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.
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Citations
Ozek MM, Cinalli G, Maixner VJ, eds. Spina bifida management and outcome. Milan, Italy: Springer Press; 2008.
US Preventive Services Task Force, Barry MJ, Nicholson WK, 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][Full Text]
AIUM-ACR-ACOG-SMFM-SRU Practice Parameter for the performance of standard diagnostic obstetric ultrasound examinations. J Ultrasound Med. 2018 Nov;37(11):E13-24.[Abstract][Full Text]
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]
Grivell RM, Andersen C, Dodd JM. Prenatal versus postnatal repair procedures for spina bifida for improving infant and maternal outcomes. Cochrane Database Syst Rev. 2014 Oct 28;(10):CD008825.[Abstract][Full Text]
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