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.

Fetal Repair of Open Neural Tube Defects: Ethical, Legal, and Social Issues

2019 ◽  
Vol 28 (3) ◽  
pp. 476-487 ◽  
Author(s):  
JULIA A.E. RADIC ◽  
JUDY ILLES ◽  
PATRICK J. MCDONALD
Keyword(s):  
Neural Tube ◽  
Neural Tube Defects ◽  
Ethical Issues ◽  
Social Issues ◽  
Controlled Trial ◽  
Fetal Surgery ◽  
Close Monitoring ◽  
Neurologic Outcomes ◽  
Increased Risk ◽  
Fetal Repair

Abstract:Open neural tube defects or myelomeningoceles are a common congenital condition caused by failure of closure of the neural tube early in gestation, leading to a number of neurologic sequelae including paralysis, hindbrain herniation, hydrocephalus and neurogenic bowel and bladder dysfunction. Traditionally, the condition was treated by closure of the defect postnatally but a recently completed randomized controlled trial of prenatal versus postnatal closure demonstrated improved neurologic outcomes in the prenatal closure group. Fetal surgery, or more precisely maternal-fetal surgery, raises a number of ethical issues that we address including who the patient is, informed consent, surgical innovation and equipoise as well maternal assumption of risk. As the procedure becomes more widely adopted into practice, we suggest close monitoring of new fetal surgery centers, in order to ensure that the positive results of the trial are maintained without increased risk to both the mother and fetus.

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.

Fetal surgery for neural tube defects

2012 ◽  
Vol 98 (3) ◽  
pp. F276-F278
Author(s):  
Nickie Niforatos ◽  
Adre J du Plessis
Keyword(s):  
Neural Tube ◽  
Neural Tube Defects ◽  
Fetal Surgery

scholarly journals Periconceptional Folate Deficiency and Implications in Neural Tube Defects

2012 ◽  
Vol 2012 ◽  
pp. 1-9 ◽  
Author(s):  
J. Safi ◽  
L. Joyeux ◽  
G. E. Chalouhi
Keyword(s):  
Neural Tube ◽  
Neural Tube Defects ◽  
Best Practice ◽  
Dietary Habits ◽  
Fetal Surgery ◽  
Folate Deficiency ◽  
Folic Acid Supplementation ◽  
Reproductive Age ◽  
Nutritional Deficiencies ◽  
Preventive Public Health

Nutritional deficiencies are preventable etiological and epigenetic factors causing congenital abnormalities, first cause of infant mortality. Folate deficiency has a well-established teratogenic effect, leading to an increasing risk of neural tube defects. This paper highlights the most recent medical literature about folate deficiency, be it maternal or paternal. It then focuses on associated deficiencies as nutritional deficiencies are multiple and interrelated. Observational and interventional studies have all been consistent with a 50–70% protective effect of adequate women consumption of folates on neural tube defects. Since strategies to modify women’s dietary habits and vitamin use have achieved little progress, scientific as well as political effort is mandatory in order to implement global preventive public health strategies aimed at improving the alimentation of women in reproductive age, especially folic acid supplementation. Even with the recent breakthrough of fetal surgery for myelomeningocele, the emphasis should still be on prevention as the best practice rather than treatment of neural tube defects.

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.

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