Spina Bifida: What It Is, Causes, Symptoms, Diagnosis, Treatment and Prevention

What is Spina Bifida?

Spina bifida is a congenital condition in which the neural tube does not form or close completely during early fetal development. The neural tube later develops into the brain, spinal cord and tissues surrounding them. Incomplete closure may leave a gap in the vertebrae and, in more severe cases, expose or damage the spinal cord and nerves.

The effects of spina bifida depend mainly on the type of defect, its level on the spine, whether it is open or covered by skin and the extent of nerve involvement.

Types of Spina Bifida

The types of spina bifida and their characteristics are listed in the table below:

How Common is Spina Bifida in India?

India does not have a reliable, recent national estimate specifically for spina bifida. Most Indian research reports combine the prevalence of all neural tube defects, including spina bifida, anencephaly and encephalocele.

A meta-analysis in 2023 estimated an approximate rate of neural tube defects of around 9.46 per 1,000 births. The analysis reported substantial differences between regions and relied heavily on hospital-based studies. However, the prevalence is not of spina bifida alone, but also of other congenital tube defects. The numbers can be higher due to a lack of awareness, and reported cases may be lower due to limited access to healthcare facilities in the country.

What are the Symptoms of Spina Bifida?

Symptoms depend on the type, level and extent of the spinal defect. Spina bifida does not progress from early to advanced stages, but from early to severe or complication-related symptoms.

Some of the early warning signs and severe or complicated symptoms are listed below:

Diseases Similar to Spina Bifida

Spina Bifida can share symptoms with other neurological conditions that affect movement, sensation, muscle control or physical development. However, these conditions differ substantially in their underlying causes and typical locations of involvement. The table below gives a comparative overview of these conditions and their clinical features for better understanding:

Spina Bifida Vs. Tethered Spinal Cord Syndrome Vs. Cerebral Palsy

Causes and Risk Factors of Spina Bifida

The exact cause of spina bifida is usually not known. It probably develops through a combination of genetic, nutritional, maternal and environmental factors. It cannot be reversed by recognising symptoms early because the spinal defect develops during early pregnancy.

Factors associated with a higher risk include:

• Insufficient Folic Acid: Not consuming enough folic acid before conception and during early pregnancy increases the risk of neural tube defects.

• Previous Neural Tube Defect: A previous pregnancy affected by a neural tube defect increases the chance of recurrence.

• Family and Genetic Factors: A personal or family history may increase susceptibility, although most cases are not caused by a single inherited gene.

• Poorly Controlled Diabetes: Diabetes present before pregnancy may increase the risk when blood glucose is not adequately controlled.

• Pre-Pregnancy Obesity: Obesity before pregnancy is associated with a higher risk of neural tube defects.

• Certain Medicines: Some medicines, particularly selected antiseizure medicines, may increase the risk and require preconception review.

• High Fever or Overheating: Significant fever or prolonged overheating during early pregnancy has been associated with increased risk.

Note: Pregnant women should not stop prescribed medicines without medical advice.

Complications of Spina Bifida

Undetected spina bifida can lead to the following complications:

• Hydrocephalus: Excess cerebrospinal fluid may enlarge the brain ventricles and require close monitoring or shunt surgery.

• Chiari II Malformation: Part of the lower brain may extend into the spinal canal and contribute to swallowing, breathing or neurological problems.

• Tethered Spinal Cord: The spinal cord may become attached and stretched as the child grows, causing worsening pain, weakness or bladder and bowel symptoms.

• Neurogenic Bladder: Nerve dysfunction may cause retention, incontinence, recurrent urinary infections or kidney damage.

• Neurogenic Bowel: Constipation, faecal incontinence and difficulty emptying the bowel may occur.

• Mobility and Orthopaedic Problems: Weakness, scoliosis, hip abnormalities, contractures and foot deformities may affect movement.

• Skin Injuries: Reduced sensation increases the risk of unnoticed burns, cuts and pressure injuries.

• Learning Difficulties: Hydrocephalus and associated brain changes may affect attention, organisation, coordination or learning in some children.

• Shunt Complications: A shunt may become blocked, disconnected or infected and require urgent treatment.

When Should You See a Healthcare Provider?

Seek specialist assessment when:

• Prenatal screening or ultrasound suggests a neural tube defect.

• A newborn has an open lesion or fluid-filled sac on the back.

• A baby has a deep dimple, hair tuft, fatty lump or unusual mark over the lower spine.

• Leg weakness, loss of sensation or walking difficulty develops.

• Bladder or bowel control changes.

• Recurrent urinary infections occur.

• Head size increases rapidly.

• Back or leg pain, scoliosis or weakness worsens.

• A person with a shunt develops severe headache, vomiting, sleepiness, irritability, fever or neurological changes.

An exposed myelomeningocele in a newborn requires urgent specialist care to protect the lesion and reduce the risk of infection or further injury.

How is Spina Bifida Diagnosed?

Spina bifida may be identified during pregnancy, at birth or later in life. Spina bifida occulta may remain undetected unless symptoms or imaging reveal it. Spina bifida may be diagnosed by the doctors using the methods given below:

How is Spina Bifida Managed or Treated?

Treatment of spina bifida depends on the type of defect and the associated neurological, urological and orthopaedic problems. Surgery can close an open lesion and prevent further exposure, but it cannot restore spinal nerves that were already damaged. Some ways to manage or treat spina bifida are as follows:

Common Medicines Used to Treat Spina Bifida

Medicines do not close the spinal defect or repair damaged spinal nerves. They are prescribed for associated bladder, bowel, muscle or infection-related problems. Common medications may include:

• Oxybutynin: May reduce involuntary bladder contractions and improve bladder storage in selected patients with neurogenic bladder.

• Solifenacin: May be considered as an alternative antimuscarinic medicine under specialist supervision.

• Mirabegron: May be used in selected patients when bladder overactivity remains inadequately controlled. Paediatric use requires specialist assessment.

• Polyethylene Glycol: May help manage constipation as part of an individualised bowel programme.

• Sennosides or Bisacodyl: Stimulant laxatives may be included when dietary measures and osmotic laxatives are insufficient.

• Baclofen: May reduce muscle stiffness or spasms in selected patients. Spasticity should be assessed because it may also indicate another neurological problem.

• Botulinum Toxin Type A: Injections may be considered for treatment-resistant neurogenic bladder or excessive muscle activity.

• Trimethoprim-Sulfamethoxazole: May be used for selected urinary or other bacterial infections when appropriate and based on susceptibility.

Note: The medicine regimen is individualised by the treating urologist, neurologist, rehabilitation specialist or paediatrician. Medicines should not be taken without consulting the treating doctor.

Living With Spina Bifida: Daily Challenges and Caregiving

Spina bifida is usually a lifelong condition. The level of support depends on mobility, bladder and bowel function, hydrocephalus and the person’s ability to manage daily activities. Some of the crucial challenges and care points include:

What is the Prognosis of Spina Bifida?

The prognosis of spina bifida depends on the type and level of the lesion, the extent of nerve damage and associated conditions such as hydrocephalus, kidney dysfunction or tethered spinal cord.

People with spina bifida occulta often have no symptoms or only limited problems. Myelomeningocele may cause lifelong mobility, bladder and bowel difficulties, particularly when the lesion is higher on the spine. Early closure protects an open lesion but does not reverse existing nerve damage.

With appropriate neurosurgical, urological, orthopaedic and rehabilitation care, many people with spina bifida survive into adulthood, pursue education and employment and achieve meaningful independence. Ongoing kidney protection, skin care, shunt monitoring and transition to adult services are important for long-term outcomes.

How Can Spina Bifida Be Prevented?

Not every case of spina bifida can be prevented. However, some tips can substantially lower the risk of neural tube defects. These include:

• Take folic acid daily from the time pregnancy is being planned until 12 weeks of pregnancy.

• Attend preconception and antenatal appointments.

• Control diabetes before conception and during pregnancy.

• Work towards a healthy pre-pregnancy weight.

• Review prescription medicines before conception, particularly antiseizure medicines.

• Avoid smoking, alcohol and recreational drugs.

• Seek medical advice for a high fever and avoid prolonged overheating during early pregnancy.

• Follow a balanced diet containing natural sources of folate.

Spina Bifida Treatment Cost in India

Spina bifida treatment costs depend on the type of defect and associated complications. For patients requiring regular follow-up, physiotherapy, medicines and monitoring, the approximate monthly treatment cost may be lower. On the other hand, complex cases requiring intensive rehabilitation, repeated investigations or additional specialist care may incur higher monthly expenses.

An overview of spina bifida treatment expenses is given below:

Note: The above-mentioned costs are estimates. Actual expenses can vary based on the hospital, city, surgeon, procedure complexity, room category, investigations, length of hospitalisation and rehabilitation needs. Families should obtain an itemised estimate from the treating hospital before treatment begins.

Does Health Insurance Cover Spina Bifida?

Yes. Health insurance may cover certain expenses related to spina bifida, depending on the policy’s terms. Medically necessary hospitalisation, myelomeningocele repair, shunt surgery and treatment of covered complications may be covered if the condition has been disclosed and accepted by the insurer before policy purchase.

Since spina bifida is present from birth, the insurer may consider it a pre-existing condition. As a result, a PED waiting period of 12 to 36 months may apply, depending on policy terms.

How Much Health Insurance Coverage is Needed for Spina Bifida?

The amount of health insurance required for spina bifida treatment depends on the type of defect, expected surgeries, associated complications, preferred hospitals and the policy’s treatment of congenital and pre-existing conditions.

In general, congenital conditions often require ₹10 to ₹25 lakh coverage to be on the safer side. However, for more complicated cases, the coverage amount should be higher, at about ₹50 lakh to cover additional expenses. It is recommended to compare various health plans in terms of coverage and premiums before buying one.