Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Neurofibromatosis type 1 screening
Introduction
Overview
Overview
Neurofibromatosis type 1 is acquiered 50% of the time by inheritance. Screening is made by taking a family history and a physical examination, and confirmed with genetic testing. Prenatal screening is controversial.
Screening
Screening
- Approximately 50% of individuals with neurofibromatosis type 1 acquiere this condition by inheritance.[1][2][3]
- Screening is made by taking a family history and a physical examination, and confirmed with genetic testing.[3]
- It is important to take into account that family history may be negative in a patient with neurofibromatosis type 1 due to death of parents at an early age.[1]
- There is a general consensus for genetic testing in children presenting with typical features of neurofibromatosis type 1 (neurofibromas, more than 6 cafe au lait macules, Lisch nodules).[4][3]
- Finding of 6 or more cafe au lait macules in patients of young age (less than 8 years old), is highly correlated with the diagnosis of neurofibromatosis type 1 verified by genetic testing.[5][6][3]
- Mutations in NF1 gene can be determined using a combination of molecular techniques, such as dHPLC, direct sequencing, FISH, MLPA and array CGH.[7][8][2]
- Prenatal ultrasound is usually of no utility, but has been reported positive in pregnant patients with severe neurofibromatosis type 1 features.[9]
- Prenatal screening has been controversial due to ethical issues of pregnancy termination in this condition.[1][10]
- Prenatal diagnosis of neurofibromatosis type 1 can be made using cells of embryos as early as 3 day old[2]
Risk to Family Members
- Parents of patients with neurofibromatosis type 1 should be screened with a medical history, ophtalmologic and general physical examination paying particular attention to dermatologic features.[1] If examination results normal in both parents, a de novo mutation is concluded, since mosaicisms are rare.[1][11][12][13]
- Genetic counseling should be offered to all individuals of reproductive age planning to conceive.[1][14][15]
References
References
- ↑ 1.0 1.1 1.2 1.3 1.4 1.5 Invalid
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<ref>tag; no text was provided for refs namedpmid17105749 - ↑ 3.0 3.1 3.2 3.3 Invalid
<ref>tag; no text was provided for refs namedpmid282300613 - ↑ Ruggieri M, Polizzi A, Spalice A, Salpietro V, Caltabiano R, D’Orazi V, Pavone P, Pirrone C, Magro G, Platania N, Cavallaro S, Muglia M, Nicita F (May 2015). “The natural history of spinal neurofibromatosis: a critical review of clinical and genetic features”. Clin. Genet. 87 (5): 401–10. doi:10.1111/cge.12498. PMID 25211147.
- ↑ Nunley KS, Gao F, Albers AC, Bayliss SJ, Gutmann DH (August 2009). “Predictive value of café au lait macules at initial consultation in the diagnosis of neurofibromatosis type 1”. Arch Dermatol. 145 (8): 883–7. doi:10.1001/archdermatol.2009.169. PMID 19687418.
- ↑ DeBella K, Szudek J, Friedman JM (March 2000). “Use of the national institutes of health criteria for diagnosis of neurofibromatosis 1 in children”. Pediatrics. 105 (3 Pt 1): 608–14. doi:10.1542/peds.105.3.608. PMID 10699117.
- ↑ Griffiths S, Thompson P, Frayling I, Upadhyaya M (2007). “Molecular diagnosis of neurofibromatosis type 1: 2 years experience”. Fam. Cancer. 6 (1): 21–34. doi:10.1007/s10689-006-9001-3. PMID 16944272.
- ↑ Messiaen LM, Callens T, Mortier G, Beysen D, Vandenbroucke I, Van Roy N, Speleman F, Paepe AD (2000). “Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects”. Hum. Mutat. 15 (6): 541–55. doi:10.1002/1098-1004(200006)15:6<541::AID-HUMU6>3.0.CO;2-N. PMID 10862084.
- ↑ McEwing RL, Joelle R, Mohlo M, Bernard JP, Hillion Y, Ville Y (December 2006). “Prenatal diagnosis of neurofibromatosis type 1: sonographic and MRI findings”. Prenat. Diagn. 26 (12): 1110–4. doi:10.1002/pd.1560. PMID 16981221.
- ↑ Verlinsky Y, Rechitsky S, Verlinsky O, Chistokhina A, Sharapova T, Masciangelo C, Levy M, Kaplan B, Lederer K, Kuliev A (2002). “Preimplantation diagnosis for neurofibromatosis”. Reprod. Biomed. Online. 4 (3): 218–22. doi:10.1016/s1472-6483(10)61809-3. PMID 12709270.
- ↑ Lázaro C, Gaona A, Lynch M, Kruyer H, Ravella A, Estivill X (November 1995). “Molecular characterization of the breakpoints of a 12-kb deletion in the NF1 gene in a family showing germ-line mosaicism”. Am. J. Hum. Genet. 57 (5): 1044–9. PMC 1801366. PMID 7485153.
- ↑ Trevisson E, Forzan M, Salviati L, Clementi M (April 2014). “Neurofibromatosis type 1 in two siblings due to maternal germline mosaicism”. Clin. Genet. 85 (4): 386–9. doi:10.1111/cge.12177. PMID 23621909.
- ↑ Bottillo I, Torrente I, Lanari V, Pinna V, Giustini S, Divona L, De Luca A, Dallapiccola B (June 2010). “Germline mosaicism in neurofibromatosis type 1 due to a paternally derived multi-exon deletion”. Am. J. Med. Genet. A. 152A (6): 1467–73. doi:10.1002/ajmg.a.33386. PMID 20503322.
- ↑ van Minkelen R, van Bever Y, Kromosoeto JN, Withagen-Hermans CJ, Nieuwlaat A, Halley DJ, van den Ouweland AM (April 2014). “A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands”. Clin. Genet. 85 (4): 318–27. doi:10.1111/cge.12187. PMID 23656349.
- ↑ Merker VL, Murphy TP, Hughes JB, Muzikansky A, Hughes MR, Souter I, Plotkin SR (March 2015). “Outcomes of preimplantation genetic diagnosis in neurofibromatosis type 1”. Fertil. Steril. 103 (3): 761–8.e1. doi:10.1016/j.fertnstert.2014.11.021. PMID 25557241.
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Moises Romo M.D.