Prenatal diagnosis of neurofibromatosis type 1: sonographic and MRI findings

Prenat Diagn. 2006 Dec;26(12):1110-4. doi: 10.1002/pd.1560.

Abstract

Prenatal ultrasound and magnetic resonance imaging (MRI) demonstrated a large oropharyngeal tumor, and cardiac and cranial abnormalities consistent with neurofibromatosis type 1 (NF1) in a third-trimester fetus, which were confirmed on postmortem examination. Sonographic features of NF1 are generally nonspecific; MR examination provided significant additional information, facilitating prenatal diagnosis.

Publication types

  • Case Reports

MeSH terms

  • Abortion, Induced
  • Adult
  • Female
  • Fetal Diseases / diagnosis*
  • Fetal Diseases / diagnostic imaging
  • Genetic Counseling
  • Humans
  • Magnetic Resonance Imaging*
  • Male
  • Neurofibromatosis 1 / diagnosis*
  • Neurofibromatosis 1 / diagnostic imaging
  • Neurofibromatosis 1 / pathology
  • Pregnancy
  • Prenatal Diagnosis / methods
  • Ultrasonography, Prenatal