Family planning decisional needs assessment for recessive hereditary disorders: Insights from carrier couples and professionals.

Abstract

Carrier couples of recessive diseases face an important decision-making process regarding their familial planning that can become a significant source of discomfort and potential regrets. To date, no study has described the decisional needs of carrier couples of Leigh syndrome French-Canadian type, hereditary tyrosinemia type 1, hereditary motor and sensory neuropathy with or without agenesis of the corpus callosum and autosomal recessive spastic ataxia of Charlevoix-Saguenay undergoing family planning decision-making process. Our study aimed to describe the decisional needs of carrier couples according to the Ottawa Decision Support Framework. A qualitative descriptive study was conducted. Qualitative individual and joint couple interviews were performed among 39 carrier individuals and 11 health and social care professionals. Carrier couples' decision-making process is complex, and their decisional needs include, among others, sufficient knowledge about the disease and the reproductive options, personal values and available support. Increased decisional conflict was observed among carriers of diseases associated with low morbidity and mortality. Family planning decision-making is an evolutive deliberative process that requires appropriate shared decision-making to insure decisional comfort. Carrier couples family planning decision-making process needs to be better supported.