EP05.40: Presentation of a rare case of antenatal screening for diastematomyelia using antenatal fetal ultrasound and MRI

Diastematomyelia is characterised by the division of the spinal cord in the sagittal plane, resulting in two hemimyelae. It may occur in isolation or be associated with a bony spur and abnormalities in vertebral segmentation. Antenatal diagnosis is currently achievable through the utilisation of ultrasound and fetal magnetic resonance imaging (MRI). We present a case report of JB, aged 28, gravida 2, with two healthy living children. The initial fetal ultrasound at 12 weeks revealed a nuchal translucency of 1.87 mm. The triple test yielded a low risk of Down syndrome. At the 22-week ultrasound examination, major bilateral ventriculomegaly secondary to lumbar myelomeningocele, splitting of the spinal canal, presence of a bone spur, and probable diastematomyelia were observed. Fetal MRI depicted a cluster of lesions associated with major spinal dysraphism, including lumbar myelomeningocele, Chiari 2 malformation, significant ventriculomegaly, and probable diastematomyelia. Therapeutic termination of pregnancy (ITG) was recommended. Fetopathological examination subsequently confirmed the presence of these lesions. In conclusion, prenatal evaluation enables differentiation between favourable and unfavourable prognoses, facilitating refinement of obstetric decisions.