[多發性神經纖維瘤](英名NEUROFIBROMATOSIS，下稱[NF])，分為[NF1]及[NF2]二型。[NF]是基因異常而導致的遺傳疾病。雙親之一本身為[NF]患者，或者，雙親的精子或精子或卵子的新的或自然的突變，可能會將[NF]遺傳給下一代。如果父親或母親是[NF]患者，即有50%的機率會將[NF]遺傳給小孩。[NF]的遺傳型態是一樣的，也就是，父或母是[NF1]，其小孩有50%[NF1]的遺傳機率；父或母是[NF2]，其小孩有50%[NF2]的遺傳機率。但是，即使是同一[NF]家庭成員，其[NF]的表現症狀及嚴重程度，卻因人而異，無法預估。
當先生或妻子為[NF]患者時，他們也許會為是否有下一代而困擾。沒有人能為任何人決定這種事。但是，也許用歸納一些常關心到的表示方法，可能有所幫助。
50—50 的風險
如果父親或母親是[NF]患者，於懷孕時，即有50%的機率會遺傳下去。比較起來，一般的夫婦也會有約4到7%的機率有各種問題的小孩。
父親或母親不是[NF]患者，但有因基因突變為[NF]的小孩者，其下次懷孕並不是有50—50的風險。他們懷有另一個[NF1]的小孩的機率，是與一般的夫婦懷有的機率是一樣的。在8000個新生兒中有1個[NF1]的新生兒由一般的夫婦生下；另外1個[NF1]的新生兒由夫婦是[NF1]患者生下，因此，新生兒是[NF1]患者的機率是8000分之2，也就是4000分之1。但是，為了要正確的評估風險，已產下有[NF1]小孩的夫婦，一定要由瞭解[NF]疾病的醫師來確認夫與婦二人都不是輕微症狀的NF病患(mild case of NF)，來排除夫與婦為NF病患的可能性。
父親或母親不是[NF]患者，但因基因突變為[NF]的小孩，則有二分之一的機會產下[NF]的小孩。
不可預測性
[NF1]導致的症狀很多，而且無法預知症狀的多寡及嚴重程度。父母親的[NF1]症狀並無法推測其[NF1]子女的症狀的多寡及輕微或嚴重程度。
幫助作決定的方法
遺傳諮詢可協助夫婦作決定的參考。遺傳諮詢醫師並不直接告訴夫婦如何作。但是，遺傳諮詢醫師提供資訊、確認問題、而且也可解釋可能的取代方法，如認養或人工受孕等。經由遺傳諮詢醫師的協助，夫婦可受鼓勵而做出適合他們的決定。
大部份的大學院皆提供遺傳諮詢服務。
[美國NF基金會]得到美國Roche Biomedical公司允諾，[美國NF基金會]的會員將有30%的折扣費用。Roche正常的檢測費用為，家族的第一人費用為美金500元；同一家族的成員每人美金350元。因此，[美國NF基金會]的會員價是，家族的第一人費用為美金350元；同一家族的成員每人美金240元。
個人及家庭對新的基因的診斷方法有興趣者，應該與他們的醫師討論基因檢測的合適性。[美國NF基金會]的會員應告訴醫師關於折扣費用。醫師可與Roche Diagnostic Genetics 電：(800)345-GENE得到更多訊息註2。
雖然可以利用基因關連性比對或基因直接比對(如果已確認家族基因變異點)來做產前檢查，但是在美國，高[NF1]出生風險的家庭並不是大部份的人都會這麼做的。因為大部份的[NF1]患者並不會有致命的併發症。而這項檢測的結果，只能確認胎兒是否會成為[NF1]，而無法檢測出[NF1]病情的輕重程度。

註1：本資料節錄自[美國NF基金會](英名NATIONAL NEUROFIBROMATOSIS FOUNDATION，簡稱NNFF)所提文獻。
[美國NF基金會]成立已20年，會員上萬人，是為[NF]單一疾病的服務及研究而成立，其關門之日，即為[NF]治癒之時。[美國NF基金會]有專屬網站，可取得[NF]有關的所有資訊，其網址為WWW.NF.ORG。
[美國NF基金會]資料為：
The National Neurofibromatosis Foundation, Inc.
95 Pine Street, 16th Floor, New York, NY 10005, U.S.A.
傳真：212-747-0004 e-mail：NNFF@nf.org

[美國NF基金會]接受捐款，加入[美國NF基金會]會員(年費美金35元)或捐款使其可：

1. 幫助集合科學家對[NF]的基礎研究與瞭解，並發展出[NF]的藥物臨床測試。
2. 協助社會大眾對[NF]的關懷。協助對[NF]患者的服務。
3. 成為[美國NF基金會]的會員。
4. 可收到[美國NF基金會]的季刊、最新研究文獻及[美國NF基金會]專書折扣價。
5. 讓[NF]聲音壯大，促使美國參議員投票通過美國政府對[NF]研究的預算，加速科學家的研究進展，以造福全世界的[NF]患者。

2002年美國政府批准美金2100萬元(約新台幣7億元)的[NF]研究經費。但因政府補助的研究經費是逐年編列的，不代表明年或其後研究經費無虞，因此讓[NF]聲音在美國壯大，才是永續的研究經費取得的方法之一。
雖然在罕見疾病中，[NF]是較常見的，國內目前並無[NF]病友的常設組織，也許[NF]病友們會覺得比較寂寞且無助。但是，[美國NF基金會]集合了[NF]病友及研究[NF]的科學家，喚起了美國大眾及美國政府對[NF]的瞭解及經費支助。2000年也開始了[NF]腫瘤藥物的人體測試，也許5年至10年內，會有預防或治療[NF]腫瘤或其他症狀的藥物出現，使[NF]患者及其家屬能免於身心的痛苦。國人亦可支助[美國NF基金會]，國人如欲捐款，可寄[旅行支票]給[美國NF基金會]，雖然他們不一定能直接給予國內[NF]患者及家屬最直接的幫助，可是他們保證將每一分捐款，用在[NF]的相關醫療研究上，其研究成果，最後亦將直接回饋到每一[NF]患者及家屬上。
註2：因本文為[美國NF基金會]提供，因此所列的[NF]基因的檢測公司為美國的公司。國人對基因的檢測有需求者，還是要先詢問各大醫院的遺傳諮詢醫師，是否可在台灣做相同的檢測，或須要將檢體送至美國檢測。

Deciding Whether to have a child
Both forms of NF are autosomal dominant genetic disorders which may be inherited from a parent who has NF or may be the result of a new or spontaneous mutation (change) in the sperm or egg cell. Each child of a parent with NF has a 50% chance of inheriting the gene and developing NF. The type of NF inherited by the child is always the same as that of the affected parent (i.e. if the parent has NF1, each child is at 50% risk for NF1. If the parent has NF2, each child has a 50% chance to inherit NF2), although the severity and the kind of manifestations may differ from person to person within a family.
When a husband or wife has NF, some couples may find it difficult to decide whether to have a child. No one can make this decision for anyone else. It may be helpful, however, to summarize some of the concerns that are often expressed.
The 50-50 risk:
A parent with NF has a 50% risk with each pregnancy to have a child with NF. This can be compared to the 4 to 7% risk of any couple in the general population to have a child born with a serious problem.
Unaffected parents who have a child born with NF because of a spontaneous mutation do not have a 50-50 risk in future pregnancies. Their chance for another child with NF1 is about the same as that of any couple in the general population, that is, one chance in 8,000. One additional birth in every 8,000 results in a child who has inherited NF1 from a parent with the disorder. Thus, a total of 2 children in 8,000 or 1 in 4,000 are born with NF1. In order to assess their risks accurately, however, it is essential for parents of an affected child to be examined by a knowledgeable physician to be as certain as possible that neither of them has a mild case of NF.
The child with NF, as a result of a new mutation, does have the 50-50 chance of passing the NF gene on to his or her children.
Unpredictability:
NF1 is variable and unpredictable. A parent's case gives no indication of how severe or mild a child's case will be, or what NF1 complications a child will have.
Help With Making The Decision
Genetic counseling can help couples to work through the decision-making process. Genetic counselors do not tell couples what to do. Instead, they provide information, clarify issues, and can also explain possible alternatives, such as adoption or artificial insemination. In this way, the couple is encouraged, with the support of the counselor, to arrive at a decision that is right for them.
Most university-based medical centers and major hospitals offer genetic counseling services.
The NF Foundation has obtained a commitment from Roche Biomedical that NF Foundation members will receive a 30% discount for the service. The normal charge for the test is $500 for the first family member and $350 for each additional person. Foundation members pay $350 for the first test, with additional family members charged $245 each.
Individuals and families interested in the new diagnostic service should consult their physician as to the appropriateness of the test. NNFF members should inform the doctor of the NF Foundation discount. Physicians can call Roche Diagnostic Genetics at (800) 345-GENE for more information.
Few families at risk for NF1 request prenatal diagnosis for the disease, although prenatal diagnosis can be provided by linkage or direct mutation analysis (if a specific mutation has been identified in the family). It is not surprising that prenatal diagnosis of NF1 is unpopular -- most affected patients do not have life-threatening complications, and prenatal diagnosis can only identify whether or not a fetus will develop NF1, not whether serious complications of the disease will occur.