Reproductive decision-making for Barth syndrome carriers: Unexplored complexities.

Area of Science:

• Genetics
• Reproductive Health
• Psychology

Background:

• Reproductive decision-making is complex for carriers of pathogenic X-linked genetic variants.
• Previous studies offer limited insight into decisional conflict experienced by these carriers.

Purpose of the Study:

• To explore how Barth syndrome carriers experience decisional conflict during reproductive decision-making.
• To identify factors contributing to decisional conflict and strategies used to manage it.

Main Methods:

• Semi-structured interviews were conducted with 27 Barth syndrome carriers.
• Data analysis utilized reflexive thematic analysis, focusing on narratives of high and low decisional conflict.

Main Results:

• Decisional conflict arises from internal conflicts between competing value systems.
• Carriers manage conflict by re-prioritizing, reconsidering, and altering their values.
• Personal experiences can reshape value systems and modify decisional conflict over time.

Conclusions:

• Decisional conflict can cause stress and guilt, exacerbated by external opinions.
• Genetic counselors can provide crucial support to reduce decisional conflict and negative emotions.
• Long-term genetic counseling and collaborative support structures are recommended for carriers.