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 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 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.

Congenital Anomalies in Twins in Northern Ireland. II: Neural Tube Defects, 1974-1979

1989 ◽  
Vol 38 (1-2) ◽  
pp. 17-25 ◽  
Author(s):  
J. Little ◽  
N.C. Nevin
Keyword(s):  
Northern Ireland ◽  
Spina Bifida ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Congenital Anomalies ◽  
Large Population ◽  
Great Majority ◽  
Population Based ◽  
Population Based Study ◽  
Male Preponderance

AbstractIn a large population-based study in Northern Ireland during the period 1974-1979, the rate of anencephalus in twins (9.1/10,000) was found to be less than that in singletons (24.3/10,000). This finding is in contrast with most other studies and the possibility of underascertainment of twin cases is considered, but it is concluded that chance is the likeliest explanation. The rate of spina bifida in twins (36.4/10,000) was similar to that in singletons (31.9/10,000). All of the twins with anencephalus were female and from pairs of like sex. Rates of spina bifida in twins from pairs of the two sex types were similar but, unusually, there was a male preponderance. As in previous studies, the great majority of twins with NTDs had unaffected cotwins.

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.

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 The prevention of neural tube defects by folic acid supplementation

Curationis ◽  
1993 ◽  
Vol 16 (4) ◽  
Author(s):  
H. W. Hitzeroth
Keyword(s):  
South Africa ◽  
Folic Acid ◽  
Spina Bifida ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Neural Tube Defect ◽  
Rural Areas ◽  
Congenital Abnormalities ◽  
Folic Acid Supplementation ◽  
Acid Supplementation

Neural tube defects, in particular spina bifida and anencephaly, are serious and relatively common congenital abnormalities worldwide. They also occur in South Africa and affect all population groups to varying degrees. The overall incidence in South Africa is approximately 1-2 per 1000 newborns. Higher incidences, up to 6 per 1000 newborns have been recorded in certain parts, especially in some rural areas of the country. In total as many as 1500 newborns could be affected by a neural tube defect each year. The precise aetiology of neural tube defects is still unknown.

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.

Impact of Prenatal Diagnosis on the Birth Prevalence of Neural Tube Defects, Atlanta, 1990-4991

PEDIATRICS ◽  
1995 ◽  
Vol 96 (5) ◽  
pp. 880-883
Author(s):  
Helen E. Roberts ◽  
Cynthia A. Moore ◽  
Janet D. Cragan ◽  
Paul M. Fernhoff ◽  
Muin J. Khoury
Keyword(s):  
Prenatal Diagnosis ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Fetal Death ◽  
Population Based ◽  
Congenital Defects ◽  
Substantial Impact ◽  
Birth Prevalence ◽  
Live Births ◽  
The Impact

Objective. To determine the impact of prenatal diagnosis on the birth prevalence of neural tube defects (NTDs) in Atlanta during 1990 through 1991. Methods. Live-born and stillborn infants with NTDs who were at least 20 weeks' gestation were ascertained by the Metropolitan Atlanta Congenital Defects Program (MACDP), a population-based birth defects registry. Prenatally diagnosed NTD-affected pregnancies were ascertained from the four perinatal centers and the three genetic laboratories operating in Atlanta during 1990 through 1991. Fetal death certificates were also reviewed for potential cases. Results. During 1990 through 1991, MACDP ascertained 59 NTD cases, for a birth prevalence of 0.77/1000 live births. During this period, an additional 28 NTD-affected pregnancies were detected prenatally and terminated before 20 weeks' gestation. The adjusted NTD rate during 1990 through 1991, which includes prenatally diagnosed cases, was 1.13/1000 live births. Conclusions. Prenatal diagnosis is making a substantial impact on the birth prevalence of NTDs in Atlanta. However, since NTD rates in Atlanta were 2 to 2.5 per 1000 live births in 1970, prenatal diagnosis and termination of pregnancy does not completely account for the declining rate of NTDs.

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.

scholarly journals Open Neural Tube Defects: A Case Presentation of 30-year-old Secundigravida with Spina Bifida of the Fetus

2021 ◽  
Vol 4 (1) ◽  
pp. 411-417
Author(s):  
Anzhel S ◽  
Kovachev E ◽  
Tonchev AB ◽  
Georgiev B ◽  
Yaneva G ◽  
...  
Keyword(s):  
Cerebrospinal Fluid ◽  
Folic Acid ◽  
Spina Bifida ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
First Trimester ◽  
Folic Acid Supplementation ◽  
Patient Counseling ◽  
Case Presentation ◽  
Spina Bifida Aperta

Spina bifida is a neural tube defect that occurs in about 1 in 1,500 pregnancies. Open spinal defects are associated with paralysis, incontinence and hydrocephalus requiring postnatal shunting of the cerebrospinal fluid. Neural tube defects are preventable through preconceptional folic acid supplementation. Occasionally, the diagnosis is made during routine anomaly scan at 18-20 weeks of gestation, as the earliest signs of the anomaly can be seen at the end of first trimester. The information provided by ultrasound plays a crucial role in patient counseling and pregnancy management. The authors report a case of prenatal diagnosis of spina bifida aperta with focus on detailed ultrasound presentation and difficulties in consulting in relation to the prognosis for the newborns.

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