The effect of diagnosis

Down syndrome is the most common disorder recognizable at birth and known to be likely to be associated with mental retardation. Despite screening in early pregnancy, it is still common but is now often the child of younger parents. Genetic diagnosis of unusual children is more rapid than hitherto. Parents are almost without exception relieved by a clear diagnosis, an explanation of why it has happened, and an estimate of future risk. Most families are also greatly helped by meeting others with similar problems. Parent support groups for each specific diagnosis are now worldwide and recruits are quickly introduced to information via the Internet. The diagnosis can have implications for other members of the family, as with fragile X syndrome or tuberose sclerosis, as some relatives may have a minor form or be carriers, with a risk of further children in the family being affected. Genetic counselling is essential and may be requested very early on, even preconception. To be preventative, decisions have to be made fast and at times when young couples are at their most vulnerable. (3)

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