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Neural Tube Defects (Spina Bifida, Myelomeningocele, Encephalocele)
Definition |
Bony vertebral or skull defect with neural content exposure |
| Incidence | 0.4/1000 |
| Diagnosis | Ultrasound appearance of spina bifida with Chiari malformation in posterior brain, "lemon" shaped skull and borderline ventriculomegaly |
| Gestation at diagnosis | 18-22 weeks |
| Known cause, chromosomal or genetic association | Yes, if isolated chromosoal abnormalities in 4%. Also known association with anticonvulsants such as sodium valproate and carbamazepine (1%) |
| Further investigations | Consider karyotype. MRI |
| Differential Diaganosis | Sacrococcygeal teratoma Isolated scoliosis/kyphosis (usually from vertebral bony abnormality eg hemivertebrae) Amniotic band syndrome |
| Prognosis | Dependent on level of involvement of defect and contents |
| Recurrance risk | 5% without treatment reduced to 1% with pre-conceptual high dose folic acid |
| Research Studies | Randomised controlled trial of Inositol for prevention |
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