"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 Couns. 2015 Dec;24(6):987-1000. doi: 10.1007/s10897-015-9833-9. Epub 2015 May 1.

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.

Keywords: Attitudes; Cystic fibrosis; Cystic fibrosis carrier screening; Genetic counseling; Genetic screening.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Cystic Fibrosis / genetics
  • Cystic Fibrosis / prevention & control
  • Cystic Fibrosis / psychology*
  • Decision Making
  • Female
  • Genetic Carrier Screening
  • Genetic Counseling / psychology*
  • Health Knowledge, Attitudes, Practice
  • Humans
  • Mass Screening / methods*
  • Patient Acceptance of Health Care / psychology*
  • Preconception Care / methods*
  • Pregnancy
  • Spouses / psychology*
  • Spouses / statistics & numerical data
  • Victoria / epidemiology