scholarly journals Surgical Treatment of Neural Tube Defects

2021 ◽  
Author(s):  
Juraj Šutovský

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.

Author(s):  
Stephen L. Kinsman

The term “spinal dysraphism” encompasses the broadest array of the conditions known as the neural tube defects. The open neural tube defects (spina bifida aperta and cystica) include both disorders of primary and/or secondary neuralation and are best defined as myelomeningocele complex (MMC) due to their protean nervous system manifestations beyond the spinal lesion. Closed spinal dysraphisms (so-called spina bifida occulta) include lipomatous lesions, forms of tethered spinal cord, sinus tracts, and forms of split spinal cord (diastematomyelia). Both genetic and environmental etiologies have been identified. Gene-environment and gene-gene interactions are also important in the pathobiology of these conditions.


Author(s):  
N. S. Demikova ◽  
M. A. Podolnaya ◽  
A. S. Lapina

Neural tube defects – a group of severe congenital malformations with a high level of mortality, childhood disability. The average prevalence of these defects is approximately 1 per 1000 births. The main measures to reduce the prevalence of neural tube defects are primary and secondary prevention measures, the effectiveness of which can be determined by congenital malformations monitoring.Research purpose. To determine the prevalence of neural tube defects, as well as trends in their prevalence for 2011 to 2017 in the Russian Federation according to monitoring of congenital malformations.Results. The total prevalence of anencephaly among newborns and fetuses was 4.63 (95% confidence interval - CI 4.40–4.88) per 10000 births, spina bifida – 6.18 (95% CI 5.91–6.46) and encephalocele 1.34 (95% CI 1.21–1.47). At the same time, the prevalence of anencephaly only among live births was 0.11 (95% CI 0.08–0.15) per 10000, spina bifida – 2.24 (95% CI 2.08–2.41) and encephalocele – 0 25 (95% CI 0.20–0.31). The decrease in prevalence of birth defects among live births compared with the total prevalence is provided by a high level of detection of these defects by ultrasound examination during pregnancy with the subsequent elimination of the affected fetuses. The maximum proportion of eliminated fetuses is observed for anencephaly (90.5%), for encephalocele the proportion of aborted fetuses is 77.4% and for spina bifida – 59.3%. Over the 7-year period, the multidirectional prevalence trends were noted: the increasing trend for total prevalence of neural tube defects and the decreasing trend for prevalence of these defects among live-born children.Conclusion. Estimates of the prevalence of neural tube defects in Russian Federation regions are obtained. The dynamics of the studied defects prevalence indicates that the decreasing of neural tube defects prevalence among live births is associated with secondary prevention measures.


2020 ◽  
Author(s):  
Jorge Román Corona‐Rivera ◽  
Sandra Olvera‐Molina ◽  
J. Jesús Pérez‐Molina ◽  
Cristian Irela Aranda‐Sánchez ◽  
Lucina Bobadilla‐Morales ◽  
...  

Neurosurgery ◽  
1986 ◽  
Vol 19 (6) ◽  
pp. 962-966 ◽  
Author(s):  
Jocelyn B. Gregorios ◽  
Barth Green ◽  
Larry Page ◽  
Sharon Thomsen ◽  
Hector Monforte

Abstract Two primary lumbosacral tumors arising at the site of neural tube defects are presented. One was a teratoma diagnosed in an infant with myelomeningocele. The other was an ependymoma that developed in an adult with meningocele. It is postulated that these cases represent a neoplastic transformation of heterotopic primordial elements that have been incorporated within the defect, supporting the view that overgrowth of neural tissue may be the result rather than the cause of neural tube deformity. Such rare occurrences may be due to interaction between intrauterine teratogenic factors and familial predisposition in affected patients.


2021 ◽  
Author(s):  
Mohammad Hossein Khosravi ◽  
Bita Najafian

The prevalence of Congenital central nervous system (CNS) anomalies, including those of the brain and spinal cord, is 3 to 6% in stillbirth and 0.14 to 0.16% in live births. Holoprosencephaly, spina bifida, anencephaly, and encephalocele are major neural tube defects (NTD) encountered in clinical practice. Proper management and diagnosis of these conditions mandate a good understanding of their etiology and classification. Research is being conducted to investigate the etiopathogenesis and treatment of these anomalies. In this chapter, we have reviewed the clinical and pathological aspects of the major NTDs and the latest principles of their management.


Author(s):  
Nathan A. Shlobin ◽  
Melissa A. LoPresti ◽  
Rebecca Y. Du ◽  
Sandi Lam

OBJECTIVENeural tube defects (NTDs) are common congenital neurological defects, resulting in mortality, morbidity, and impaired quality of life for patients and caregivers. While public health interventions that increase folate consumption among women who are or plan to become pregnant are shown to reduce folate-sensitive NTDs, public health policy reflecting the scientific evidence lags behind. The authors aimed to identify the types of policies applied, associated outcomes, and impact of folate fortification and supplementation on NTDs worldwide. By identifying effective legislation, the authors aim to focus advocacy efforts to more broadly effect change, reducing the burden of NTDs in neurosurgery.METHODSA systematic review was conducted exploring folate fortification and supplementation policies using the PubMed and Scopus databases. Titles and abstracts from articles identified were read and selected for full-text review. Studies meeting inclusion criteria were reviewed in full and analyzed for study design, aim, population, interventions, and outcomes.RESULTSOf 1637 resultant articles, 54 were included. Mandatory folate fortification was effective at reducing folate-sensitive NTDs. Mandatory fortification also decreased hospitalization rates and deaths after discharge and increased 1st-year survival for infants with NTDs. Recommended folate supplementation also resulted in decreased NTDs; however, issues with compliance and adherence were a concern and impacted effectiveness. Folate fortification and/or supplementation resulted in decreased NTD prevalence, although more change was attributed to fortification. Dual policies may hold the most promise. Furthermore, reductions in NTDs were associated with significant cost savings over time.CONCLUSIONSBoth mandatory folate fortification and recommended supplementation policies were found to effectively decrease folate-sensitive NTD rates when applied. A comprehensive approach incorporating mandatory folate fortification, appropriate folate supplementation, and improved infrastructure and access to prenatal care may lead to decreased NTDs worldwide. This approach should be context-specific, emphasize education, and account for regional access to healthcare and social determinants of health. With wide implications for NTDs, associated health outcomes, quality of life of patients and caregivers, and economic impacts, policy changes can drastically improve global NTD outcomes. As caretakers of children with NTDs, the authors as neurosurgeons advocate for a comprehensive policy, the engagement of stakeholders, and a broader global impact.


Author(s):  
K.K. Otaryan , C.G. Gagaev

The case of prenatal detection of spina bifida at 12+3 weeks of gestation is described. Termination of pregnancy was performed at 13+3 weeks. Post-abortion karyotyping revealed triploidy (69XXX). Diagnostic tools for early detection of neural tube defects in the 1st trimester of gestation and subsequent appropriate management of pregnancy are discussed.


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