Neural tube defects (NTDs) are developmental pathologies associated with undesirable lifelong consequences. Incidence of these pathologies differs between countries and regions depending on socio-economic and healthcare quality. It is also influenced by folic acid and zinc supplementation. Genetic factors influence probability of NTD, increasing risk of defect in siblings up to 3–8%. Estimated incidence in United States is 3–4/10000 live births, and worldwide incidence increases on about 10/10000 live births. Despite various types and localizations of spina bifida, in all of them neural tissue is in danger. This can lead to various types of neurologic disorders. Not only due to direct damaging of spinal cord and nerve roots but also other parts of central nervous system are also endangered by disturbed prenatal development. Other consequences as orthopedic abnormalities, bladder, and bowel dysfunction influence quality of life. Surgical therapy is often the only possibility to preserve existing function of neural tissue, allows its further development and prevents complications. In this chapter surgical techniques with aim to restore spinal cord and nerve roots anatomy, preservation of its function and defect closures are presented. Also, treatment of possible comorbidities and complications is discussed. Spina bifida management requires multi-speciality cooperation and care to monitor, prevent and treat various potential complication that can negatively influence quality of life and even survival. Prenatal diagnosis is based on maternal screening of serum alpha fetoprotein (AFP) levels and prenatal ultrasonography examination. As the suspicion of neural tube defect arises, an amniocentesis is recommended to complete a genetic analysis and obtain amniotic fluid for more precise AFP and acetylcholinesterase examination. Some types of neural tube defects are diagnosed after delivery, some are symptomatic until adulthood and some are diagnosed incidentally. Each of them requires specific management, based on underlying pathology.
Part of the book: Spina Bifida and Craniosynostosis