Neurofibromatosis type 1 and pregnancy

Am J Med Genet. 1996 Dec 2;66(1):7-10. doi: 10.1002/(SICI)1096-8628(19961202)66:1<7::AID-AJMG2>3.0.CO;2-R.


Neurofibromatosis Type 1 (NF-1) is an autosomal dominant condition which has markedly variable clinical expression, with manifestations ranging from mild cutaneous lesions to severe orthopedic complications and functional impairment. The current obstetrical literature indicates that women with NF-1 have increased complications associated with pregnancy. However, the majority of publications are case reports involving no more than 11 patients each, and are likely biased toward reporting on cases in which complications occurred. This study presents data on pregnancy outcome in 105 women with NF-1. The data were obtained from questionnaires completed by the study participants, and by review of their pregnancy and peripartum medical records. The 105 women had a total of 247 pregnancies, resulting in 182 live births, 44 first trimester spontaneous abortions, 21 elective terminations, and 2 ectopic pregnancies. There were two sets of twins. The cesarean section rate in our series (36%) was greater than the general population rate (9.1-23.5%). In 7 of these patients, the cesarean section was required because of maternal NF-1 complications. The study did not show the previously reported increased incidence of preeclampsia, preterm delivery, intrauterine growth restriction, pregnancy-induced hypertension, stillbirth, spontaneous abortion, or perinatal mortality. Sixty-four (60%) of the one hundred five women reported growth of new neurofibromas during pregnancy and fifty-five (52%) noted enlargement of existing neurofibromas. Nineteen women observed no changes in the size of their neurofibromas and no growth of new neurofibromas during pregnancy.

MeSH terms

  • Cesarean Section
  • Female
  • Humans
  • Infant, Newborn
  • Male
  • Neurofibromatosis 1 / genetics*
  • Neurofibromatosis 1 / pathology
  • Pregnancy
  • Pregnancy Complications, Neoplastic* / pathology