[Diastematomyelia diagnosed prenatally]

Area of Science:

• Developmental biology
• Prenatal diagnostics
• Neurology

Background:

• Diastematomyelia is a rare congenital spinal malformation characterized by a longitudinal septum dividing the spinal canal.
• Early detection is crucial for appropriate management and counseling.

Observation:

• A 32-week-old foetus presented with suspected spine abnormality on third-trimester ultrasound.
• Advanced imaging techniques, including CT-scanner and MRI, were employed for detailed anomaly assessment.

Findings:

• The case highlights the utility of advanced imaging in diagnosing complex spinal malformations like diastematomyelia.
• A comprehensive literature review covered embryological origins, clinical features, prenatal diagnosis, and prognostic factors.

Implications:

• Accurate prenatal diagnosis of diastematomyelia enables better genetic and prognostic counseling for expectant parents.
• Understanding the embryological basis may inform future research into prevention or early intervention strategies.