Spina bifida is a birth defect in which the bones of the spine and sometimes the spinal cord do not close fully during the first month of pregnancy. It ranges from spina bifida occulta, a hidden and usually harmless gap in a vertebra, to myelomeningocele, in which the spinal cord and nerves lie exposed in a sac on the baby's back.
Myelomeningocele causes lasting nerve damage below the level of the opening. It affects leg movement, bladder and bowel control and is often accompanied by hydrocephalus. Surgery closes the defect but does not restore nerves that are already damaged. With coordinated lifelong care, most children grow up to attend school and to work as adults.
Symptoms
- An open sac or defect on the back at birth, in myelomeningocele
- Weakness or paralysis of the legs, depending on the level
- Reduced sensation in the legs and feet
- Bladder and bowel incontinence, with urinary infections
- An enlarging head from hydrocephalus
- Club foot, hip dislocation or scoliosis
- In hidden forms: a dimple, a tuft of hair, a fatty lump or a birthmark over the lower spine
- Later worsening of walking, back pain or bladder function caused by a tethered cord
Causes and risk factors
The neural tube normally closes by about day 28 after conception, often before a woman knows she is pregnant. Failure to close results from a combination of genetic and environmental factors. Too little folate is the best established factor. Others include diabetes in the mother, obesity, certain anti-seizure medicines such as valproate, and a previously affected pregnancy. Taking 400 micrograms of folic acid daily from before conception until 12 weeks prevents a large proportion of cases. Women at higher risk are advised to take 4 to 5 mg.
How it is diagnosed
- Prenatal ultrasound: Most open defects are detected at the anomaly scan at 18 to 22 weeks, or earlier, through signs in the brain and spine.
- Maternal blood AFP and fetal MRI: Support the diagnosis and define the level and associated brain findings.
- Examination of the newborn: Assesses the level of the lesion, leg movement and the hips and feet.
- Head ultrasound and MRI: Monitor hydrocephalus and the Chiari II malformation.
- Kidney ultrasound and urodynamic tests: Begun in the first months of life to protect the kidneys.
- Spinal MRI: For skin markers over the spine, or for later deterioration that suggests a tethered cord.
Treatment options
- Postnatal closure: A neurosurgeon closes the defect within 24 to 72 hours of birth to prevent infection.
- Fetal surgery: Repair before birth, between 19 and 26 weeks, in strictly selected pregnancies. It reduces the need for a shunt and improves leg function, but it raises the risk of premature birth and carries risks for the mother. Only a few centres offer it.
- Treatment of hydrocephalus: A ventriculoperitoneal shunt or endoscopic third ventriculostomy.
- Bladder and bowel programme: Clean intermittent catheterisation, medicines that relax the bladder, bowel washout routines and, in some children, reconstructive surgery.
- Orthopaedic care and mobility: Braces, physiotherapy, surgery for the feet, hips or scoliosis, and wheelchairs when needed.
- Untethering surgery: For children or adults whose function deteriorates because the spinal cord is tethered.
- Transition to adult services: Including attention to skin care, weight, sexual health and independence.
When it is urgent
In a child with a shunt, headache, vomiting, drowsiness, irritability or a seizure may signal a blocked shunt and needs emergency neurosurgical assessment nearby. Noisy breathing or swallowing difficulty in a baby, fever with urinary symptoms, or a pressure sore with spreading redness also need prompt care.
Travelling to Türkiye for treatment
Daily care, including catheterisation, therapy, monitoring of the shunt and kidney surveillance, must be provided locally by a team that knows your child. Travel can be justified for specific planned steps: a second opinion after a prenatal diagnosis, assessment at one of the few fetal surgery centres, where timing before about 26 weeks is strict and the mother has to remain nearby until delivery, complex urological or orthopaedic reconstruction, or untethering surgery. Ask for a written plan that your home team can continue.
Send your reports, scans and a short history and a Clinic-Y coordinator replies within 24 hours with suitable teams and written, all-inclusive proposals side by side. Reviewing your case is free.
Frequently Asked Questions
Can spina bifida be cured?
No. Surgery closes the defect and treats complications. The aim of lifelong care is to maximise function and protect the kidneys.
Will my child walk?
That depends on the level of the lesion. Children with low lumbar and sacral lesions usually walk, often with braces. Those with higher lesions generally use a wheelchair.
Is spina bifida occulta something to worry about?
Usually not. It is a common finding on X-rays. It is investigated only when there are skin markers or symptoms in the legs or bladder.
How can I lower the risk in a future pregnancy?
Take high-dose folic acid, 4 to 5 mg daily, from at least 1 to 3 months before conception, as prescribed by your doctor, and review your medicines.