Solid tumor screening recommendations in trisomy 18

Am J Med Genet A. 2019 Mar;179(3):455-466. doi: 10.1002/ajmg.a.61029. Epub 2019 Jan 13.


The purpose of this study was to determine whether trisomy 18 patients are at an increased risk of tumor development and require formal tumor screening recommendations. A literature search of trisomy 18 patients with reports of tumors or malignancies, and compilation of all previously reported as well as new unreported cases was performed. 67 patients with trisomy 18 were found to have documented malignancies. 44 patients had hepatoblastomas, 21 patients had Wilms tumors, one patient had a functional neurogenic neoplasia, and one patient had Hodgkins lymphoma. The increasing numbers of reported malignancies in patients with trisomy 18 supports the indication for an early screening process. Specific screening recommendations are outlined consisting of imaging exams and laboratory values performed at specific intervals.

Keywords: Wilms tumor; hepatoblastoma; risk; screening; trisomy 18.

Publication types

  • Meta-Analysis

MeSH terms

  • Disease Susceptibility
  • Health Planning Guidelines
  • Humans
  • Mass Screening
  • Neoplasms / diagnosis
  • Neoplasms / epidemiology*
  • Neoplasms / etiology
  • Trisomy 18 Syndrome / complications
  • Trisomy 18 Syndrome / epidemiology*