Type 1 neurofibromatosis

The only consideration for prevention is avoidance of transmitting NF1 from an affected parent. Genetic counseling provides access to four available approaches to such prevention:

• Avoidance of conception

• Artificial insemination by donor for an affected man or use of a donor egg for an affected woman

• Preimplantation diagnosis with selective implantation of mutation-free conceptuses

• Prenatal diagnosis with termination of the pregnancy if the fetus is affected with NF1.

A strong working relationship with the patient's primary care physician and the physician at the NF specialty clinic is necessary. Also, involvement with a local or national NF support group may be helpful in minimizing the impact and progression of the disorder. Children's Tumor Foundation Opens in new window Neurofibromatosis Society of Ontario Opens in new window Nerve Tumours UK Opens in new window

Screening for the presence of occult features of NF1 remains controversial, with particular regard for optic pathway gliomas.[35]Listernick R, Ferner RE, Liu GT, et al. Optic pathway gliomas in neurofibromatosis-1: controversies and recommendations. Ann Neurol. 2007 Mar;61(3):189-98. http://www.ncbi.nlm.nih.gov/pubmed/17387725?tool=bestpractice.com Many NF specialty clinics do screen for presymptomatic optic pathway gliomas using neuroimaging. IQ/psychological testing of school-aged patients with NF1 is generally recommended, although there are no formal guidelines in this regard.[9]Riccardi VM. Neurofibromatosis: phenotype, natural history and pathogenesis. 2nd ed. Baltimore, MD: Johns Hopkins University Press; 1992.