How Does Genetic Counselling Aid Couples in Comprehending Fragile X Syndrome Diagnosis and Impact Their Reproductive Choices?

Abstract

Fragile X syndrome is the most common inherited cause of intellectual disability and autism spectrum disorders, impacting both males and females globally. This dissertation explores the role of genetic counselling in aiding couples to comprehend the diagnosis of FXS and its influence on their reproductive decisions. Through a systematic literature review, the study assesses the effectiveness of genetic counselling in conveying complex genetic information, supporting emotional and psychological needs, and guiding family planning. Key findings suggest that while genetic counselling improves knowledge, it often presents emotional and ethical challenges, particularly in decisions related to prenatal diagnosis, preimplantation genetic diagnosis, and other reproductive options. The study highlights the need for accessible and culturally sensitive genetic counselling services to support families in making informed reproductive choices. Additionally, it underscores the importance of continuous education and support for individuals with FXS and their families to navigate the long-term psychological and emotional impacts of the diagnosis. Recommendations for future research focus on improving genetic counselling practices to address these complex issues better.