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As part of a two-generational study of the way in which Neurofibromatosis type1 (NF1) affects families, thirty young adults (aged between 21 and 35) have been interviewed. Individuals were drawn from both families with a history of NF1 and those in which the disorder had arisen as a result of a new mutation. Even in families where there are other affected members this was not necessarily known about at the time of the index person's birth; thus the age of diagnosis varied in both groups. The severity of the disorder varied, with some subjects only mildly affected while others experienced major complications. This paper reports on these young adults' experiences of and attidudes to reproduction and prenatal diagnosis. Some of the factors which may influence these attitudes are considered, including: i) the way in which they had been given the diagnosis; in particular, a number of individuals clearly recalled that they were simply given the name of the condition and told not to have children. ii) whether or not individuals have received genetic counselling or information about the option of prenatal diagnosis. iii) the fact that prenatal diagnosis cannot predict the severity of the condition in an affected pregnancy. iv) the way in which individuals' experiences of NF1 change with time and with pregnancy outcomes.


Journal article


Genetic Counseling

Publication Date