Likely pathogenic variant in the BICD2 gene in fetus presenting with non‐immune hydrops

Trio exome sequencing was performed on a fetus with severe hydrops fetalis at 21+0 weeks gestation. A novel de novo BICD2 missense variant was identified in the fetus. Pathogenic variants in the BICD2 gene are associated with lower extremity‐predominant spinal muscular atrophy. The variant was initially classified as a variant of uncertain clinical significance (VUS) as, at the time of analysis and initial report, pathogenic variants in the BICD2 gene specifically had not been associated with fetal hydrops and no other abnormalities had been detected. However, the pregnancy was terminated, and post‐mortem findings were in keeping with a BICD2‐pathogenic variant. This case demonstrates the importance of reporting these new genes/phenotypes in enabling others to classify variants, staying up‐to‐date with literature and following up phenotypes for class 3 variants of interest.