Preconception and Pregnancy Considerations for the Patient with Neurofibromatosis

Bilir RA, KARAALP İL, Karateke A. Neurofibromatosis and pregnancy. J Clin Obstet Gynecol. 2020;30:153–6.

Article  Google Scholar 

Dugoff L, Sujansky E. Neurofibromatosis type 1 and pregnancy. Am J Méd Genet. 1996;66:7–10.

Article  PubMed  CAS  Google Scholar 

Kim T-K, Park Y-S, Nakagawa I. Clinical and genetic overview of neurofibromatosis type 2 (NF2). J Korean Neurosurg Soc. 2025;68:272–7.

Article  PubMed  PubMed Central  Google Scholar 

Kim B-H, Chung Y-H, Woo T-G, Kang S, Park S, Kim M, et al. NF2-Related schwannomatosis (NF2): molecular insights and therapeutic avenues. Int J Mol Sci. 2024;25:6558.

Article  PubMed  PubMed Central  CAS  Google Scholar 

Nastac A, Panaitescu AM, Huluță I, Gică N, Gorecki G-P, Botezatu R, et al. Maternal and fetal complications in pregnant women with neurofibromatosis type 1: literature review and two case reports. J Clin Med. 2025;14:451.

Article  PubMed  PubMed Central  CAS  Google Scholar 

Hassel JC, Livingstone E, Allam JP, Behre HM, Bojunga J, Klein HH, et al. Fertility preservation and management of pregnancy in melanoma patients requiring systemic therapy. ESMO Open. 2021;6:100248.

Article  PubMed  PubMed Central  CAS  Google Scholar 

Dahiya S, Mukherjee S, Premi H. Neurofibromatosis in pregnancy. Int J Adv Integr Méd Sci. 2016;1:91–2.

Google Scholar 

Terry AR, Barker FG, Leffert L, Bateman BT, Souter I, Plotkin SR. Neurofibromatosis type 1 and pregnancy complications: a population-based study. Am J Obstet Gynecol. 2013;209:e461–8.

Article  Google Scholar 

Anastasaki C, Orozco P, Gutmann DH. RAS and beyond: the many faces of the neurofibromatosis type 1 protein. Dis Model Mech. 2022;15:dmm049362.

Article  PubMed  PubMed Central  CAS  Google Scholar 

Vernimmen V, Paulussen ADC, Dreesen JCFM, van Golde RJ, Esteki MZ, Coonen E, et al. Preimplantation genetic testing for neurofibromatosis type 1: more than 20 years of clinical experience. Eur J Hum Genet. 2023;31:918–24.

Article  PubMed  PubMed Central  Google Scholar 

Pacot L, Vidaud D, Ye M, Chansavang A, Coustier A, Maillard T, et al. Prenatal diagnosis for neurofibromatosis type 1 and the pitfalls of germline mosaics. Npj Genom Med. 2024;9:41.

Article  PubMed  PubMed Central  CAS  Google Scholar 

Legius E, Messiaen L, Wolkenstein P, Pancza P, Avery RA, Berman Y, et al. Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation. Genet Med. 2021;23:1506–13.

Article  PubMed  PubMed Central  Google Scholar 

Bettegowda C, Upadhayaya M, Evans DG, Kim A, Mathios D, Hanemann CO, et al. Genotype-Phenotype correlations in neurofibromatosis and their potential clinical use. Neurology. 2021;97:S91–8.

Article  PubMed  PubMed Central  CAS  Google Scholar 

Friedman JM. Neurofibromatosis 1. GeneReviews. 2025.

Idler J, Turkoglu O, Patek K, Stuart S, Taskin B, Sivaswamy L, et al. Neurocutaneous disorders in pregnancy. Obstet Gynecol Surv. 2023;78:606–19.

Article  PubMed  Google Scholar 

Stewart DR, Korf BR, Nathanson KL, Stevenson DA, Yohay K. Care of adults with neurofibromatosis type 1: a clinical practice resource of the American college of medical genetics and genomics (ACMG). Genet Med. 2018;20:671–82.

Article  PubMed  Google Scholar 

Akbarzadeh MA, Vaez-Gharamaleki Y, Hosseini M-S. Mirdametinib approval for neurofibromatosis type 1 with inoperable plexiform neurofibromas: the journey of MEK inhibitors. ESMO Rare Cancers. 2025;100015.

Terry AR, Merker VL, Barker FG, Leffert L, Bateman BT, Souter I, et al. Pregnancy complications in women with rare tumor suppressor syndromes affecting central and peripheral nervous system. Am J Obstet Gynecol. 2015;213:108–9.

Article  PubMed  Google Scholar 

Leppävirta J, Kallionpää RA, Uusitalo E, Vahlberg T, Pöyhönen M, Timonen S, et al. The pregnancy in neurofibromatosis 1: A retrospective register-based total population study. Am J Méd Genet Part A. 2017;173:2641–8.

Article  PubMed  Google Scholar 

Kenborg L, Boschini C, Bidstrup PE, Dalton SO, Doser K, Nielsen TT, et al. Pregnancy outcomes in women with neurofibromatosis 1: a Danish population-based cohort study. J Méd Genet. 2022;59:237–42.

Article  PubMed  Google Scholar 

Kitamoto M, Narumi M, Oda T, Tamura N, Uchida T, Itoh H. Pregnancy complicated by neurofibromatosis type 1 in a patient with a history of massive spontaneous hemothorax: a case report. Hypertens Res Pregnancy. 2022;10:121–4.

Article  Google Scholar 

McEwing RL, Joelle R, Mohlo M, Bernard J, Hillion Y, Ville Y. Prenatal diagnosis of neurofibromatosis type 1: sonographic and MRI findings. Prenat Diagn. 2006;26:1110–4.

Article  PubMed  Google Scholar 

Dagalakis U, Lodish M, Dombi E, Sinaii N, Sabo J, Baldwin A, et al. Puberty and plexiform neurofibroma tumor growth in patients with neurofibromatosis type I. J Pediatr. 2014;164:620–4.

Article  PubMed  CAS  Google Scholar 

Geller M, Mezitis SGE, Nunes FP, Ribeiro MG, Araújo AP, de Bronstein QC. MD, Progesterone and Estrogen receptors in neurofibromas of patients with NF1. Clin Med Insights: Pathol. 2008;1:CPath.S1002.

Kallionpää RA, Määttänen J, Leppävirta J, Peltonen S, Peltonen J. Pregnancy and the risk for cancer in neurofibromatosis 1. Genes. Chromosom Cancer. 2025;64:e70017.

Google Scholar 

Mitra P, Pradhan A, Ghosh S, Chaudhary K. Neurofibromatosis in pregnancy: the pitfalls. Int J Clin Obstet Gynaecol. 2025;9:91–3.

Article  Google Scholar 

Plotkin SR, Messiaen L, Legius E, Pancza P, Avery RA, Blakeley JO, et al. Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: an international consensus recommendation. Genet Med. 2022;24:1967–77.

Article  PubMed  CAS  Google Scholar 

Forde C, King AT, Rutherford SA, Hammerbeck-Ward C, Lloyd SK, Freeman SR, et al. Disease course of neurofibromatosis type 2: a 30-year follow-up study of 353 patients seen at a single institution. Neuro-Oncol. 2020;23:1113–24.

Article  PubMed Central  Google Scholar 

Evans DgR. Neurofibromatosis type 2 (NF2): A clinical and molecular review. Orphanet J Rare Dis. 2009;4:16.

Article  PubMed  Google Scholar 

Brown CM, Ahmad ZK, Ryan AF, Doherty JK. Estrogen receptor expression in sporadic vestibular schwannomas. Otol Neurotol. 2011;32:158–62.

Article  PubMed  PubMed Central  Google Scholar 

Beatty CW, Scheithauer BW, Katzmann JA, Roche PC, Kjeldahl KS, Ebersold MJ. Acoustic Schwannoma and pregnancy: A DNA flow cytometric, steroid hormone receptor, and proliferation marker study. Laryngoscope. 1995;105:693–700.

Article  PubMed  CAS  Google Scholar 

Morris KA, Golding JF, Axon PR, Afridi S, Blesing C, Ferner RE, et al. Bevacizumab in neurofibromatosis type 2 (NF2) related vestibular schwannomas: a nationally coordinated approach to delivery and prospective evaluation. Neuro-Oncol Pr. 2016;3:281–9.

Article  Google Scholar 

Spiegel JE, Hapgood A, Hess PE. Epidural anesthesia in a parturient with neurofibromatosis type 2 undergoing Cesarean section. Int J Obstet Anesth. 2005;14:336–9.

Article  PubMed  CAS  Google Scholar 

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