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