrosis (CF) carrier couples prospectively identified in CF families. American Journal of Medical Genetics, 110, 324–31.
Henneman, L., Bramsen, I., van Kempen, L., van Acker, M. B., Pals, G., van der Horst, H. E., et al. (2003). Offering preconceptional cystic fibrosis carrier couple screening in the absence of established preconceptional care services. Community Genetics, 6, 5–13.
Human Genetics Society of Australasia. (2014) Population Based Carrier Screening for Cystic Fibrosis position statement.
Ioannou, L., Massie, J., Collins, V., McClaren, B., & Delatycki, M. (2010). Population-based genetic screening for cystic fibrosis: attitudes and outcomes. Public Health Genomics, 13, 449–456.
Ioannou, L., Massie, J., Collins, V., McClaren, B., & Delatycki, M. (2013) Attitudes and opinions of pregnant women who are not offered cystic fibrosis carrier screening. European Journal of Human Genetics.
Ioannou, L., Massie, J., Collins, V., McClaren, B., & Delatycki, M. (2014). ‘No Thanks’- Reasons why pregnant women declined an offer of cystic fibrosis carrier screening. Journal of Community Genetics, 5(2), 109–117.
Loader, S., Caldwell, P., Kozyra, A., Levenkron, J. C., Boehm, C. D., Kazazian, H. H., Jr., et al. (1996). Cystic fibrosis carrier population screening in the primary care setting. American Journal of Human Genetics, 59, 234–47.
Magnay, D., Wilson, O., el Hait, S., Balhamar, M., & Burn, J. (1992). Carrier testing for cystic fibrosis: knowledge and attitudes within a local community. Journal of the Royal College of Physicians of London, 26, 69–70.
Massie, J., Castellani, C., & Grody, W. W. (2014). Carrier screening for cystic fibrosis in the new era of medications that restore CFTR function. The Lancet, 383(9920), 923-25.
Massie, J., Petrou, V., Forbes, R., Curnow, L., Ioannou, L., Dusart, D., et al. (2009). Population-based carrier screening for cystic fibrosis in Victoria: the first three years experience. Australian & New Zealand Journal of Obstetrics & Gynaecology, 49, 484–489.
McClaren, B. J., Delatycki, M. B., Collins, V., Metcalfe, S. A., & Aitken, M. (2008). ‘It is not in my world’: an exploration of attitudes and influences associated with cystic fibrosis carrier screening. European Journal of Human Genetics, 16, 435–44.
McClaren, B. J., Metcalfe, S. A., Aitken, M., Massie, J., Ukoumunne, O. C., & Amor, D. J. (2010). Uptake of carrier testing in families after cystic fibrosis diagnosis through newborn screening. European Journal of Human Genetics, 18, 1084–1089.
McClaren, B. J., Metcalfe, S. A., Amor, D. J., Aitken, M., & Massie, J. (2011). A case for cystic fibrosis carrier testing in the general population. Medical Journal of Australia, 194, 208–209.
Mischler, E. H., Wilfond, B. S., Fost, N., Laxova, A., Reiser, C., Sauer, C. M., et al. (1998). Cystic fibrosis newborn screening: impact on reproductive behavior and implications for genetic counseling. Pediatrics, 102, 44–52.
Myring, J., Beckett, W., Jassi, R., Roberts, T., Sayers, R., Scotcher, D., et al. (2011). Shock, adjust, decide: reproductive decision making in cystic fibrosis (CF) carrier couples–a qualitative study. Journal of Genetic Counseling, 20, 404–17.
Poppelaars, F. A. M., Henneman, L., Ader, H. J., Cornel, M. C., Hermens, R., van der Wal, G., et al. (2003). How should preconceptional cystic fibrosis carrier screening be provided? Opinions of potential providers and the target population. Community Genetics, 6, 157–65.
Resta, R., Bowles Biesecker, B., Bennett, R. L., Blum, S., Estabrooks Hahn, S., Strecker, M. N., et al. (2006). A new definition of genetic counseling: National Society of Genetic Counselors’ task force report. Journal of Genetic Counseling, 15(2), 77–83.
Rowe, S. M., Miller, S., & Sorscher, E. J. (2005). Mechanisms of disease: cystic fibrosis. New England Journal of Medicine, 352, 1992.
Sawyer, S. M., Cerritelli, B., Carter, L. S., Cooke, M., Glazner, J. A., & Massie, J. (2006). Changing their minds with time: a comparison of hypothetical and actual reproductive behaviors in parents of children with cystic fibrosis. Pediatrics, 118, e649–56.
Schwartz, M., Brandt, N. J., & Skovby, F. (1993). Screening for carriers of cystic fibrosis among pregnant women: a pilot study. European Journal of Human Genetics, 1, 239–44.
Southern, K. W., Munck, A., Pollitt, R., Travert, G., Zanolla, L., Dankert-Roelse, J., & Castellani, C. (2007). A survey of newborn screening for cystic fibrosis in Europe. Journal of Cystic Fibrosis, 6, 57–65.
Watson, E. K., Williamson, R., & Chapple, J. (1991). Attitudes to carrier screening for cystic fibrosis: a survey of health care professionals, relatives of sufferers and other members of the public. British Journal of General Practice, 41, 237–40.
Watson, E. K., Mayall, E. S., Lamb, J., Chapple, J., & Williamson, R. (1992). Psychological and social consequences of community carrier screening programme for cystic fibrosis. Lancet, 340, 217–20.
Watson, M. S., Cutting, G. R., Desnick, R. J., Driscoll, D. A., Klinger, K., Mennuti, M., et al. (2004). Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel. Policy Statement, 6, 387–392.
Wertz, D. C., Rosenfield, J. M., Janes, S. R., & Erbe, R. W. (1991). Attitudes toward abortion among parents of children with cystic fibrosis. American Journal of Public Health, 81, 992–6.
Wilson, J. M., & Jungner, G. (1968). Principals and practice of screening for disease. In Public Health Paper, Number 34. Geneva: World Health Organization.
Acknowledgments
We thank all the participants in this study for their generosity of time and willingness to share their experiences. In addition, we thank the individuals associated with the VCGS CF carrier screening program that assisted with recruitment, in particular Ms Vicki Petrou and Ms Robin Forbes.
Conflict of interest
Author LI, Author JM and Author JH declare that they have no conflict of interest.
Author MBD is a consultant to Healthscope Pathology.
Author SL was funded by a National Health and Medical Research Council Capacity Building Grant in Population Health.
This study was supported by the Victorian Government’s Operational Infrastructure Support Program.
Human Studies and Informed Consent
“All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000. Informed consent was obtained from all patients for being included in the study.”
Animal Studies
No animal studies were carried out by the authors for this article
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Ioannou, L., Delatycki, M.B., Massie, J. et al. “Suddenly Having two Positive People who are Carriers is a Whole New Thing”- Experiences of Couples Both Identified as Carriers of Cystic Fibrosis Through a Population-Based Carrier Screening Program in Australia. J Genet Counsel 24, 987–1000 (2015). https://doi.org/10.1007/s10897-015-9833-9
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DOI: https://doi.org/10.1007/s10897-015-9833-9