Perception and Attitude towards Fertility and Fertility Preservation Options in Parents of Children with Turner Syndrome: A Qualitative Survey Study.

Abstract

Study objective: Turner Syndrome (TS) is a genetic condition often characterized by ovarian insufficiency and infertility. Fertility preservation discussions are recommended early in care, but few studies have explored parental perspectives. Our objective was to assess the knowledge, perceptions, and attitudes regarding fertility and fertility preservation among parents of young children with TS.

Methods: An anonymous bilingual survey (English/Spanish) was completed by parents of children under 12 years with TS seen at a multidisciplinary clinic (April 2022 -September 2023). Quantitative data were analyzed using descriptive statistics and Fisher's exact test. Open-ended responses were analyzed using conventional content analysis to identify recurring themes.

Results: Forty-five parents (82% mothers) completed the survey, with 60% identifying as non-Hispanic white (NHW), 20% Hispanic, 11% Black, and 9% other. All were aware of the association of infertility with TS. NHW respondents were more likely to have a higher income, educational status and private insurance (p<0.05). We found differences by race/ethnicity regarding the value of biological parenthood and openness to fertility preservation options as well as factors that contribute to these decisions. Cost emerged as a major consideration across all income groups. Despite high counseling rates (>90%), only 60% of parents recalled fertility discussions. Themes from open-ended responses emphasized cost, procedural risk/benefit, child autonomy, divergent opinions on timing of counseling, and a desire for more information.

Conclusion: This study highlights the varied perspectives and priorities voiced by parents of young children with TS regarding fertility preservation and can inform fertility counseling practices by providers.