Spina bifida

Lydia Garside · Published 29 June 2015 · Updated 31 January 2026

Clinical

A couple comes to see you following their 18-week ultrasound. They have been told that the ultrasound showed their baby has spina bifida. The family wish to discuss the situation with a paediatrician.

How common is spina bifida?

The incidence is <1 in 200.

The number of cases of spina bifida is declining. This is often due to earlier ultrasound diagnosis and the increasing use of folic acid supplements by women of childbearing age.

80% are now diagnosed antenatally, and many are terminated in the antenatal period. Blood screening for raised alpha-fetoprotein is helpful if positive.

What is spina bifida?

Spina bifida is a congenital lesion of the spinal cord which results in some parts of the spinal cord and meninges being exposed.

Spinal lesions are classified into:

..and where is the lesion?

Most spinal defects occur in the lower lumbar and sacral regions, but they can occur at any level. Most are located posteriorly.

Spina-bifida

More than 97% of cases of spina bifida are associated with Chiari II malformation in the brain. This causes displacement of the cerebellum, fourth ventricle and medulla through the cisterna manga, resulting in a banana-shaped cerebellum. There is also concavity of the frontal bones, resulting in a lemon-shaped skull and ventriculomegaly.

More severe lesions can be seen as early as 11-12 weeks, but most are diagnosed during the routine fetal anatomy scan at 18-20 weeks.

How can we predict functional outcomes?

Ascertainment of the level of the spinal lesion is the most important predictor of functional outcome. MRI may be used to aid in this, but a thorough high-resolution US examination is more effective at determining the level of the lesion.

There may be associated deformities of the lower limbs, such as clubfoot and hip dislocation. Most neural tube defects are isolated malformations, but up to 15% are associated with other abnormalities (VSD, renal, IUGR), and 3% are associated with chromosomal abnormalities.

A lipomyelomeningocele is the mildest form of spina bifida – usually, there is no Chiari malformation. Mobility issues are harder to predict in these cases, though, and they may be progressive. Patients often have incontinence/bowel issues.

The main questions to ask when considering the likely functional outcome are…

Antenatal counselling for spina bifida

Antenatal ultrasound can pick up:

spinabifidaante

Obstetricians refer to a spina bifida service when a neural tube defect is diagnosed antenatally. This is usually an urgent referral. The purpose is to discuss the nature and effect of the neural tube defect on the baby.

What do the parents want to know about spina bifida?

It’s important to be aware that the family may have a different agenda from you for this meeting.

They want to know:

We want them to know:

Make sure you don’t get too carried away with your own agenda!

The general principles to go through in the meeting should be:

What’s the best approach?

The parents will have lots of other thoughts going through their minds, too, like:

And they will be having thoughts about the future…

It’s also worth mentioning to parents that there are continuous improvements in care.

Decision-making about the pregnancy

This is the parents’ decision. It’s about what is best for their baby – there is no right or wrong. Offer support now and in the future, whatever the decision.

Give written handouts if parents want them. And offer to meet again if they are continuing with the pregnancy. Provide telephone contact.

The right decision needs to be what is right for the individual couple at this point in time, given their circumstances and the limited information/forecasting we can provide for the future.

Medical problems in spina bifida

Neurological

In addition to central nervous system problems, spina bifida also affects the peripheral nervous system.

Patients may have lower motor neuron dysfunction, which presents with flaccid muscle paralysis. This is a fixed deficit, i.e. there is no improvement in nerve function or deterioration (unless there are complications). About 10% have some spasticity in their lower limbs. Sensory deficits limit feedback about muscle function and limb position, and hinder learning to walk.

Orthopaedic

Urological

Patients have inefficient bladder emptying, leading to:

Management of urological problems includes:

Gastrointestinal

Skin

Sensory loss – reduced pain, position sense resulting in:

Back

Back pain is common – there are multiple causes

Respiratory

Endocrine

Other problems include:

Bladder and bowel management

25% of patients with spina bifida will have renal damage. In the first few years of life, this can be progressive and therefore, patients should have 6-monthly renal ultrasounds. They should also have annual urology reviews (including BP, urinalysis, and UECs).

Patients should only have symptomatic UTIs treated. A DMSA should be performed if there are concerns about actual scarring.

When are urodynamics tests appropriate?

These should be carried out where there is:

The key to a healthy urinary system is regular, complete bladder emptying.

Patients usually require medication such as oxybutynin to relax the detrusor muscle and facilitate the storage of urine between catheterisations. Continence pads of varying sizes and absorbencies will be required. Adolescent males sometimes use a penile appliance.

Teaching clean self-intermittent catheterisation depends on cognitive ability and the level of disability. With clean intermittent catheterisation, use the largest catheter possible at least 4-6 times daily.

What are the principles of bowel management?

Spina bifida is a lifelong condition. The ‘toilet timing’ program should commence at around two years of age. Children should have a regular, consistent toileting routine.

To avoid constipation, they need a suitable diet, adequate fluids, and regular exercise.

Regular evacuation – usually daily after breakfast or after dinner at night. May need assistance by using a suppository or enema.

What are the best bowel treatments?

Stimulant laxatives should be avoided for long-term bowel problems. The usual preference is lubricants or stool softeners (or bulking agents) if diet alone is inadequate. Macrogel osmotic laxatives are ideal for preventing and treating constipation.

Young people must be taught to know their own bodies, be observant, and anticipate higher-risk times for accidents.

Non-surgical management includes suppositories, small disposable enemas, retrograde bowel washouts, and anal plugs.

When conservative methods fail, a normal saline retrograde bowel washout using a Willis home bowel washout kit, Peristeen anal irrigation, or Cardiomed system may help.

Surgical management includes MACE – Malone Antegrade Continence Enemas (percutaneous caecostomy using a gastrostomy button, Chait button, or appendix).

Rarely is a colostomy required.

Questions about fertility in spina bifida

Folate is essential for rapidly dividing cells, and problems with folate metabolism can lead to miscarriage. Spina bifida risk is not increased for women who have families in later life.

What issues do people with spina bifida face before pregnancy?

Precocious puberty is an issue in some patients with hydrocephalus. Intrauterine factors control the timing of puberty, and early shunting does not influence the outcome.

Early puberty in the context of disability and immaturity can be a burden. Treatment with GRH agonists can put puberty “on hold,” but it is expensive.

What fertility issues do girls with spina bifida face?

Girls with spina bifida are usually fertile. Because of early puberty, they may be more fertile early than most and could be subject to exploitation – their maturity and executive functioning deficits contribute. Regular contraceptive precautions should be advised.

Women with spina bifida must understand the risk of neural tube defects in babies. They should use folate supplementation prior to conception. Antenatal ultrasound can be an aid in early detection.

Couples should consider what they would do as parents if their baby is found to have a neural tube defect.

And what issues do boys with spina bifida face?

Because the spinal cord coordinates erection and ejaculation, sexual function is often reduced in males with spina bifida. Recurrent UTIs can reduce fertility, as can retrograde ejaculation.

However, some patients will be fertile even if they are incontinent.

Prognosis in spina bifida

How can we help with learning?

For preschool children:

They should be encouraged to develop age-appropriate skills – facilitate rather than ‘do’. Encourage thinking by extending sentences, e.g. ‘What happened next?‘ Enable simple choices. Preschool is excellent preparation for school – and should be strongly recommended.

For school-aged children:

Structured day, regular routines. Didactic teaching, lots of repetition, and revision. Concrete reinforcement. Prepare for the day. Anticipate change. May need to assist with socialisation

In the classroom

Structured learning: Reduce stimulus/business of the classroom. Reduce distractions. Simplify the tasks into steps. Make sure the child understands the task. May need help to begin and organise the task. Memory – need to store information in an organised fashion.

Survival of patients with spina bifida

One-third die before five years of age

One quarter dies before 40 years of age from:

If there is a thoracic-level spinal lesion, only 17% survive to age 40 years.

47% die due to potentially reversible causes:

Children with spina bifida have complex needs and will need to see several different specialists regularly throughout their lives. Medical surveillance is key. Education is also imperative, initially for parents and then later as the child grows so they can self-manage as adults. Given the complex care, children are best served in specialist rehabilitation spina bifida clinics with immediate access to allied health and different medical and surgical specialities as required.

Spina bifida is a lifelong condition, and how we treat children with spina bifida will have a huge impact on their adult health.

Read more