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“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

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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Fig. 1

Abbreviations

CF:

Cystic fibrosis

VCGS:

Victorian Clinical Genetics Services

PND:

Prenatal diagnosis

TOP:

Termination of pregnancy

PGD:

Preimplantation genetic diagnosis

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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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Correspondence to Sharon Lewis.

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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

Keywords

  • Genetic screening
  • Cystic fibrosis
  • Cystic fibrosis carrier screening
  • Attitudes
  • Genetic counseling