From the Guidelines
Assessment for spina bifida should involve a comprehensive evaluation that begins with prenatal screening through maternal serum alpha-fetoprotein testing and ultrasound imaging, typically performed between 16-18 weeks of pregnancy. This approach is crucial because spina bifida affects multiple body systems, with severity varying based on the location and extent of the spinal defect [ 1 ].
Key Components of Assessment
- Prenatal screening: maternal serum alpha-fetoprotein testing and ultrasound imaging
- Additional diagnostic tests: amniocentesis to measure alpha-fetoprotein levels in the amniotic fluid and detailed fetal MRI to assess the severity of the defect
- Postnatal assessment:
- Thorough neurological examination to evaluate muscle strength, sensation, and reflexes in the lower extremities
- Urological assessment to evaluate bladder function, as many patients develop neurogenic bladder
- Orthopedic evaluation to identify deformities like clubfoot or hip dislocation
- Developmental screening to monitor cognitive and motor milestones
- Brain imaging with MRI to assess for associated conditions like Chiari II malformation or hydrocephalus Early and comprehensive assessment enables timely interventions that can significantly improve outcomes and quality of life [ 1 ].
Importance of Early Intervention
The current literature emphasizes the importance of early urological involvement, although controversy remains regarding the optimal approach [ 1 ]. A multidisciplinary assessment approach is essential to address the complex needs of patients with spina bifida, and to improve their quality of life [ 1 ].
From the Research
Assessment for Spina Bifida
- The diagnostic features of spina bifida can be assessed using high-resolution ultrasound, which can accurately localize the site of osseous and soft tissue defects 2.
- Ultrasound can also identify additional findings such as kyphosis, scoliosis, and anomalous vertebrae, as well as associated conditions like cervical syrinx 2.
- The severity of neurological compromise in some fetuses can be estimated by detailed examination of the lower extremities, including flexion and extension motions at the hip, knee, and ankle joints 2.
Orthopedic Evaluation
- Orthopedic or musculoskeletal problems are common in individuals with spina bifida, and can affect function and mobility 3.
- Evaluation and treatment guidelines for specific age ranges are discussed, including general considerations and treatment guidelines for spinal deformity 3.
Hydrocephalus Treatment
- Myelomeningocele-associated hydrocephalus can be treated with ventriculoperitoneal shunt (VPS) or endoscopic third ventriculostomy (ETV) 4.
- The treatment modality rates were stable over time, but hydrocephalic patients in later years were less likely to receive hydrocephalus treatment during initial inpatient stay 4.
- Delayed hydrocephalus treatment was more prevalent in the later time period, and predictors of inpatient shunt failure included length of stay, shunt infection, jaundice, and delayed treatment 4.
Spina Bifida Management
- Spina bifida is a birth defect in which the vertebral column is open, often with spinal cord involvement, and the most clinically significant subtype is myelomeningocele (open spina bifida) 5.
- Primary prevention by periconceptional supplementation with folic acid has been demonstrated in clinical trials, leading to food fortification programmes in many countries 5.
- Individuals who survive to birth have their lesions closed surgically, with subsequent management of associated defects, including hydrocephalus, and urological and orthopaedic sequelae 5.
Hydrocephalus Treatment Rates
- The rate of hydrocephalus treatment in patients with myelomeningocele is 79.99%, which is consistent with the rates in previously published literature 6.
- There is a clear association between functional lesion level of the myelomeningocele and the need for hydrocephalus treatment, with more rostral functional lesion levels associated with higher rates of treated hydrocephalus 6.