However this is generally considered more hazardous than the condition except in exceptional circumstances. Inheritance patterns Autosomal recessive, carriers can now be detected. This is possible at 18 plus weeks through a fetal blood sample. However where the child is affected the result may be fatal. Unaffected or carrier fetuses will not undergo any special risk from the testing.
Genetic counselling is available.
This is a Contact Group founded in 1990. The families of 5 affected children Subscription Donations only Contact a Family is a UK charity which helps families who care for children with any disability or special need. We are a main source of information about rare disorders and are able to assist affected adults as well as children. The CaF Directory Online contains details of many medical conditions and also patient support groups. The information in it is also provided as part of the NHS Direct Online service.