Highlights & Basics
- Spina bifida and neural tube defects result from abnormal neurulation during the first 4 weeks of embryogenesis. They are caused by interaction of genetic and environmental factors.
- Preventable with maternal folate supplementation or fortification.
- Can affect the brain (anencephaly, encephalocele) or any level of the spinal axis, although most commonly involves the lumbosacral region. Not to be confused with spina bifida occulta, a fusion defect that affects the vertebral arches only and is a clinically insignificant radiologic finding in 10% of the general population.
- Defects of the spinal cord are classified as open (not covered by skin) or closed (covered by skin). Open defects include myelomeningocele, when both the spinal cord and the meninges are exposed, or meningocele, when only the meninges are exposed. Closed spina bifida is a diverse group of lesions that includes fatty tumors within the spine (lipomeningocele) or intraspinal cartilage or bone (diastematomyelia).
- Results in variable paralysis and sensory loss in the legs, orthopedic deformities, scoliosis, neurogenic bowel and bladder, hydrocephalus, and Chiari II malformation. Often associated with nonverbal learning disability and executive dysfunction, although intelligence is typically not impaired.
- Most neural tube defects are detected prenatally on ultrasound or clinically at birth.
- Prenatal treatment in selected cases involves repair of the defect at an experienced fetal surgery center. More typically, cele repair is performed within 1 to 3 days of term delivery.
- A multidisciplinary approach to care is important across the lifespan.
Quick Reference
History & Exam
Key Factors
maternal risk factors for child with spina bifida
history of elevated triple or quadruple screening test during prenatal assessment
history of abnormality on prenatal ultrasound
open spina bifida lesion: myelomeningocele, myeloschisis, meningocele
closed spina bifida lesion: asymmetric gluteal fold or dimple, hemangioma, hairy patch, or other cutaneous markings
bulging fontanelle
rapid head growth
abnormal urinary voiding
leakage of meconium or stool
midline congenital anomalies: cleft lip or palate, cardiac murmur
arching of neck
Other Factors
absence of anal wink/rectal tone
downward deviation of the eyes (sundowning)
upward and lateral deviation of eyes
abnormal cry
breathing abnormalities: apnea, inspiratory stridor, snoring
facial asymmetry
asymmetry of spontaneous arm and leg movement
difficulty with diapering or dressing
abnormal muscle tone and bulk in arms and legs
decreased sensation
hip subluxation or dislocation
clubfoot (equinovarus deformity)
vertical talus deformity
hip and knee flexion contractures
feeding difficulties
congenital scoliosis
congenital kyphosis
Diagnostics Tests
1st Tests to Order
prenatal triple/quadruple test
prenatal ultrasound
fetal MRI
cranial ultrasound
spinal ultrasound
CT head
urine culture
serum BUN and creatinine
renal ultrasound
urodynamic study
voiding cystourethrogram (VCUG)
Other Tests to consider
prenatal amniocentesis or postnatal chromosomal analysis
fluorescence in situ hybridization (FISH) testing
MRI brain and spine
hip ultrasound
hip x-ray
fetal echocardiography
polysomnography
Treatment Options
presumptive
prenatal diagnosis
parental genetic counseling + multidisciplinary approach
specialized obstetric care + planned birth
acute
neonate or infant
neonate or infant
with severe hydrocephalus
with high-risk neurogenic bladder
with bacteriuria
with orthopedic deformities
Definition
Classifications
Neural tube defects of the spinal cord
- Myelomeningocele: herniation of both meninges and spinal cord. Associated with hydrocephalus and Chiari II malformation.Images
- Myeloschisis: herniation of meninges and spinal elements. Characterized by flattened, plate-like mass of disorganized neural tissue.
- Meningocele: herniation of the meninges without involvement of spinal elements.Image
- Spine defects that are associated with a visible abnormality of the back such as asymmetric gluteal fold or dimple, hemangioma, hairy patch, or other cutaneous markings. These lesions are also referred to as occult spinal dysraphism.
- Myelocystocele: multicystic lesion continuous with the central canal of the spinal cord; associated with exstrophy of the cloaca.
- Lipomyelomeningocele, lipomeningocele, lipomyelocystocele: closed defects associated with fatty tumors.
- Congenital tethered spinal cord: lower end of the spinal cord has abnormal attachment to vertebral column or subcutaneous tissues. Often associated with low-lying conus (below L2-L3 interspace).
- Fatty filum terminale: fatty tumor at the end of the spinal cord.
- Thickened filum terminale: thickening at the end of the spinal cord.
- Diastematomyelia: fibrous bands, bone, or cartilage in the spinal canal; often associated with split spine.
- Syringomyelia: dilation of the central canal of the spinal cord. Can result in scoliosis, upper extremity weakness, and numbness; associated with tethered cord and shunt malfunction.
- Dermal sinus tract: connection between the spinal canal and the skin.
- Spina bifida occulta (skin covered with no visible abnormalities of the back)
- Vertebral fusion defect only, without spine involvement and of no clinical significance. Incidental radiologic finding present in 10% to 15% of the population.Images
Neural tube defects of the brain
- Anencephaly: total or partial absence of brain and calvarium. Many fetuses with anencephaly are spontaneously aborted; few survive infancy.
- Iniencephaly: abnormal or incomplete closure of the neural tube in the occipital region, which results in severe retroflexion of neck and trunk; incompatible with life.
- Encephalocele: defect in calvarium with protrusion of brain, most often in occipital region. Occipital encephaloceles are associated with intellectual disability, hydrocephalus, spasticity, and seizures. Patients with frontal encephaloceles have better developmental outcomes.
- Craniomeningocele: defect in calvarium with protrusion of meninges.
Neural tube defects of both the brain and spinal cord
- Craniorachischisis: anencephaly accompanied by contiguous bony defect of spine; incompatible with life.
Vignette
Common Vignette
Epidemiology
Etiology
Pathophysiology
Images
Diagnostic Approach
Prenatal history
Newborn and infancy
- Shortly after birth and during early infancy it is important to ask about the presence of feeding difficulties, which can be related to weakness in brainstem innervated muscles; symptoms of hydrocephalus including arching of the neck or stridulous cry, rapid head growth, bulging of the fontanelle, downward deviation of the eyes (sundowning); and whether or not asymmetry has been noted in the baby's spontaneous movement of the arms and legs.
- Stooling and voiding patterns should also be discussed as neurogenic bladder and bowel are common features, although the latter is rarely a problem in infancy. Infants should wet a minimum of 4 diapers in a 24-hour period. A distended bladder and decreased urine output suggests incomplete emptying. Constant urinary dribbling suggests an open bladder outlet, overflow incontinence, or an ectopic ureter. Oozing of stool suggests low anal sphincter tone. Constipation is unusual in the neonatal period.
- Difficulty with diapering or dressing should be established. This may indicate decreased range of motion in the legs or the presence of spasticity.
- The Chiari II malformation is present at birth in approximately two-thirds of infants who have undergone prenatal closure of the myelomeningocele and nearly all (96%) infants who undergo postnatal closure.[80] [81] [82] This consists of caudal displacement of the cerebellar tonsils and vermis, caudal medulla, and occasionally the fourth ventricle, into the cervical spinal canal. Some infants may also have associated findings such as dysgenesis of corpus callosum and abnormalities of neuronal migration and brain sulcation. These findings are associated with an increased risk for learning disability. Symptoms related to the Chiari malformation are a clinical concern for 15% to 35% of patients and can be life-threatening in the first 3 months of life.[81] [83] These include choking, nasal regurgitation, vomiting, reflux, aspiration pneumonias, apnea, arching of the neck, snoring, inspiratory stridor, and a hoarse or high-pitched cry.
- Lesions that are not covered by skin are termed open spina bifida. Types include the following.
- Myelomeningocele: herniation of both meninges and spinal cord. Associated with hydrocephalus and Chiari II malformation.
- Myeloschisis: herniation of meninges and spinal elements. Characterized by flattened, plate-like mass of disorganized neural tissue.Meningocele: herniation of the meninges without involvement of spinal elements.
- Lesions that are covered by skin are termed closed spina bifida. They are usually associated with a visible abnormality of the back, such as asymmetric gluteal fold or dimple, hemangioma, hairy patch, or other cutaneous markings.Images
- Growth parameters should be monitored, including daily head circumference and fontanelle size. Rapid head growth (crossing of 2 percentile categories) and bulging of the fontanelle indicate progressive hydrocephalus.
- Inspection for major or minor congenital anomalies should be performed, particularly midline congenital anomalies such as cleft lip or palate and cardiac murmur. These findings, if present, should prompt genetic evaluation for trisomy 13, trisomy 18, and 22q deletion syndrome if not already tested prenatally.
- Facial asymmetry and other cranial nerve abnormalities, including upward and lateral gaze deviation, palate elevation, weak suck, and high-pitched cry, are signs of raised intracranial pressure and symptomatic Chiari II malformation that require close monitoring by a neurosurgeon.
- The presence of any orthopedic deformities should be assessed, including congenital scoliosis, congenital kyphosis, subluxed or dislocated hips (as demonstrated by asymmetric hip abduction, or positive Barlow or Ortolani sign: eliciting a clunk from the hip as it relocates), knee and hip flexion contractures, clubfoot (equinovarus deformity), and vertical talus (rigid rocker-bottom flat foot).
- Position of the newborn or infant at rest and volitional movement when alert should be noted, including abdominal muscle control. Muscle tone and bulk in upper and lower extremities should be evaluated as well as presence of anal wink and rectal tone. Tone varies depending on the level of the lesion. Dribbling of urine or leakage of meconium or stool suggests decreased bladder sphincter tone and rectal tone, respectively. Sensory function is often decreased and should be assessed by checking pinprick sensation in the feet, legs, and buttocks, which is demonstrated by reduced or absent response to pinprick.
- Cranial ultrasound is used in cases of suspected hydrocephalus to estimate cortical mantle thickness and monitor progression of ventricle size prior to shunt placement. Asymptomatic infants who have stable mild or moderate ventriculomegaly may be monitored safely for up to 5 months as long as cortical mantle thickness is at least 3.5 cm on cranial ultrasound.
- Spinal ultrasound is recommended in neonates with lumbosacral stigmata known to be associated with spinal dysraphism, such as midline or paramedian masses and/or neurocutaneous markings, pinpoint midline dimples, and paramedian deep dimples. Ultrasound may reveal defects such as tethering, diastomyelia, hydromyelia, or syringomyelia.[84]
- A CT scan may also be performed after shunt insertion to confirm ventriculoperitoneal catheter placement. Low radiation techniques should be used, and repeated exposure should be avoided if alternate imaging modalities are available.
- MRI scan is used to evaluate structural brain anomalies such as agenesis of corpus callosum. MRI is indicated if Chiari symptoms are severe or if the neurologic exam is markedly asymmetric. These symptoms warrant close follow-up by the neurosurgeon and MRI imaging of the head and cervical spine to evaluate for progressive hydrocephalus and/or an associated syringomyelia (extension of the central canal with obstruction and cyst formation in the spinal cord, known as a syrinx). Chiari malformation is the caudal displacement of the cerebellar tonsils and vermis, caudal medulla, and occasionally the fourth ventricle, into the cervical spinal canal.Image
- Urine culture should be obtained in all newborns with spina bifida. 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.
- Serum creatinine and BUN should be obtained once the infant is more than 5 days old. Earlier studies reflect maternal levels. If BUN and creatinine are elevated, intermittent catheterization is started and a urologist and nephrologist consulted.
- Renal and bladder ultrasound should be obtained several days after the cele repair to determine kidney size and configuration, to estimate bladder capacity, and to evaluate for presence of hydronephrosis.
- Urodynamic study is recommended between 6 and 12 months of age to determine detrusor leak-point pressure and presence of detrusor sphincter dyssynergia, as well as bladder capacity and compliance. This information guides management of neurogenic bladder.
- Voiding cystourethrogram (VCUG) is performed only if the renal ultrasound shows hydronephrosis, to identify whether vesicoureteral reflux is present and antibiotic prophylaxis is indicated. Some centers prefer to perform a urodynamic study at 4 to 6 weeks of age for this purpose.[85] [86] [87] However, not all centers are able to perform urodynamic studies in neonates; many will just perform a renal and bladder ultrasound plus a VCUG to assess bladder function at this stage.
- Chromosome testing for trisomy 18 and trisomy 13 and FISH testing for 22q deletion syndrome are indicated (if not already done prenatally) if the newborn exam documents other major congenital anomalies or if there are more than 3 minor congenital anomalies in addition to spina bifida.
- Hip ultrasound is obtained for infants 3 months of age or younger, with sacral motor levels (likely to be ambulatory), who have asymmetric hip abduction or positive Barlow or Ortolani sign (eliciting a clunk from the hip as it relocates). Beyond 3 months of age, conventional x-ray studies are used to evaluate the hips. There is controversy about whether imaging is needed for children with higher lesion levels, because treatment is of little benefit and there is a high risk of re-dislocation in nonambulatory children.
- Polysomnography should be considered across the lifespan of the patient to identify Chiari-related sleep-disordered breathing such as central sleep apnea and hypoventilation.
Risk Factors
History & Exam
Tests
Differential Diagnosis
Differentiating Signs/Symptoms
- A sporadic disorder characterized by congenital acute-angle kyphosis or kyphoscoliosis that is localized to a spinal segment, usually in the thoracolumbar or upper lumbar spine.[89]
- The spine is normal above and below the affected area, and neurologic impairment is due to congenital hypoplasia or absence of roots at the segment rather than to cord tethering.
Differentiating Tests
- Plain radiographs will show vertebral anomalies such as hemivertebrae.
- MRI spine documents the specific spine and cord pathology such as vertebrae fusions or hemivertebrae, split cord, nerve malpositions, and low-lying cord.
Differentiating Signs/Symptoms
- A rare disorder associated with maternal diabetes that affects the sacral or lumbosacral spine.
- Patients typically have sparing of sensation and characteristic sacral anomalies.
Differentiating Tests
- Plain radiographs and MRI spine will show the characteristic bony defects.
Differentiating Signs/Symptoms
- Autosomal recessive disorder characterized by short trunk dwarfism, multiple segmentation anomalies of the vertebral column, and costal anomalies.
Differentiating Tests
- Plain radiographs and MRI spine identify the dystrophic vertebrae and/or multiple fused vertebrae, kyphosis, split cord, syrinx, and dystrophic cord.
Differentiating Signs/Symptoms
- A nonrandom association of multiple midline congenital anomalies including vertebral, anal, and cardiac defects; tracheoesophageal fistula; renal anomalies; and limb anomalies.
Differentiating Tests
- Plain radiographs will show bony defects.
- Barium enema identifies fistulas and imperforate anus.
- Echocardiography reveals cardiac anomalies.
- Renal ultrasound will identify hydronephrosis and associated renal anomalies.
- MRI identifies characteristic spine and cord malformations.
Criteria
- Thoracic: typically do not walk unless in reciprocating gait orthosis; none or minimal leg movement.
- Mid lumbar: typically walk short distances, with ankle-foot orthoses (AFOs) or higher braces; walker or crutches used.
- Low lumbar: typically walk outdoors; may use walker, crutches, or cane as well as AFOs.
- Sacral: typically have few or no limitations in walking, but may need AFOs or supportive shoe inserts.
- Thoracic/high lumbar: characterized by lack of quadriceps strength such that long leg (hip-knee-ankle) bracing is required for household ambulation and a wheelchair is used from an early age for mobility in the community.
- Low lumbar: refers to L3 and L4 functional motor levels associated with good quadriceps strength and medial hamstring function, but weak gluteus medius and gluteus maximus function. This results in a Trendelenburg gait that stresses the medial aspect of the knee joint and that is energy inefficient. The use of forearm crutches for a swing-through gait and AFOs are recommended to maintain alignment and to improve functional mobility, and to prevent knee joint arthritis in later years. Community ambulation is possible; the use of a wheelchair is often preferred for longer distances.
- High sacral: characterized by a weakness of the intrinsic muscles of the foot with or without a weakness in the ankle plantar flexors, such that there is no discernable gait abnormality. Prognosis for lifelong ambulation is excellent. Those with weak plantar flexors benefit from AFOs but do not generally need to use crutches.
Screening
Prenatal triple or quadruple screen
Prenatal ultrasound
Treatment Approach
Prenatal
- The genetic counselor 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 center (or a specialist pediatrician 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 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, apnea, and leakage of cerebrospinal fluid at the cele repair site. A subgaleal shunt can be placed as a temporary measure in preterm 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 centers. Third ventriculostomy is a treatment option in developing countries where access to follow-up care may be problematic.[103][104] 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 favorable than shunt placement, although a recent review showed similar quality-adjusted life year (QALY) at 1 year of follow-up.[105] 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.[106] 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.[107]
- 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 reoperation 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.[108]
- Tracheostomy, Nissen fundoplication, and gastrostomy tube placement is often needed for these infants due to severe oromotor dysfunction and airway compromise.
- The initial investigation of a newborn with spina bifida requires a prompt urologic evaluation consisting of voiding history, physical exam, urine culture, serum BUN/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 catheterization is often initiated before back closure and continued into the postoperative period to ensure maintenance of a low-pressure reservoir. The frequency of catheterizations 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 catheterization.
- 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.[109] There is controversy about the neurocognitive impact of oxybutynin on the developing brain. However, clean intermittent catheterization and anticholinergic therapy in patients with detrusor sphincter dyssynergia has dramatically reduced the need for augmentation cystoplasty later in life.[110] A vesicostomy may be considered if the bladder is deemed high risk and there is nonadherence to intermittent catheterization.[111] [112]
- Videourodynamics 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 urologic 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 catheterization who are merely colonized. Algorithms for the diagnosis and management of neurogenic bladder in patients with spina bifida have been developed and are currently being evaluated by the Centers for Disease Control and Prevention Spina Bifida National Registry.[113]
- Clubfoot 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.[114] 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 clubfoot deformity has been corrected.
- Treatment of vertical talus can include physical therapy 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, diapering, or perineal care.[115] [116] 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 physical therapy, 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.
- The cele repair site should be protected from fecal 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 diaper dermatitis. This is best managed with barrier cream that contains zinc oxide and by leaving the diaper 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 diaper 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.[117]
- Families should be counseled about preventive child healthcare, including developmental surveillance, immunization, vision, and hearing.[74]
Adult
- 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 hemorrhage, infection, or tumor.[123]
- Sexuality and reproductive healthcare of adults with spina bifida requires specific treatment considerations.
- Loss of efferent fibers 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.[124] Spina Bifida Association of America: men's health
- 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, fecal and urinary incontinence have been shown to affect self-esteem and social and sexual function.[125]
- Latex condoms should be avoided due to the high prevalence of latex allergies in this population.[126]
- 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 mg/day before and during the first trimester of their pregnancy.[54] [64] Women with spina bifida who become pregnant generally have a positive outcome with relatively low complication rates.[127] Spina Bifida Association of America: health care for women
- A relatively common finding among adults with spina bifida is lymphedema of the lower extremities. In one study, adults with spina bifida had almost a 100-fold increased risk of lymphedema compared to the general population. Lymphedema 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 lymphedema.[128]
- 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.[129]
- Despite high rates of osteoporosis among adults, spontaneous fractures are actually less common in adulthood than during the adolescent years.[130]
- 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.
- One study documented hypertension or prehypertension in more than half of young adults with spina bifida at a regional spina bifida center. Early screening and intervention for elevated blood pressure in individuals with spina bifida should be considered.[131]
Treatment Options
prenatal diagnosis
parental genetic counseling + multidisciplinary approach
Comments
- Consultation with a genetic counselor, the medical director of the regional spina bifida center (or a specialist pediatrician in spina bifida), and a pediatric neurosurgeon is recommended prior to delivery in order to discuss the diagnosis, prognosis, and care plan at time of delivery.
- The genetic counselor 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 center (or a specialist pediatrician 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.
specialized obstetric care + planned birth
Comments
- Most fetuses affected by spina bifida can be carried to term. However, prenatal 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.[64]
- Fetal 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] [97][98] In 2011, the Management of Myelomeningocele Study (MOMS), a randomized prospective efficacy and safety trial of prenatal 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 prenatal closures.[82] However, 13% of babies who underwent prenatal surgery were born prior to 30 weeks' gestation. Infants in the prenatal 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 prenatal 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 prenatal surgery on bowel and bladder function. A 30-month follow-up study documented that prenatal surgery did not significantly reduce the need for clean intermittent catheterization, but was associated with less bladder trabeculation and open bladder neck.[99]
- The MOMS trial was performed at 3 renowned fetal surgery centers 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 centers are not standardized, and because obesity is common among women carrying a fetus with myelomeningocele, the results of this landmark study cannot yet be generalized to a standard-of-care recommendation. At present, there is insufficient evidence to recommend drawing firm conclusions on the benefits or harms of prenatal repair as an intervention for fetuses with spina bifida. Current evidence is limited by the small number of pregnancies included in the single randomized trial that has been conducted.[97] [100] Therefore maternal-fetal surgery for myelomeningocele repair should be offered only to carefully selected patients at centers with high levels of expertise and resources.[97]
- The option for cesarean delivery should be reviewed. Although commonly performed, families should be made aware that there have been no definitive studies to show that this improves the outcome for a baby with severe fetal malformations.[101] However, if prenatal myelomeningocele surgical repair has been carried out, prelabor cesarean delivery, at or before 37 weeks, is recommended because of the risk of rupture of the hysterotomy scar during labor.[64]
neonate or infant
surgical repair of cele + intravenous antibiotics
Primary Options
- ampicillin
consult specialist for guidance on dose
and
- gentamicin
consult specialist for guidance on dose
- ampicillin
Comments
- 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, as for neonatal meningitis, to prevent infection. The cele closure is typically performed within 1 to 3 days of delivery.[82]
monitoring of head circumference and supportive care
Comments
- Infants with stable mild to moderate ventriculomegaly should be monitored closely for signs of hydrocephalus. This may be achieved 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.
- The cele repair site should be protected from fecal 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 diaper dermatitis. This is best managed with barrier cream that contains zinc oxide and by leaving the diaper 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 diaper 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.[117]
- Families should be counseled about preventive child healthcare, including developmental surveillance, immunization, vision, and hearing screens.[74]
Chiari decompression surgery and/or tracheostomy and/or Nissen/gastrostomy tube placement
Comments
- 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 reoperation 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.[108]
- Tracheostomy, Nissen fundoplication, and gastrostomy tube placement is often needed for these infants due to severe oromotor dysfunction and airway compromise.
with severe hydrocephalus
shunt placement
Comments
- Neonates born with severe hydrocephalus have a ventriculoperitoneal shunt placed at the same time as the cele repair is performed.
- A subgaleal shunt can be placed as a temporary measure in preterm infants, and may obviate the need for permanent shunting in some patients.
- Third ventriculostomy is a treatment option in developing countries where access to follow-up care may be problematic.[103][104] 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 favorable than shunt placement, although a recent review showed similar quality-adjusted life year (QALY) at 1 year of follow-up.[105] 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.[106]
with high-risk neurogenic bladder
intermittent catheterization and ongoing urologic surveillance
Comments
- Clean intermittent catheterization is often initiated before back closure and continued into the postoperative period to ensure maintenance of a low-pressure reservoir. The frequency of catheterizations 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 catheterization.
- A vesicostomy may be considered if the bladder is deemed high risk and there is nonadherence to intermittent catheterization.
- Long term, as the patient progresses through infancy into childhood and adolescence, ongoing urologic 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 catheterization who are merely colonized. Algorithms for the diagnosis and management of neurogenic bladder in patients with spina bifida have been developed and are currently being evaluated by the Centers for Disease Control and Prevention Spina Bifida National Registry.[113]
prophylactic antibiotic therapy
Primary Options
- amoxicillin
children ≤2 months: 25 mg/kg/day orally given in divided doses every 12-24 hours
- amoxicillin
- nitrofurantoin
children >2 months: 1-2 mg/kg/day orally given in divided doses every 12-24 hours, maximum 100 mg/day
- nitrofurantoin
Comments
- If hydronephrosis is present, prophylactic antibiotics should be instituted and voiding cystourethrography arranged.
- Amoxicillin is recommended until the child is over 2 months of age, at which point either nitrofurantoin or trimethoprim/sulfamethoxazole is recommended.
anticholinergic
Primary Options
- oxybutynin
consult specialist for guidance on dose
- oxybutynin
Comments
- For those infants with detrusor sphincter dyssynergia on urodynamic study, oxybutynin may be started for its anticholinergic effect, to relax the bladder wall, reduce pressure, and protect the upper urinary tract.[109] There is controversy about the neurocognitive impact of oxybutynin on the developing brain. However, clean intermittent catheterization and anticholinergic therapy in patients with detrusor sphincter dyssynergia has dramatically reduced the need for augmentation cystoplasty later in life.[110]
with bacteriuria
antibiotic therapy
Primary Options
- ampicillin
consult specialist for guidance on dose
and
- gentamicin
consult specialist for guidance on dose
- ampicillin
Comments
- 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.
with orthopedic deformities
physical therapy ± orthopedic surgery
Comments
- Clubfoot 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.[114] The goal is to have a braceable foot that can weight-bear in an ankle-foot orthosis or shoe.
- Treatment of vertical talus can include physical therapy 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.
- 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, diapering, or perineal care.[115] [116] 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 physical therapy, involving passive ROM exercises. As the child gets older, physical therapy focusing on functional mobility and adapted physical education to promote physical activity is recommended. Data on the efficacy of electrical stimulation, exercise training, and motor skills training on muscle strength in children with spina bifida are outdated and limited.[132] Surgery is rarely indicated in the newborn period or infancy.
ankle-foot orthoses (AFOs)
Comments
- Once clubfoot deformity has been corrected, AFOs may be fitted to help maintain position of the foot during growth.
- AFOs are usually prescribed for vertical talus deformity when the infant begins to weight-bear.
adult
regular monitoring by neurosurgeon
with hydrocephalus
specialist referral
Comments
- 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 hemorrhage, infection, or tumor.[123]
with lymphedema
specialist referral
Comments
- A relatively common finding among adults with spina bifida is lymphedema of the lower extremities.
- In one study, adults with spina bifida had almost a 100-fold increased risk of lymphedema compared to the general population. Lymphedema 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 lymphedema.[128]
with osteoporosis
specialist referral
Comments
- 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.[129]
- Despite high rates of osteoporosis among adults, spontaneous fractures are actually less common in adulthood than during the adolescent years.[130]
- 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.
with erectile dysfunction
sildenafil
Primary Options
- sildenafil
consult specialist for guidance on dose
- sildenafil
Comments
- Loss of efferent fibers 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.[124]
- Latex condoms should be avoided due to the high prevalence of latex allergies in this population.[126]
women of reproductive age
counseling + high-dose folic acid supplementation
Primary Options
folic acid (vitamin B9)
4 mg orally once daily
Comments
with hypertension
early screening and treatment
Comments
- One study documented hypertension or prehypertension in more than half of young adults with spina bifida at a regional spina bifida center. Early screening and intervention for elevated blood pressure in individuals with spina bifida should be considered.[131]
Emerging Tx
Botulinum toxin
Mirabegron
Prevention
Primary Prevention
Follow-Up Overview
Prognosis
Infancy
Childhood
Adolescents and young adults
Pregnancy
Adults
Monitoring
- Shunt malfunction (headache, vomiting, somnolence, personality change, rapid head growth, seizures)
- Chiari II malformation (ophthalmoplegia; sleep apnea; arching of the neck; dysphagia)Image
- Syrinx (shoulder numbness; hyperreflexia or asymmetry of the upper extremities; progressive scoliosis; hand weakness; ulnar nerve entrapment; carpal tunnel syndrome)
- Tethered cord (back pain; rapidly progressive scoliosis; evolving cavovarus deformity; leg spasms; change in motor or sensory level; change in bowel, bladder, or sexual functioning; progressive symptoms associated with Chiari malformation)Image
- Bowel and bladder functioning.
- Because bladder function can change significantly as spinal shock from cele repair resolves, it is essential to monitor upper tracts with serial renal and bladder ultrasound studies on a quarterly basis during the first year of life. Hydronephrosis warrants further investigation with videourodynamics or a voiding cystourethrogram (VCUG). Urodynamics is recommended between 6 to 12 months of age to determine whether clean intermittent catheterization is needed. If a child develops urinary tract infections (UTIs), videourodynamics or VCUG is used to identify reflux and to guide initiation of antibiotic prophylaxis.
- Asymptomatic infants who have stable, mild, or moderate ventriculomegaly may be monitored safely for up to 5 months with cranial ultrasound as long as cortical mantle thickness is at least 3.5 cm. Hydrocephalus is unlikely to progress after 9 months of age.
- An MRI of the head is obtained after shunt placement and used as a baseline study to document ventricle size and structural brain anomalies, including the Chiari II malformation. Comparison studies may be obtained if there are signs or symptoms of shunt malfunction. CT head may also be obtained as a baseline study, although caution should be used to limit radiation exposure whenever possible.
- The focus should be on careful review of fine motor, gross motor, language, social, and adaptive functioning, and the developmental and social support services that are in place to assist the family. Formal developmental assessment using standardized instruments is necessary to assess these elements. In addition, specific attention should be paid to physical therapy goals, orthotics, and/or other equipment needs. Concerns regarding vision should be elicited because visual motor integration difficulties can be an early sign of nonverbal learning disability.
- Changes should be noted in walking ability and endurance. New muscle atrophy and any loss of motor milestones (crawling, walking, and sitting) should be evaluated. Equipment used should be discussed, such as leg braces, bath equipment, and wheeled mobility, as well as the presence of stairs in the home and ability to traverse them.
- Height, weight, and BMI should be measured at each visit. Short stature may result from a combination of scoliosis and precocious puberty.
- Strabismus affects up to 20% of children with myelomeningocele. Ophthalmologic referral is recommended.
- Orthopedic assessment should include re-evaluation of scoliosis, kyphosis, hip adduction contractures, and orthopedic deformities such as clubfoot, equinovarus, calcaneus valgus, or vertical talus. Manual muscle testing of the lower and upper extremities should be performed, with particular focus on changes in muscle tone or atrophy (e.g., presence of spasticity, asymmetry in muscle strength). An anteroposterior pelvis x-ray is usually done at age 2 years to establish whether there is hip dysplasia or dislocation, which may affect gait or sitting balance, or contribute to pressure sores on the hips or buttocks.[116] Scoliosis series is necessary for evaluation of progression of the curve every 1 to 2 years, or if there is concern of progression.
- Routine surveillance of bladder function with serial renal and bladder ultrasound studies is recommended every 6 to 12 months until school age (annually for older children and adolescents). If hydronephrosis is noted, videourodynamics or voiding cystourethrogram is performed in order to identify reflux and to guide initiation of antibiotic prophylaxis. Although a baseline urodynamic study is usually performed between 6 and 12 months old, it is also indicated whenever there is concern regarding a change in bladder function. It is used to determine whether the patient has a high-risk versus low-risk bladder with regards to upper tract deterioration. Some centers include annual urodynamic studies in their protocol for tethered cord surveillance.[160]
- Independence with self-care for bowel and bladder management should be attained by the age of 7 years. The antegrade colonic enema is a safe surgical treatment option for severe constipation and fecal soiling that facilitates independence and that has been shown to improve the quality of life for children and families.[161]
- CT head study and shunt series is indicated in the acute setting only if there are signs or symptoms of shunt malfunction. MRI is preferred in the nonacute setting for detailed visualization of neuroanatomy to guide surgical intervention.
- School performance, social functioning, and independence with self-care (e.g., intermittent catheterization, daily skin checks, and transfer technique) should be the focus in this age group. It is appropriate to involve the patient directly from an early age. Youths should be offered part of an appointment without parents, to discuss sensitive topics such as risk-taking behavior and mood, and should be a key informant during the history if cognitively able.
- It is important to monitor school performance closely, because academic decline can be a subtle presentation of shunt malfunction. The presence of nonverbal learning disability, executive dysfunction, and attention deficit should be evaluated. Neuropsychological assessment to identify subtle short-term memory deficits and visual-motor difficulties should be arranged for children who do not respond to adaptations and appropriate educational interventions.
- It is also important to specifically ask about exercise and nutrition, and to review lifestyle measures for the prevention of obesity.
- Mobility should be monitored, and note should be made of the chosen forms of functional mobility (walking, with devices, or wheeled). Maintenance of knee range of motion becomes difficult with limb growth, and may require soft-tissue releases (hamstrings) to maintain walking efficiency. Ankle muscle imbalance may also require correction to keep the foot in a weight-bearing position. Bone surgery to prevent foot deformity with growth and to correct tibial torsion can be offered. Surgical correction for scoliosis may be considered if severe, but may adversely affect walking and transfers. Anterior spinal fusion is preferred over combined anterior-posterior fusion for this reason.[164] It is necessary to ensure that the child has access to the kitchen and bathroom to develop skills, and is able to leave the home in case of emergency, via stairs or ramp if needed.
- For adolescents who have had augmentation cystoplasty (a procedure aimed at improving urinary continence), it is recommended that electrolytes, BUN, and creatinine be monitored annually. Creatinine clearance, in addition to electrolytes, BUN, and creatinine, should also be monitored annually for patients with an ileal conduit (indicated when adherence and/or fine motor difficulties preclude independence with bladder management).
- Screening renal and bladder ultrasound should be obtained annually if the patient is stable and there are no intercurrent UTIs. As for the younger age groups, MRI or CT head and shunt series is indicated only if there are signs or symptoms of shunt malfunction. A sleep study is usually necessary if there is a history of sleep apnea. MRI brain and spine should be ordered if there are progressive symptoms associated with the Chiari malformation. Plain posteroanterior or lateral spine films should be obtained at the onset of the preadolescent growth spurt and monitored every 6 to 12 months if there is a clinical scoliosis. Gait analysis may assist in planning orthopedic procedures. Pressure mapping of the seating device may help determine areas of pressure and facilitate correction for recurrent ischial pressure sores.
- Although most patients with spina bifida do not have an intellectual disability, many of those with shunted hydrocephalus have some degree of nonverbal learning disability and/or executive dysfunction. This can have a significant impact on their ability to navigate the healthcare system and to follow through on medical recommendations. It is therefore important to explore social support and agency connections for independent living, transportation, and coordination of care. Detailed information should also be sought regarding difficulties with short-term memory, decision making, taking initiative, and organization. It is important to identify adaptations (e.g., reminder watch for catheterization) and supports (vocational counseling) that are in place for the adult patient with nonverbal learning disability and/or executive dysfunction.
- Funding streams for durable medical equipment and home health services should also be identified. It is useful to ask the patient to identify key individuals or entities with which communication may be anticipated. Guardianship should be considered for adults who cannot give informed consent or manage finances.
- Orthopedic assessment should address baseline functioning and any changes in mobility, transfers, presence of back or leg pain, past orthopedic surgeries, and history of fractures. Activities of daily living should be discussed with regards to how they are completed, what equipment is used, and if the equipment is appropriate and in good repair. This includes braces, crutches or walker, wheelchair, bath equipment, and ramp or lift. Household accessibility for daily activities and community transportation options should also be reviewed.
- Screening renal and bladder ultrasound is obtained annually if the patient is stable and there are no intercurrent UTIs. For patients who have had augmentation cystoplasty (a procedure aimed at improving urinary continence), it is recommended that electrolytes, BUN, and creatinine be monitored annually. In addition, an annual cystoscopy to evaluate for bladder cancer is recommended beginning 10 years after the surgery is performed, due to a lifetime risk of developing bladder cancer at the anastomosis site. Creatinine clearance, as well as electrolytes, BUN, and creatinine, should be monitored once a year for patients with an ileal conduit (indicated when adherence and/or fine motor difficulties preclude independence with bladder management).
- An MRI brain and spine and shunt series is recommended in early adulthood to document baseline anatomy. A CT head and shunt series is obtained in the acute setting if there are signs or symptoms of shunt malfunction such as headache and swelling along the shunt tract. An MRI spine is also obtained if there are symptoms of tethered cord such as back pain, rapidly progressive scoliosis, change in motor or sensory level, or change in bowel or bladder functioning. Shunt status should always be evaluated if there are signs or symptoms of tethered cord. MRI brain and spine is indicated if there are progressive symptoms associated with the Chiari malformation such as choking, gagging, new ophthalmoplegia or dysarthria, arching of neck, occipital notch tenderness, and sleep apnea. Sleep study is obtained if there is a history of sleep apnea.
- Careful skin examination for pressure or friction injury at insensate areas is essential. Pressure mapping of the seating device may help determine areas of pressure and facilitate correction for recurrent ischial pressure sores. Patients should be reminded about proper transfer technique and to periodically elevate their legs. This is because venous stasis and lymphedema are common among adults with spina bifida.[128]
Complications
Citations
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Key Articles
Other Online Resources
Referenced Articles
Guidelines
Diagnostic
Summary
Evidence-based recommendations on screening for, and diagnosis of, fetal neural tube defects.Published by
Society of Obstetricians and Gynaecologists of Canada
Published
2021
Summary
Provides recommendations for screening of congenital anomalies based on the availability of tests in the national health system of British Columbia, Canada.Published by
British Columbia Prenatal Genetic Screening Program
Published
2020
Summary
Guidelines covering the care of people with spina bifida of all ages, including sections on systems of care; psychosocial support and self-management; neuropsychology and neurosurgery; mobility, orthopedic, and physical activity; urology and sexual health; and several other specific health issues.Published by
Spina Bifida Association
Published
2018
Summary
Guidelines covering key elements and procedures for ultrasonographic examinations in the first, second, and third trimesters.Published by
American College of Radiology; American College of Obstetricians and Gynecologists; American Institute of Ultrasound in Medicine; Society for Maternal Fetal Medicine; Society of Radiologists in Ultrasound
Published
2018
Treatment
Summary
Recommendations on the use of open maternal-fetal surgery for myelomeningocele repair.Published by
American College of Obstetricians and Gynecologists
Published
2017 (reaffirmed 2022)
Summary
Evidence-based recommendations on the management of fetal neural tube defects.Published by
Society of Obstetricians and Gynaecologists of Canada
Published
2021
Summary
Official statements based on the consensus of experts and evidence that summarize current research and best-practice trends in relevant areas of assistive technology.Published by
Rehabilitation Engineering and Assistive Technology Society of North America
Published
2020
Summary
Guidelines covering the care of people with spina bifida of all ages, including sections on systems of care; psychosocial support and self-management; neuropsychology and neurosurgery; mobility, orthopedic, and physical activity; urology and sexual health; and several other specific health issues.Published by
Spina Bifida Association
Published
2018
Summary
Recommendation on folic acid supplementation for people who are planning to or could become pregnant.Published by
US Preventive Services Task Force
Published
2023
Summary
This guideline provides a comprehensive overview of the management of this condition.Published by
American Association of Neurological Surgeons; Congress of Neurological Surgeons
Published
2014
Credits
Patient Instructions
- Diagnosis, prognosis, and available services and support
- Options regarding termination of the pregnancy, fetal surgery, and the birth (e.g., cesarean birth), including benefits and risks of each approach
- For women for whom fetal myelomeningocele repair is an option, detailed information about the surgery and the intensive care required
- Initial treatment of the baby in the neonatal intensive care unit.