Whole Exome Sequencing with Unexpected Diagnosis in the NICU

  • Clinical Presentation:
    • Team consulted a 24-week-old with no calvarium seen on a fetal MRI
    • Team decided to order whole exome sequencing based on infant’s skull abnormality
    • Family history was obtained. Infant had family history of skull abnormalities
  • BG Test:
    • Critical Trio WES
  • Results:
    • Exome result revealed a pathogenic variant in ALX4
    • The proband and his mother had an additional TWIST1 variant (de novo in mother), explaining the larger skull defect
  • Clinical Management After Test:
    • Cascade testing was able to occur in the family