Managing fetuses at high risk of retinoblastoma: lesion detection on screening MRI

Prenat Diagn. 2015 Feb;35(2):174-8. doi: 10.1002/pd.4514. Epub 2014 Nov 27.

Abstract

Objective: This study aimed to describe tumour identification on magnetic resonance imaging (MRI) in a 35-week fetus with familial retinoblastoma (RB) and report the use of prenatal ultrasound (US) and MRI screening in the management of fetuses at high risk of RB.

Method: This is a retrospective review of the prenatal course and immediate postnatal findings in all children considered at high risk of RB who had prenatal imaging with both US and MRI at our institution over a 5-year period.

Results: Five patients met the inclusion criteria. No lesions were identified on US in any patients. Fetal MRI identified bilateral posterior pole lesions in one patient at 35 weeks' gestation. Of the four remaining patients, three developed lesions by 5 weeks of age. Only one fetus was delivered early following detection of RB.

Conclusion: We present the first reported case of RB detected in a high-risk fetus on screening MRI at 35 weeks' gestation. A protocol for screening this population using both imaging modalities is presented.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Female
  • Humans
  • Magnetic Resonance Imaging
  • Pregnancy
  • Prenatal Diagnosis
  • Retinal Neoplasms / congenital*
  • Retinal Neoplasms / diagnosis
  • Retinal Neoplasms / genetics
  • Retinoblastoma / congenital*
  • Retinoblastoma / diagnosis
  • Retinoblastoma / genetics
  • Retinoblastoma Protein / genetics
  • Retrospective Studies

Substances

  • Retinoblastoma Protein