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.
- Can affect the brain (anencephaly, encephalocele) or any level of the spinal axis, most commonly the lumbosacral region.
- 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, tethered cord syndrome, neurogenic bowel and bladder, hydrocephalus, and Chiari II malformation. Often associated with nonverbal learning disability and executive dysfunction, although intelligence is typically not impaired.
- Preventable with maternal folate supplementation or fortification.
Quick Reference
History & Exam
Key Factors
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Definition
Epidemiology
Etiology
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Citations
US Preventive Services Task Force; Barry MJ, Nicholson WK, Silverstein M, et al. Folic acid supplementation to prevent neural tube defects: US Preventive Services Task Force reaffirmation recommendation statement. JAMA. 2023 Aug 1;330(5):454-9.[Abstract]
Douglas Wilson R, Van Mieghem T, Langlois S, et al. Guideline no. 410: prevention, screening, diagnosis, and pregnancy management for fetal neural tube defects. J Obstet Gynaecol Can. 2021 Jan;43(1):124-39.e8.[Abstract]
Spina Bifida Association. Guidelines for the care of people with spina bifida. 2018 [internet publication].[Full Text]
Adzick NS, Thom EA, Spong CY, et al. A randomized trial of prenatal versus postnatal repair of myelomeningocele. N Engl J Med. 2011 Mar 17;364(11):993-1004.[Abstract][Full Text]
- Spina Bifida Association: educational issues among children with spina bifida
- National Center on Health, Physical Activity and Disability: spina bifida and exercise
- Spina Bifida Association: Did you look? Skin integrity bundle
- Got Transition
- Spina Bifida Association: men's health
- Spina Bifida Association: health care for women
- Spina Bifida Association: latex and latex allergy guideline
- Spina Bifida Association: lifespan bowel management protocol
- Image Gently: The Alliance for Radiation Safety in Pediatric Imaging
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