Carrier testing in fragile X syndrome: when to tell and test

This study explored age preferences about when to learn at-risk status and have carrier testing in women who were undergoing testing for fragile X. Forty-two women (20 carriers and 22 noncarriers) completed a structured interview prior to carrier testing and after learning their result. The majority favored learning at-risk status and carrier status at < 18 years for themselves and their children. Preferred ages fell into four developmental categories: early childhood (0-9), preteen (10-13), teen (14-17), and adult (>or= 18). Although no significant mean changes in age responses were found between interviews or between carrier and noncarrier responses, a difference in the pattern of responses related to age categories was suggested. There appeared to be an increase in the number of responses in the 0-9 category at time 2. Also, the mean ages for testing were older than they were for telling at time 1, but not at time 2. For women indicating ages 0-9, the most frequent reason was to provide children with time to adjust. Those reporting ages 10-13 felt that the onset of puberty as well as a child's ability to understand, adjust, and cope were key determinants. Those preferring the teen years felt the possibility of sexual activity and planning for the future were important considerations. The developmental focus for adults was serious relationships. This study, through its unique longitudinal perspective of transition from uncertainty to certainty, builds on prior knowledge, has implications for genetic counseling, and suggests that the developmental stage of the child is important in determining when to tell and test.