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.

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.

scholarly journals Neural Tube Defects: The Experience of the Registry of Congenital Malformations of Alsace, France, 1995-2009

2014 ◽  
Vol 37 (1) ◽  
pp. 6-17 ◽  
Author(s):  
Dana Timbolschi ◽  
Elise Schaefer ◽  
Bondo Monga ◽  
Delphine Fattori ◽  
Béatrice Dott ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Spina Bifida ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Congenital Malformations ◽  
Epidemiological Data ◽  
Population Based ◽  
Folic Acid Supplementation ◽  
Total Prevalence ◽  
Global Rate

Context and Objective: Considering the lack of accurate and up-to-date information available about neural tube defects (NTDs) in France, the purpose of this study was to review clinical and epidemiological data of NTDs and to evaluate the current efficiency of prenatal diagnosis in Alsace (northeastern France). Methods: A population-based retrospective study was performed from data of the Registry of Congenital Malformations of Alsace between 1995 and 2009. Data were analyzed as a whole and according to the anatomical type of the malformation (anencephaly, cephalocele and spina bifida). Statistical analyses were carried out using the Statistical Package for the Social Sciences. Results: 272 NTDs were recorded divided in 113 cases of anencephaly (42%), 35 cases of cephalocele (13%) and 124 cases of spina bifida (45%). The total prevalence at birth of 14/10,000 (95% CI 13-16) was stable throughout the reporting period. A chromosome abnormality was identified in 27 cases (12% of all karyotyped cases). NTDs were prenatally diagnosed by ultrasound in 88% of the cases. The mean age upon prenatal diagnosis slightly declined during the 15-year period, significantly for spina bifida only. The global rate of terminations of pregnancy following prenatal diagnosis was 97% (230/238). Conclusion: This work constitutes a unique population-based study providing accurate and specific up-to-date data from a unique center over a longer period (1995-2009). The most important information concerns the high and stable prevalence, which calls into question the efficiency of the primary prevention by folic acid supplementation and the efficiency of prenatal diagnosis.

scholarly journals Early Prenatal Diagnosis And Prevention Of Birth Damage Development In Children (Spina Bifida - A Defect In The Development Of The Nervous System)

2021 ◽  
Vol 03 (04) ◽  
pp. 117-126
Author(s):  
Makhbuba Mamatkulova ◽  
Keyword(s):  
Nervous System ◽  
Prenatal Diagnosis ◽  
Spina Bifida ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Spinal Canal ◽  
Damage Development

Spina bifida-is a defect in the development of the neural tube, which is a splittinq of the spinal canal and is one of the most common conqenital malformation of the fetus. Worldwidt, the incidence of fetal neural tube defects ranqes from 0,17 to 6,39 per 1000 newborns. This article describes methods for early diaqnosis of fetal neural tube malformation in earle preqnancy and the results of studies of preqnant woman at different staqes of preqnancy.

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.

Prenatal Diagnosis and Patient Preferences in Patients with Neural Tube Defects around the Advent of Fetal Surgery in Belgium and Holland

2014 ◽  
Vol 37 (3) ◽  
pp. 226-234 ◽  
Author(s):  
Céline Ovaere ◽  
Alex Eggink ◽  
Jute Richter ◽  
Titia E. Cohen-Overbeek ◽  
Frank Van Calenbergh ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Spina Bifida ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Fetal Surgery ◽  
Training Material ◽  
Spinal Lesions ◽  
Spina Bifida Aperta ◽  
Prenatal Management ◽  
Open Spina Bifida

Introduction: We review the characteristics and prenatal choices of patients recently evaluated for neural tube defects (NTD) at two tertiary units. The prenatal diagnosis of NTD allows parents to consider all prenatal options. In selected cases of spina bifida aperta this also includes fetal surgery, which we started offering after combined ‘in-house' and ‘exported' training. Material and Methods: This is a retrospective review of prospectively collected data on NTD diagnosed over the last 8 years and recent fetal surgery referrals. Results: A total of 167 patients were referred for assessment at a median of 19 weeks. Cranial lesions were diagnosed significantly earlier than spinal lesions. Of the open spinal lesions, 77% were isolated. Of these, 22% were managed expectantly and 1 (1%) had fetal surgery. There was no correlation between parental decisions on prenatal management with disease-specific severity markers. We had 14 fetal surgery referrals, all but 1 from beyond our typical referral area; 6 of the assessed patients were operated on, 4 were expectantly managed and 4 requested termination of pregnancy (TOP). These pregnancy outcomes were in the expected range. Discussion: Open spina bifida is mainly diagnosed in the second trimester and 76% of subjects request TOP, irrespective of the severity indicators. The number of local patients considering fetal surgery is low.

scholarly journals Neurone Specific Enolase in Amniotic Fluid: A Potential Marker of Anencephaly

1988 ◽  
Vol 25 (1) ◽  
pp. 85-88 ◽  
Author(s):  
K Spencer ◽  
P Carpenter
Keyword(s):  
Prenatal Diagnosis ◽  
Spina Bifida ◽  
Amniotic Fluid ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Normal Values ◽  
Potential Marker ◽  
Neuronal Proteins ◽  
Non Gaussian ◽  
Open Spina Bifida

Normal values for neurone specific enolase in amniotic fluid have been found to follow a non gaussian distribution with a 1–99 centile range of 1·10–4·32 μg/L. Neurone specific enolase levels have been shown to be raised in the amniotic fluid of pregnancies complicated by anencephaly, although not those complicated by open spina bifida. Neurone specific enolase measured by radioimmunoassay is capable of totally discriminating between normal pregnancies and those complicated by anencephaly. The study demonstrates the possible value of investigating other neuronal proteins which may find value as adjuncts to amniotic fluid Alpha fetoprotein levels in the prenatal diagnosis of Neural Tube Defects.

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.

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