Parents' experiences of receiving the diagnosis of Turner syndrome: an explorative and retrospective study.

Turner syndrome (TS) is a sex-chromosome disorder occurring in approximately 1:2500 female births. In this explorative and retrospective study, 44 parents (33 mothers and 11 fathers) from different families, each containing a girl with TS, were interviewed to explore their perceptions and experiences of the diagnostic process, including the period of investigation and the time when the diagnosis was given. There was wide variation in degree of retrospection in this study; one parent who was interviewed had a daughter of 17 years of age who was diagnosed before 1 month of age. On the other hand, two girls had been diagnosed only 6 months before their parents were interviewed. Most parents (n=27) reported that it was professionals who observed that their daughter should be referred for investigation, and the remainder (n=17) reported that they themselves perceived the need for investigation. Their experiences were found to affect the parents' descriptions of the diagnostic process. The parents who initiated the investigation themselves described the diagnosis in terms of confirmation of their own suspicions. When professionals initiated the investigation the parents reported that they felt unprepared when they received the diagnosis. The results of this study indicate that the parents' experiences of receiving the diagnosis of TS appear to depend on the ability of the doctor to provide relevant information and to manage the psychosocial aspects correctly. A better understanding of parents' experiences should enable health professionals to counsel parents more effectively concerning the diagnosis of TS.