The prevalence and pattern of neural tube defects and other major congenital malformations of nervous system detected at birth in Barbados

2016 ◽  
Vol 65 ◽  
pp. S20-S24
Author(s):  
Keerti Singh ◽  
W.M.S. Johnson ◽  
R. Archana ◽  
Alok Kumar
Keyword(s):  
Nervous System ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Congenital Malformations ◽  
Major Congenital Malformations

Neural Tube Defects

1979 ◽  
Vol 1 (6) ◽  
pp. 187-190
Author(s):  
Gerald S. Golden
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Good Deal ◽  
The United States ◽  
Incidence Rates ◽  
Number Of Factors ◽  
The Central Nervous System ◽  
Major Congenital Malformations

The term "neural tube defects" refers to a biologically interrelated series of malformations of the central nervous system and overlying tissues. There is an abnormality in morphogenesis of the brain and/or spinal cord, associated with varying degrees of absence or malformation of the meninges, bone, muscle, and skin. In addition to morphologic similarities, these lesions are related epidemiologically and probably genetically. The terminology is complex, but the lesions can be placed in a simple framework. The Table outlines the most common defects. The malformation occurs early in embryonic development, since the gross structure of the central nervous system has been completed by the 26th gestational day. There are numerous theories of pathogenesis and there is a good deal of subprimate teratologic research, but no single etiologic hypothesis is widely accepted or rigorously proven. Despite this, clinical risk factors have been clearly defined and empiric techniques for prenatal diagnosis have been developed. FREQUENCY AND EPIDEMIOLOGY Neural tube defects represent one of the most common groups of major congenital malformations. Each year approximately 6,000 to 8,000 infants are born with these conditions in the United States. Incidence rates vary among different groups from 0.6 to 4.1/1,000 total births for anencephaly. The risk is not uniformly spread over the entire population; a number of factors are related to initial occurrence and recurrence.

Paediatric neuroscience care

2020 ◽  
pp. 467-492
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Spinal Disorders ◽  
Adult Services ◽  
Central Nervous System Tumours ◽  
Basic Understanding ◽  
Craniofacial Syndromes

Paediatric neurology services care for children aged 0–16 years. Many of these children suffer genetic and complex neurological problems and frequently require life-long support. Hydrocephalus and central nervous system tumours are commonly presenting disorders; however, craniofacial syndromes, spinal disorders, spinal neural tube defects, epilepsy, and trauma including non-accidental injuries are frequently managed. Paediatric nurses specialize in the care of these children and support of their families but as they grow up and transition into adult services, it is the responsibility of general nurses to have a basic understanding of some of their conditions so they can maintain and continue their care.

scholarly journals Maternal folate, vitamin B12 and homocysteine levels in pregnancies affected by congenital malformations other than neural tube defects

2011 ◽  
Vol 91 (7) ◽  
pp. 610-615 ◽  
Author(s):  
Marie Sutton ◽  
James L. Mills ◽  
Anne M. Molloy ◽  
James F. Troendle ◽  
Lawrence C. Brody ◽  
...  
Keyword(s):  
Vitamin B12 ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Congenital Malformations

scholarly journals Bilobed Thoracic Meningomyelocele: A Case Report with Literature Review

2019 ◽  
Vol 16 (1) ◽  
pp. 39-41
Author(s):  
Dipendra Shrestha ◽  
Binod Rajbhandari ◽  
Sushil Krishna Shilpakar
Keyword(s):  
Spinal Cord ◽  
Case Report ◽  
Literature Review ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Congenital Malformations ◽  
Rare Case ◽  
Brain And Spinal Cord ◽  
The Brain

Neural tube defects (NTDs) arethe most common congenital malformations affecting the brain and spinal cord. Furthermore, meningomyelocele (MMC) is said to be one of the commonest NTDs. Multiple MMC is uncommon and bilobed sac is even rarer, comparatively. In literature, only few such cases have been reported. Here, we present a rare case of bilobed thoracic MMC operated successfully in our department.

THE PRENATAL MANAGEMENT OF NEURAL TUBE DEFECTS: TIME FOR A RE-APPRAISAL

2012 ◽  
Vol 23 (3-4) ◽  
pp. 158-186 ◽  
Author(s):  
MASAYUKI ENDO ◽  
TIM VAN MIEGHEM ◽  
ELISENDA EIXARCH ◽  
PAOLO DE COPPI ◽  
GUNNAR NAULAERS ◽  
...  
Keyword(s):  
Nervous System ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Animal Experiments ◽  
Surgical Techniques ◽  
Fetal Surgery ◽  
High Volume ◽  
Research Programmes ◽  
Fetal Repair ◽  
Upper Level

The prevalence of neural tube defects (NTD) in Europe is around 9 per 10,000 births making it one of the most frequent congential anomalies affecting the central nervous system. NTD encompass all anomalies that are secondary to failure of closure of the neural tube. In this review, we will first summarize the embryology and some epidemiologic aspects related to NTDs. The review focuses on myelomeningocele (MMC), which is the most common distal closure defect. We will describe the secondary pathologic changes in the central and peripheral nervous system that appear later on in pregnancy and contribute to the condition's morbidity. The postnatal impact of MMC mainly depends on the upper level of the lesion. In Europe, the vast majority of parents with a fetus with prenatally diagnosed NTDs, including MMC, opt for termination of pregnancy, as they are apparently perceived as very debilitating conditions. Animal experiments have shown that prenatal surgery can reverse this sequence. This paved the way for clinical fetal surgery resulting in an apparent improvement in outcome. The results of a recent randomized trial confirmed better outcomes after fetal repair compared to postnatal repair; with follow up for 30 months. This should prompt fetal medicine specialists to reconsider their position towards this condition as well as its prenatal repair. The fetal surgery centre in Leuven did not have a clinical programme for fetal NTD repair until the publication of the MOMS trial. In order to offer this procedure safely and effectively, we allied to a high volume centre willing to share its expertise and assist us in the first procedures. Given the maternal side effects of current open fetal surgical techniques, we have intensified our research programmes to explore minimally invasive alternatives. Below we will describe how we are implementing this.

scholarly journals Prevalence and time trends of neural tube defects in regions of the Russian Federation

2020 ◽  
Vol 64 (6) ◽  
pp. 30-38
Author(s):  
N. S. Demikova ◽  
M. A. Podolnaya ◽  
A. S. Lapina
Keyword(s):  
Spina Bifida ◽  
Russian Federation ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Congenital Malformations ◽  
Prevention Measures ◽  
Live Births ◽  
Total Prevalence ◽  
The Russian Federation ◽  
High Level

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.

scholarly journals Histone methylations in the developing central nervous system and in neural tube defects

Neuroforum ◽  
2018 ◽  
Vol 24 (2) ◽  
pp. A85-A94
Author(s):  
Alejandro Villarreal ◽  
Henriette Franz ◽  
Tanja Vogel
Keyword(s):  
Gene Expression ◽  
Central Nervous System ◽  
Nervous System ◽  
Cell Differentiation ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
System Development ◽  
Epigenetic Modification ◽  
Nervous System Development ◽  
Central Nervous System Development

Abstract Understanding central nervous system genesis is of crucial relevance to decode different human diseases such as microcephaly or neural tube defects, which arise from incorrect developmental processes. Epigenetic mechanisms regulate gene expression in a spatio-temporal manner and are implicated in diverse cellular actions one of which is cell differentiation. Therefore, the study of these mechanisms is of great relevance in the context of development and disease. In this article, we will review histone methylations as epigenetic modification and how they impact on gene expression and cell differentiation in central nervous system development and neural differentiation. Further, we will discuss an emerging link between histone methylation in the etiology of neural tube defects. We will specifically highlight the role of the disruptor of telomeric silencing like 1 (DOT1L) and histone H3 lysine 79 methylation (H3K79me), which is an unusual histone modification with implication for proper central nervous system development.

scholarly journals Evaluation of Fetal Central Nervous System Anomalies; Perinatology Council Data of a Reference Center

2020 ◽  
Author(s):  
Meltem Koyuncu Arslan ◽  
Melek Akar ◽  
Halil Gürsoy Pala ◽  
Cüneyt Eftal Taner ◽  
Mehmet Yekta Öncel
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
High Risk ◽  
Pregnant Women ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Gestational Week ◽  
The Mean ◽  
Cns Anomalies

INTRODUCTION: Central nervous system (CNS) anomalies are the second most common congenital malformations detected during antenatal period. Rates of prenatal diagnosis are aroung 96% in anencephaly, but drops down to approximately 14 % in migration anomalies.We aimed to determine the frequency and features of CNS anomalies evaluated in the perinatology council of our hospital where high-risk pregnancies were discussed and also to emphasize the importance of antenatal diagnosis. METHODS: Pregnant women, with a CNS anomaly detected in their fetus, who were evaluated between January 2019-December 2019 in the perinatology council of Tepecik Training and Research Hospital were included in the study. Retrospectively, the records of the cases were examined, prenatal, and maternal risk factors at the time of council session, the council decision and the results were recorded. Statistical analyzes were done using SPSS 20.0 program. RESULTS: Data of 1272 pregnant women were evaluated in the study, and 261 cases (20.5%) with CNS anomalies were detected. A total of 129 pregnant women were excluded from the study because follow-up of these patients were not realized in our center or they didn’t give birth yet.. Totally, 132 pregnant women were included in the study. The mean maternal age was 26.99±6.50 (14-42) years, the mean gestational age was 22.63±7.08 (10.4-38.6) weeks. Most common CNS anomalies detected were neural tube defects (n=54; 40%), hydrocephalus/ventriculomegaly (n=36; 27%), migration defects (n=21; 15%) and cerebellar malformations (n=9; 6%). Termination of pregnancy was decided for 29.8% (n=78) of pregnant women, but realized only for 62 pregnancies. Among pregnancies which were decided to be continued due to the fact that gestational week was 22 weeks or more (n=51), had fetuses with neural tube defects (n=25; 50%) and hydrocephalus/ventriculomegaly (n=36; 27%) with poor prognosis. DISCUSSION AND CONCLUSION: As the anomalies with high morbidity and mortality were referred to our hospital after the 22nd gestational week, termination option could not be offered to these pregnancies. High-risk pregnancies should be directed to perinatology centers in the early period so that this option can be presented to the family, appropriate follow-up and treatment of life-compatible ones.

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