Neural Tube Defects, Spina Bifida, and Spinal Dysraphism

2011 ◽  
pp. 43-64
Author(s):  
H. Kerr Graham ◽  
Klaus Parsch
Keyword(s):  
Spina Bifida ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Spinal Dysraphism

Spina Bifida and Related Conditions

2017 ◽  
Author(s):  
Stephen L. Kinsman
Keyword(s):  
Spinal Cord ◽  
Spina Bifida ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Spinal Dysraphism ◽  
Gene Interactions ◽  
Tethered Spinal Cord ◽  
Spinal Lesion ◽  
Gene Environment ◽  
Spina Bifida Aperta

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.

Neural Tube Defects

2018 ◽  
Author(s):  
Jimmy Hoang ◽  
Samuel David Yanofsky
Keyword(s):  
Spina Bifida ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Congenital Abnormalities ◽  
Spinal Dysraphism ◽  
Neural Tube Closure ◽  
Increased Risk ◽  
Spina Bifida Cystica ◽  
The Brain ◽  
Is Failure

Neural tube defects (NTDs) are congenital abnormalities that arise from the neural tube failing to close. These defects can affect the brain, spine, or spinal cord and generally happen within the first month of pregnancy. Cranial dysraphism is failure of cranial neural tube closure and includes anencephaly and encephalocele. Spinal dysraphism is failure of caudal neuropore closure and includes spina bifida cystica and occulta. Myelomeningocele is a type of spina bifida cystica where the membranous sac containing neural tissue protrudes through an opening in the back. It is the most common NTD and considered a surgical emergency due to the increased risk for infection, further neurologic damage, and dehydration. Advancements in medicine have allowed for the possibility of early diagnosis and even in utero surgical intervention. This chapter focuses more exclusively on the approach and management of myelomeningocele.

scholarly journals Fetal Pathology of Neural Tube Defects – An Overview of 68 Cases

2017 ◽  
Vol 77 (05) ◽  
pp. 495-507 ◽  
Author(s):  
Katharina Schoner ◽  
Roland Axt-Fliedner ◽  
Rainer Bald ◽  
Barbara Fritz ◽  
Juergen Kohlhase ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Spina Bifida ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Spinal Dysraphism ◽  
Mendelian Inheritance ◽  
Sex Distribution ◽  
Risk Of Recurrence ◽  
Empirical Risk ◽  
Fetal Pathology

Abstract Introduction The prevalence of neural tube defects worldwide is 1 – 2 per 1000 neonates. Neural tube defects result from a disturbance of neurulation in the 3rd or 4th week of development and thus represent the earliest manifestation of organ malformation. Neural tube defects (NTD) are classified into cranial dysraphism leading to anencephaly or meningoencephalocele and spinal dysraphism with or without meningomyelocele. In isolated form they have multifactorial causes, and the empirical risk of recurrence in Central Europe is 2%. As associated malformations they tend to occur sporadically, and in monogenic syndromes they follow Mendelian inheritance patterns with a high risk of recurrence. Patients Autopsies were performed on 68 fetuses following a prenatal diagnosis of NTD and induced abortion. Results The incidence of NTDs in our autopsied fetuses was 8% and 11% in fetuses with malformations. The percentage of fetuses with anencephaly, encephalocele or spina bifida was 24, 18, and 60%*, respectively. Analysis of the sex distribution showed a female preponderance in cranial dysraphisms but the sex distribution of spina bifida cases was equal. The extent and localization of NTDs varied, with lumbosacral cases clearly predominating. The proportion of isolated, associated and syndromic neural tube defects was 56, 23.5 and 20.6% respectively. In the majority of syndromes, the neural tube defect represented a not previously observed syndromic feature. Conclusion The high proportion of NTDs with monogenic background underlines the importance of a syndrome oriented fetal pathology. At the very least it requires a thourough photographic and radiographic documentation of the fetal phenotype to enable the genetic counsellor to identify a syndromic disorder. This is necessary to determine the risk of recurrence, arrange confirming mutation analyses and offer targeted prenatal diagnosis in subsequent pregnancies.

Detection of spina bifida in the first trimester of gestation in association with triploidy

2017 ◽  
Author(s):  
K.K. Otaryan , C.G. Gagaev
Keyword(s):  
Spina Bifida ◽  
Early Detection ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
First Trimester ◽  
Termination Of Pregnancy ◽  
Diagnostic Tools ◽  
Prenatal Detection ◽  
Post Abortion

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.

scholarly journals Mengenal Spina Bifida dan Pencegahannya

2021 ◽  
Vol 1 (12) ◽  
pp. 896-903
Author(s):  
Genta Faesal Atsani ◽  
Zanetha Mauly Ilawanda ◽  
Ilma Fahira Basyir
Keyword(s):  
Spina Bifida ◽  
Birth Defects ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Congenital Abnormality ◽  
Congenital Abnormalities ◽  
Folic Acid Supplementation ◽  
Online Portal ◽  
The Brain ◽  
Developing Spinal Cord

Neural tube defects (NTD) are one of the birth defects or congenital abnormalities that occur in the brain and spine, and commonly find in newborns worldwide. Anencephaly and spina bifida are the two prevalent forms of NTD. The incidence of spina bifida happen on average 1 in 1000 cases of birth worldwide and there are 140,000 cases per year worldwide. Source searches were carried out on the online portal of journal publications as many as 20 sources from MedScape, Google Scholar and the Nation Center for Biotechnology Information / NCBI with the keywords “Neural tube defects (NTD), prevention, and spina bifida”. Spina bifida is a congenital abnormality that occurs in the womb due to a failure of closing process the neural tube during the first few weeks of embryonic development which causes the spine not completely close around the developing spinal cord nerves. NTD can ensue multifactorial conditions such as genetic, environmental, and folate deficiency. The use of folic acid supplementation starting at least 3 months before pregnancy, those are 400 mcg (0.4 mg) per day and 800 mcg per day during pregnancy can reduce the risk of developing neural tube defects such as spina bifida. Generally, spina bifida is undertaking by surgery and the regulation of patients comorbid. Public can find out prevention to avoid or reduce the risk of spina bifida so that the incidence of spina bifida can decrease along with the increasing awareness of the community regarding this disease.

Concanavalin A binding of alpha-fetoprotein in amniotic fluid as an aid in the diagnosis of neural tube defects.

1981 ◽  
Vol 27 (10) ◽  
pp. 1658-1660 ◽  
Author(s):  
P K Buamah ◽  
P Taylor ◽  
A M Ward
Keyword(s):  
Spina Bifida ◽  
Amniotic Fluid ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Concanavalin A ◽  
Gestational Age ◽  
Alpha Fetoprotein ◽  
Normal Outcome ◽  
Fetal Malformations ◽  
Open Spina Bifida

Abstract Concanavalin A nonreactive alpha-fetoprotein was determined in samples of amniotic fluid from 16 abnormal pregnancies complicated by anencephaly (7), open spina bifida (6), intra-uterine death (1), anencephaly with exomphalos (1), or open spina bifida with exomphalos (1), and in amniotic fluid from 50 normal pregnancies with gestational age between 13 and 24 weeks. In all 16 cases with fetal malformations, the proportion of nonreactive alpha-fetoprotein was significantly decreased (median 5.3%) as compared with amniotic fluid from pregnancies with a normal outcome (median 39.7%). The results confirm that this measurement is useful in the diagnosis of neural tube defects, especially when the concentration of alpha-fetoprotein in amniotic fluid is normal or only slightly above normal and gestational age is uncertain.

scholarly journals Epidemiologic and genetic aspects of spina bifida and other neural tube defects

2010 ◽  
Vol 16 (1) ◽  
pp. 6-15 ◽  
Author(s):  
Kit Sing Au ◽  
Allison Ashley-Koch ◽  
Hope Northrup
Keyword(s):  
Spina Bifida ◽  
Neural Tube ◽  
Neural Tube Defects

scholarly journals Surgical Management of Spinal Dysraphism: Five -year Experience in a Central Hospital

2014 ◽  
Vol 34 (1) ◽  
pp. 34-38
Author(s):  
N Banskota ◽  
R Jha ◽  
N Khadka ◽  
GR Sharma ◽  
P Bista ◽  
...  
Keyword(s):  
Surgical Management ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Clinical Presentation ◽  
Spinal Dysraphism ◽  
Cell Mass ◽  
Sensory Loss ◽  
Fetal Life ◽  
Common Location ◽  
Lower Limb Paralysis

Introduction: Spinal dysraphism is a heterogeneous group of congenital spinal anomalies resulting from defective closure of the neural tube early in fetal life and anomalous development of the caudal cell mass. Meningomyelocele is common among Neural tube defects. Patients with myelomeningocele present with a spectrum of impairments, including primary functional deficits like are lower limb paralysis, sensory loss, bladderbowel dysfunction and cognitive dysfunction. Medical, surgical management and rehabilitation have helped patients with neural tube defects to participate and be productive in mainstream society. The aims of this study were to review the clinical presentation, surgical management and their outcome in the patient with spinal dysraphism. Materials and Methods: This is a retrospective study of Forty-one cases of spinal dysraphism managed during a period of five years from January 2008 to December 2012 in Department of Neurosurgery, National Academy of Medical Sciences (NAMS), Bir Hospital. Demographic profiles, clinical presentation of patients with spinal dysraphism, associated hydocephalus, surgical management and outcome were studied. Results: Out of total 41 cases studied, male patients outnumbered female with 58.5% to 41.5%. Age ranged from 5 days to 29 years and mean age was 2.71 years whereas. Lump (97%) and paraparesis (88%) were frequent mode of presentation. Lumbar lesion (65%) was commonest followed by lumbosacral (29%). Hydrocephalus was present in 51% of cases and in 24% cases developed hydrocephalus later after repair. Total 75.6% of cases were treated with VP shunt. Conclusion: Spinal dysraphism is debilitating entity and management is challenging. Lump on back and weakness of limb are major factor for children and their parents seek medical service. Lesion in low back (lumbar and lumbosacral) were most common location. Besides repair, majority of them needed CSF diversion surgery for hydocephalus. Aim of surgical management was to prevent further deterioration, control of hydrocephalus or leak. DOI: http://dx.doi.org/10.3126/jnps.v34i1.9378 J Nepal Paediatr Soc 2014;34(1):34-38

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