Course: Incidental Genetic Finding in a Fetus
CME Credits: 1.00
Released: 2023-12-28
A 37-year-old woman, gravida 1 para 0, at 29 weeks’ gestation, underwent amniocentesis due to a suspected polycystic kidney detected on routine fetal ultrasonography. While no genetic abnormality associated with polycystic kidney was identified (whole-exome sequencing Invitae), an incidental finding of a heterozygous c.501-2 A<G sequence variant (SV) in the RB1 gene was noted. This specific RB1 SV had not been previously reported in any genetic databases, but was deemed pathogenic by Invitae, the commercial laboratory, in line with the American College of Medical Genetics and their guidelines for interpretation of sequence variants.1 No intraocular tumors were found on fetal sonography. There was no discernable family history of retinoblastoma or ocular disorders, and complete ophthalmic evaluation of both parents was normal with no suspected retinomas.
Educational Objective
Based on this clinical scenario and the accompanying image, understand how to arrive at a correct diagnosis.
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