Introduction

Spina bifida is one of the most commonly occurring neural tube birth defects. At roughly 4 weeks after conception, this neural tube will normally be fully developed and closed, which will then develop into a spinal cord and brain.¹ The term spina bifida translates into “split spine”, indicating how patients have a gap in their spine due to defective development of their neural tube in the womb. These gaps typically occur in the small of the back of the patient, but can also be found anywhere along the spine.² 

The most effective way to treat and repair severe cases of spina bifida is via surgery.² This article will detail the different types of spina bifida, how this condition is diagnosed, and the surgery and subsequent treatment options available for patients.  

Types of spina bifida

The three most common types of spina bifida include the following:

• Myelomeningocele - The most severe type of spina bifida which occurs in 6 babies out of every 10,000 born in the UK. Babies born with myelomeningocele have a portion of which protrudes through their back in a sac-like formation. This sac also contains nerves, cerebrospinal fluid, and blood vessels. This protrusion is typically not covered by skin. Symptoms include weakness or paralysis below the spinal protrusion, as well as bladder and bowel problems.³ It’s common for babies to also have a defect at the base of their skull (Chiari malformation), which results in the patient suffering from hydrocephalus.³ This condition is characterised by excess buildup of cerebrospinal fluid in the brain, leading to brain damage, seizures, and blindness if left untreated.
• Meningocele - Babies born with meningocele also have sac-like formations but are covered by skin and, hence, not exposed. Instead of containing spinal cord and nerves, these sacs are only composed of meninges. Their spinal cord typically develops normally and they have little-to-no nerve damage. Due to this, meningocele patients typically experience minor disabilities, such as pains and weaknesses below their protrusion.⁴
• Occulta - The most common and mildest type of spina bifida - it’s estimated that between 5-10% of the UK population has spina bifida occulta. Also known as closed spina bifida, babies born with this have a small malformation in a portion of their vertebrae, leading to a very small gap in their backbone. Sometimes, the skin above this spot can turn slightly purple or red, or some hair can grow. It is very common for spina bifida occulta to not be diagnosed until the patient is a older, and typically patients do not experience any symptoms.⁵

Diagnosis of spina bifida

The more severe types of spina bifida can be diagnosed during the pregnancy or just after the baby is born. With spina bifida occulta, it is rare for this type to be diagnosed at such early stages. Instead, this form of the neural tube defect is typically diagnosed during someone’s late childhood or adulthood (if diagnosed at all).² 

Prenatal diagnosis

Spina bifida can be diagnosed during pregnancy, often during the mid-pregnancy scan, which is offered between the 18th and 21st week of pregnancy. This ultrasound scan allows doctors to look at the baby’s developing organs, including the spine. 

If abnormalities are found in the spine of the baby, and spina bifida is suspected from this scan, further tests can be done to confirm the diagnosis. These include:

• A blood test to check alpha-fetoprotein (AFP) levels - AFP is a protein that only foetuses produce. By collecting a blood sample from the pregnant individual, doctors can measure how much AFP has been passed from the foetus to the parent. If a high level (roughly 2-5 times higher than expected) of AFP is found, this could mean that the baby has spina bifida as, if there are gaps in the spine, it could result in the loss of high amounts of AFP.⁶ 
• Amniocentesis - This test consists of removing fluid from the uterus and testing this fluid for AFP levels. As with the blood test, if AFP levels are much higher than average, then this could be an indication of spina bifida.⁷ 

Postnatal diagnosis

Spina bifida can also be diagnosed after birth, and postnatal tests can be carried out in order to determine how severe the condition is. Postnatal tests to confirm spina bifida diagnosis include:

• Physical assessment of the baby’s back to check any protrusions, as well as the movements of the baby, to assess potential paralysis or weakness of the limbs.
• Ultrasounds, CT scans, and MRI scans can be done to check the baby’s spine, brain, bladder, and bowels. This will determine the severity of the spina bifida. For instance, if the scans show excess fluid in the baby’s brain, this is an indication of hydrocephalus and that the baby has myelomeningocele.  

Surgical options for spina bifida

Once babies with spina bifida are born, the first line of treatment is typically a surgical procedure within 48 hours after their birth. This is essential for myelomeningocele patients as if left untreated for any longer, the nerves and spinal cord within their protrusion can come into contact with harmful foreign substances and lead to infection and illness.³ 

Surgical closure of the spinal defect

The first and most important surgery option, which is done in all patients with symptomatic spina bifida, is the removal of the protrusion and the closing of the spine. 

For babies born with myelomeningocele, the surgery consists of moving the exposed spinal cord and surrounding nerves and blood vessels back into the correct place they should be. The gap where the protrusion was is then sealed over with the patient’s muscle and skin layers. This surgery will repair the spinal defect but any nerve damage already caused by the nerves being out of place cannot be undone. Further treatments are needed to help the patient cope with this life-long nerve damage.³ 

For babies born with meningocele, the surgery consists of removing the sac-like structure. This removal is done without damaging any spinal cord or nerves.⁴ 

Shunt placement for hydrocephalus 

For myelomeningocele babies who also suffer from hydrocephalus, a thin tube called a shunt is surgically implanted into the patient’s brain to drain excess fluid to another body part - typically the abdomen. 

Hydrocephalus patients have to keep this shunt in for the rest of their lives; hence, it is common for these patients to have to undergo multiple surgeries as they get older to replace the shunt to accommodate their growing size. Further surgery is also needed in the case of the shunt becoming blocked, needing repositioning, or becoming infected (symptoms including redness and tenderness, a high temperature, headache, vomiting, neck stiffness, and pain in the abdomen). 

Foetal surgery

Although the typical treatment option is surgery after birth, a newer, upcoming type of surgery can also be used to treat spina bifida. Open foetal surgery can be used when a foetus is diagnosed with severe spina bifida during pregnancy. 

This procedure would consist of performing surgery whilst the parent is still pregnant and making a small opening in their uterus to be able to perform surgery on the foetus inside. Like with postnatal surgery, the goal of this surgery would be to close the spinal defect. The aim of this therapy is that, by fixing the defect prior to birth, it will allow the baby’s spine to form properly, giving the baby a better quality of life from birth.⁸ 

There are, however, very serious risks to foetal surgery, which must be taken into consideration before deciding to operate. Examples include the rupturing of the uterus during and/or after surgery, leading to foetal death, early labour, and maternal death.⁸

Surgery options to treat additional spina bifida symptoms

It is common for patients with severe spina bifida to undergo multiple surgeries in their lives, in order to try to treat other associated complications which can occur after the initial surgical closure. 

It can be quite common for patients to have problems with bladder control, as the nerves responsible can be damaged. Such patients are also prone to developing urinary tract infections. Besides self-catheterisation and taking medicine to try to relax the bladder, surgery is also an option. 

Examples include:

• Surgically enlarging the bladder to be able to hold more urine.
• Surgically attaching the bladder to the appendix, and then creating a hole in the appendix where a catheter can be placed to be able to drain urine from the bladder. 

It can also be quite common for people with spina bifida to have bowel problems (such as constipation or diarrhoea). Besides taking medicines such as laxatives and suppositories to relieve symptoms, surgery can be undertaken. 

Examples include:

• Antegrade continence enema (ACE) - This surgical procedure consists of using a part of the patient’s small intestine to create a passage between the bowel and a small opening on the abdomen. Liquid can then be poured into this passage through the abdomen opening in order to flush any faeces out of the bowel and the body.
• Colostomy - This surgical procedure consists of diverting the end of the large bowel through a small opening in the abdomen. Over this opening, a pouch is then placed to collect any faeces.

Sometimes spina bifida patients can experience problems in the development of their bones, such as a dislocated hip and club foot. To correct these deformities, orthopaedic surgery can be conducted.  

Postoperative care and rehabilitation strategies

After having a surgical intervention, it is important for spina bifida patients to also go through proper postoperative care and rehabilitation to fully improve their quality of life. Such therapies are particularly important for patients with nerve damage that cannot be reversed in surgery. 

Important rehabilitation therapies that are often recommended to spina bifida patients post-surgery include:

• Physiotherapy - This strategy aims to help patients with their limb movement after surgery. This includes daily exercises to maintain strength.
• Occupational therapy - This strategy aims to help people carry out their everyday tasks, such as getting dressed or walking down the stairs. Equipment is provided, such as handrails and walking aids, to help improve the patient’s mobility post-surgery.
• Educational support - For those patients who suffer from hydrocephalus, they may experience some learning difficulties both before and after surgery. Hence, educational support (such as a special educational needs coordinator) is assigned to these patients.

What is the prognosis for spina bifida patients after surgery? 

With all of the options available for spina bifida, most patients manage to live long and independent lives. Depending on the severity of the spina bifida, and whether or not the patient suffered from hydrocephalus, it is likely that the patient will need treatment and support throughout their lives. However, this does not stop the patient from being able to live a fulfilling life.⁹ 

Summary

Spina bifida is a neural tube birth defect in which the spinal cord doesn't develop properly, leaving a gap in the spine. The most severe types of spina bifida can lead to symptoms of paralysis, bladder and bowel problems, and cognitive impairments. Surgery is often necessary for the more severe types of spina bifida, typically performed within 48 hours of birth. The main goal is to close the gap in the spine to protect any exposed spinal cord and nerves. After surgery, rehabilitative care, such as physiotherapy, assistive devices, and educational support, is often required to manage complications and support the child's development. With such surgery options and postsurgical care, patients can lead long and fulfilling lives.