Incidental Genetic Finding in a Fetus

JAMA Ophthalmol. 2024 Feb 1;142(2):155-156. doi: 10.1001/jamaophthalmol.2023.5884.
No abstract available

Plain language summary

A 37-year-old woman presented with suspected polycystic kidney detected on routine fetal ultrasonography, and an incidental finding of a heterozygous c.501-2 A<G sequence variant in the RB1 gene was noted. What would you do next?

MeSH terms

  • Fetus* / diagnostic imaging
  • Humans
  • Mutation