Carrier testing of children for two X-linked diseases: a retrospective evaluation of experience and satisfaction of subjects and their mothers.

Carrier testing of children for inherited disease that will not affect the health of the children themselves but of their future children is generally regarded as problematic. In this retrospective study, we determined how young women had experienced genetic carrier testing when they were children. The families of 66 young females who had been tested for carriership during childhood between 1984 and 1988, were approached. Of them, 23 young females in families affected by Duchenne muscular dystrophy, and 23 young females in families affected by hemophilia A, and their mothers, participated in our study. We used a questionnaire including multiple-choice and open-ended questions. We recorded general attitudes to testing, satisfaction with testing, degree of trust in test results, making decisions regarding testing, privacy, and opinions about age at testing. Thirty-five out of 46 of the young women tested (76%) were satisfied with carrier testing in childhood. However, the young women in whom the test result...