Family Planning

Are There Prenatal Tests For The Neurofibromatoses?

Genetic testing is available for families with documented cases of Neurofibromatosis Type1 and Type 2. Genetic analysis can be used to confirm clinical diagnosis of the disorder is a result of familial inheritance. New (spontaneous) mutations can sometimes but not always be confirmed genetically. Prenatal diagnosis of familial Neurofibromatosis Type 1 or Neurofibromatosis Type 2 is also possible utilizing amniocentesis or chorionic villus sampling procedures if a parent is diagnosed with Neurofibromatosis Type 1 or Neurofibromatosis Type 2 . Genetic counsellors can provide information about these procedures and offer guidance in coping with the neurofibromatosis.