Approach

A multidisciplinary approach to medical and surgical care, as well as coordination of services, is most beneficial. Comprehensive obstetric care is required during the antenatal period. Involvement of and close follow-up by neurosurgical, urological, and orthopaedic specialists is essential in infancy.

Antenatal

Most fetuses affected by spina bifida can be carried to term. However, antenatal care is best provided by an obstetric group that can offer serial fetal ultrasonography to monitor hydrocephalus, as early delivery may be indicated if hydrocephalus is severe.

Options regarding termination of the pregnancy, fetal surgery, and delivery should be discussed between the parents/carers and the obstetrician.[61]

Rates of elective termination vary across cultural sub-groups, with higher rates noted in Europe (52%) than in the US (30% to 48%).[15][93][95]

Fetal surgery

The option for fetal surgery should be discussed.[61][96]​​ This surgery is performed between the 19th and 25th week of pregnancy and should be performed by an experienced maternal-fetal surgical team only after careful consideration.[82]​​[96][97]​​​​​ In 2011, the Management of Myelomeningocele Study (MOMS), a randomised prospective efficacy and safety trial of antenatal repair versus postnatal repair of myelomeningocele, documented lower rates of shunt placement (40% versus 82%) and hindbrain herniation (64% versus 96%) at 12 months, and better ambulation at 30 months, among infants who had undergone antenatal closures.[82]​ However, 13% of babies who underwent antenatal surgery were born prior to 30 weeks' gestation. Infants in the antenatal surgery group also underwent more procedures for delayed spinal cord tethering. Furthermore, more than one third of the women had evidence of uterine thinning or an area of dehiscence at delivery. There were no maternal deaths. The perinatal death rate was similar (2%) for both surgery groups. One follow-up study found that antenatal surgery on fetuses with ventricles larger than 15 mm did not improve outcomes for postnatal hydrocephalus requiring shunt placement.[94] Little is known about the effect of antenatal surgery on bowel and bladder function. A 30-month follow-up study documented that antenatal surgery did not significantly reduce the need for clean intermittent catheterisation, but was associated with less bladder trabeculation and open bladder neck.[98]

The MOMS trial was performed at 3 renowned fetal surgery centres by highly skilled and experienced surgeons. Women with a body mass index of 35 or more were excluded from participation, and only infants with sacral and lumbar myelomeningoceles were enrolled. Because fetal surgery centres are not standardised, and because obesity is common among women carrying a fetus with myelomeningocele, the results of this landmark study cannot yet be generalised to a standard-of-care recommendation. At present, there is insufficient evidence to recommend drawing firm conclusions on the benefits or harms of antenatal repair as an intervention for fetuses with spina bifida. Current evidence is limited by the small number of pregnancies included in the single randomised trial that has been conducted.[96][99]​​ Therefore maternal-fetal surgery for myelomeningocele repair should be offered only to carefully selected patients at centres with high levels of expertise and resources.[96]

Caesarean delivery

The option for caesarean delivery should be reviewed. Although commonly performed, families should be made aware that there have been no definitive studies to show that this improves outcome for a baby with severe fetal malformations.[100] However, if antenatal myelomeningocele surgical repair has been carried out, pre-labour caesarean delivery, at or before 37 weeks, is recommended because of the risk of rupture of the hysterotomy scar during labour.[61]

Discuss diagnosis and prognosis with parents/carers

Studies have shown that obstetricians may give incomplete or inaccurate information regarding diagnosis and prognosis.[101] Therefore, consultation with a genetic counsellor, the medical director of the regional spina bifida centre (or a specialist paediatrician in spina bifida), and a paediatric neurosurgeon is also recommended prior to delivery in order to discuss the diagnosis, prognosis, and care plan at time of delivery.

  • The genetic counsellor discusses availability of amniocentesis and risk of trisomy 13, trisomy 18, and other rare genetic disorders such as 22q deletion syndrome.

  • The medical director of the spina bifida centre (or a specialist paediatrician in spina bifida) provides the parents with a realistic understanding of the array of services and supports available to the family when the baby is born. In addition, the medical director can give an overview of initial treatment in the neonatal intensive care unit.

  • The neurosurgeon discusses the cele repair and the management approach for hydrocephalus.

Neonate or infant

Neurosurgical management

  • Neurosurgical repair of the defect is considered the mainstay of treatment for open spina bifida. Closed spina bifida does not usually warrant any immediate surgery. Neonates born at outlying hospitals should be transferred for neurosurgical care shortly after birth, with saline gauze wrapped over the cele (refers to either meningocele or myelomeningocele) and intravenous antibiotic coverage initiated, similar to neonatal meningitis, in order to prevent infection. The cele closure is typically performed within 1 to 3 days of delivery.​[82]

  • Neonates born with severe hydrocephalus have a ventriculoperitoneal shunt placed concurrently. Those who have mild to moderate ventriculomegaly are monitored closely for signs of hydrocephalus such as rapid head growth, bulging fontanelle, sundowning of eyes, poor feeding, vomiting, irritability or lethargy, apnoea, and leakage of cerebrospinal fluid at the cele repair site. A sub-galeal shunt can be placed as a temporary measure in premature infants, and may obviate the need for permanent shunting in some patients. Serial head ultrasound studies are useful for monitoring cortical mantle thickness. If the hydrocephalus is stable and the infant is asymptomatic, it is safe to monitor with serial head ultrasound studies for up to 5 months as long as the cortical mantle thickness is at least 3.5 cm. Hydrocephalus is unlikely to progress after 9 months of age. In the past, most infants born with myelomeningoceles (80% to 90%) ultimately had shunt placement. In recent years, neurosurgeons have been more cautious about committing patients to a lifetime of shunt dependence. Shunt placement rates are now as low as 60% in some centres. Third ventriculostomy is a treatment option in developing countries where access to follow-up care may be problematic.[102]​​[103] This involves creating an opening in the base of the third ventricle, which becomes the alternative to the blocked outflow from the fourth ventricle, and does not require placement of a shunt. Because of potential complications such as bleeding, this is considered less favourable than shunt placement, although a recent review showed similar quality-adjusted life year (QALY) at 1 year of follow-up.[104] Complication rates for endoscopic third ventriculostomy are in the order of 5% to 6% in the short term, and long-term complications may be less.[105]​ While there are fewer acute complications with shunt surgery, the incidence of shunt revision and shunt infection are 43% and 8%, respectively, within 2 years after shunt placement.[106]

  • If raised intracranial pressure is ruled out, or treated, but symptoms persist, Chiari decompression surgery is usually performed. Infants with brainstem symptoms present at birth are more likely to have brainstem malformation rather than compression.

  • The notions that posterior fossa decompression surgery with duraplasty has a lower rate of re-operation and that decompression surgery that leaves the dura intact has a lower rate of cerebrospinal fluid-related complications have yet to be substantiated by clinical trials.[107]

  • Tracheostomy, Nissen fundoplication, and gastrostomy tube placement is often needed for these infants due to severe oromotor dysfunction and airway compromise.

Bladder management

  • The initial investigation of a newborn with spina bifida requires a prompt urological evaluation consisting of voiding history, physical examination, urine culture, serum urea/creatinine, and renal ultrasound.

  • A renal ultrasound should be obtained 48 hours after birth. If hydronephrosis is present, prophylactic antibiotics should be instituted and voiding cystourethrography arranged.

  • In the first 2 months of life, bacteriuria, even if asymptomatic, should be treated. This is because urinary tract infection can be difficult to diagnose in neonates, it can rapidly progress to sepsis, and there is a greater risk of cortical scarring in the neonatal period compared with older age groups.

  • Clean intermittent catheterisation is often initiated before back closure and continued into the postoperative period to ensure maintenance of a low-pressure reservoir. The frequency of catheterisations is then adjusted on the basis of the voiding pattern and the residual urine.

  • A urodynamic assessment is performed after back closure. It is an important screening tool to identify children with risk factors for future upper tract deterioration. The presence of disorders of sex development, elevated storage pressures (i.e., >40 cm of water), and detrusor overactivity needs to be treated aggressively to prevent renal functional loss. Findings on urodynamic studies associated with a high-risk bladder (i.e., leak-point pressure >40 cm of water, the presence of detrusor sphincter dyssynergia, and small bladder capacity due to detrusor hyperreflexia) are very strong indications to start and/or continue intermittent catheterisation.

  • For those infants with detrusor sphincter dyssynergia on urodynamic study, oxybutynin may be started for its anticholinergic effect in order to relax the bladder wall, reduce pressure, and protect the upper urinary tract.[108] There is controversy about the neurocognitive impact of oxybutynin on the developing brain. However, clean intermittent catheterisation and anticholinergic therapy in patients with detrusor sphincter dyssynergia has dramatically reduced the need for augmentation cystoplasty later in life.[109] A vesicostomy may be considered if the bladder is deemed high risk and there is non-adherence to intermittent catheterisation.[110][111]

  • Video-urodynamics is often incorporated into the initial urodynamic study to provide the same information as voiding cystourethrogram.

  • Long term, as the patient progresses through infancy into childhood and adolescence, ongoing urological surveillance is critical for developing urinary continence strategies, preventing upper tract deterioration, and screening for secondary tethered cord.

  • Variations in the definition of urinary tract infection may contribute to over-treatment in patients on intermittent catheterisation who are merely colonised. Algorithms for the diagnosis and management of neurogenic bladder in patients with spina bifida have been developed and are currently being evaluated by the US Centers for Disease Control and Prevention Spina Bifida National Registry.[112]

Orthopaedic management

  • Club foot is a common deformity with lumbar or higher-level lesions due to imbalance of muscles around the foot and ankle. Treatments include stretching, casting, surgery, or a combination of these until the foot and ankle can be brought to a weight-bearing position.[113] The goal is to have a braceable foot that can weight-bear in an ankle-foot orthosis (AFO) or shoe. AFOs may be fitted to help maintain position of the foot during growth once club foot deformity has been corrected.

  • Treatment of vertical talus can include physiotherapy to maintain range of motion (ROM) or surgery, depending on the severity of the deformity and functional implications for the child. Serial casting and soft-tissue surgeries are preferred over bony procedures. The goal of treatment is a supple, plantigrade foot. AFOs are usually prescribed when the infant begins to weight-bear.

  • Treatment for subluxed or dislocated hips depends on the child's sensory and functional level. Treatment may involve stretching to maintain ROM. Abduction splints (e.g., Pavlik harness) and surgery are usually reserved for low sacral lesion ambulatory patients or if the conditions interfere with sitting, ROM, nappy changing, or perineal care.[114][115] Children that have sensation at the level of the hip may benefit from surgical intervention to prevent painful arthritis in the future.

  • Hip and knee flexion contractures are usually treated with physiotherapy, involving passive ROM exercises. Surgery is rarely indicated in the newborn period or infancy. In later years, an anterior release is considered for hip flexion contracture >30 degrees and a posterior release is considered for knee flexion contracture >20 degrees.

Supportive care

  • The cele repair site should be protected from faecal soiling with a mud flap barrier dressing until fully healed. In addition, gauze may be placed between the gluteal folds to help protect the repair site from contact with stool.

  • Constant oozing of stool (due to neurogenic bowel) can cause contact nappy dermatitis. This is best managed with barrier cream that contains zinc oxide and by leaving the nappy area open to air whenever possible. Parents should be cautioned not to rub the skin, but rather to pat dry the area after cleansing. Parents should also be advised to avoid carrying their baby in a sling for prolonged periods as this can result in friction injury in the nappy area.

  • Treatment for neurogenic bowel aims to establish predictable bowel movements and social continence. Interventions may include dietary modifications, use of laxatives, irrigation, or enemas.[116]

  • Families should be counselled about preventive child healthcare, including developmental surveillance, immunisation, vision, and hearing.[74]

Adult

Adults with spina bifida should continue regular monitoring by a neurosurgeon who is familiar with spina bifida care. There are a limited number of consensus and expert opinion articles on the medical care for adults with spina bifida.[74][117][118][119][120][121]

Hydrocephalus

  • Standard protocols for the management of adult-onset hydrocephalus may miss subtle signs of shunt malfunction in a patient with spina bifida, such as dysphagia, hoarseness, stridor, occipital headaches, arching of the neck, and snoring. Hydrocephalus that is present in adults with spina bifida is a very different condition from the type of hydrocephalus that begins in adulthood as a result of haemorrhage, infection, or tumour.​[122]​

Reproductive health

  • Sexuality and reproductive healthcare of adults with spina bifida requires specific treatment considerations.

  • Loss of efferent fibres in adult males leads to impotence as well as to retrograde ejaculation, both of which decrease fertility. Sildenafil has been shown to help erectile dysfunction in men with spina bifida.[123] Spina Bifida Association of America: men's health Opens in new window

  • Decreased perineal sensation diminishes orgasmic sex in both males and females, and both are at increased risk for skin ulceration of the genitalia.

  • In addition, faecal and urinary incontinence have been shown to affect self-esteem and social and sexual function.[124]

  • Latex condoms should be avoided due to the high prevalence of latex allergies in this population.[125]

  • Because of the increased risk of having an offspring with spina bifida, all women of reproductive age who have spina bifida should receive folic acid supplementation at the higher dose of 4 to 5 mg/day before and during the first trimester of their pregnancy.[54][61] Women with spina bifida who become pregnant generally have a positive outcome with relatively low complication rates.[126] Spina Bifida Association of America: health care for women Opens in new window

Lymphoedema

  • A relatively common finding among adults with spina bifida is lymphoedema of the lower extremities. In one study, adults with spina bifida had almost a 100-fold increased risk of lymphoedema compared to the general population. Lymphoedema was more common in those with higher-level (thoracic) impairment and those who were obese.

  • Cellulitis and decubitus ulcers are more common in those with lymphoedema.[127]

Osteoporosis

  • Osteoporosis is more common in adults with spina bifida than in other adults. In a Swedish study, 33% of subjects had osteoporosis in at least one of the measured sites.[128]

  • Despite high rates of osteoporosis among adults, spontaneous fractures are actually less common in adulthood than during the adolescent years.[129]

  • Medical factors such as urinary diversion, renal insufficiency, and medication for epilepsy increase the risk for osteoporosis.

  • The optimal strategies for treatment and prevention in this population have not been established.

Hypertension

  • One study documented hypertension or pre-hypertension in more than half of young adults with spina bifida at a US regional spina bifida centre. Early screening and intervention for elevated blood pressure in individuals with spina bifida should be considered.[130]

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