Mengenal Spina Bifida dan Pencegahannya

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.

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Neural Tube Defects

10.1093/med/9780190685157.003.0025 ◽

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.

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The prevention of neural tube defects by folic acid supplementation

Curationis ◽

10.4102/curationis.v16i4.1419 ◽

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.

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Association of neural tube defects with congenital abnormalities of the urogenital system in a Chinese cohort

BMC Pediatrics ◽

10.1186/s12887-021-02492-8 ◽

2021 ◽

Vol 21 (1) ◽

Author(s):

Zhi-Hua Hong ◽

Dong-Hui Jin ◽

Xiao-Jian Yuan ◽

Yang Zhao ◽

Hou-Wei Lin ◽

...

Keyword(s):

Neural Tube ◽

Neural Tube Defects ◽

Congenital Abnormality ◽

Congenital Abnormalities ◽

Urogenital System ◽

Urinary System ◽

Intravenous Pyelography ◽

Abdominal Organs ◽

Chinese Cohort ◽

Urogenital Malformation

Abstract Background This study aimed to retrospectively analyze the correlation between congenital abnormality of the urogenital system and various factors in children with neural tube defects (NTDs). Methods A total of 190 children with congenital NTDs, who were admitted to a hospital from May 2013 to May 2018, were included into the present study. All admitted children with congenital NTDs were carried out routine abdominal B-ultrasound examinations to determine the malformations of the abdominal organs, including the urinary system. Children with a B-ultrasound result of suspected and unsure malformation underwent intravenous pyelography (IVP) and voiding cysto-urethrography (VCU), and this was further confirmed by the CT results. Results The incidence of urogenital malformation was 12.1% (23/190) in children with congenital NTDs. For the 23 children with urogenital malformations, most of these children had no definite urinary system symptoms, while some of these children had multiple incidences of urinary system infections. Conclusions Congenital NTDs are often combined with urogenital malformations, if not specifically searched these may be overlooked. The early detection of these malformations is beneficial to reduce the risk of operation and improve the prognosis.

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Spina Bifida: Pathogenesis, Mechanisms, and Genes in Mice and Humans

Scientifica ◽

10.1155/2017/5364827 ◽

2017 ◽

Vol 2017 ◽

pp. 1-29 ◽

Cited By ~ 7

Author(s):

Siti W. Mohd-Zin ◽

Ahmed I. Marwan ◽

Mohamad K. Abou Chaar ◽

Azlina Ahmad-Annuar ◽

Noraishah M. Abdul-Aziz

Keyword(s):

Central Nervous System ◽

Animal Model ◽

Spina Bifida ◽

Birth Defects ◽

Neural Tube ◽

Neural Tube Defects ◽

Congenital Heart ◽

Review Paper ◽

Heart Defects ◽

Central Nervous System Malformation

Spina bifida is among the phenotypes of the larger condition known as neural tube defects (NTDs). It is the most common central nervous system malformation compatible with life and the second leading cause of birth defects after congenital heart defects. In this review paper, we define spina bifida and discuss the phenotypes seen in humans as described by both surgeons and embryologists in order to compare and ultimately contrast it to the leading animal model, the mouse. Our understanding of spina bifida is currently limited to the observations we make in mouse models, which reflect complete or targeted knockouts of genes, which perturb the whole gene(s) without taking into account the issue of haploinsufficiency, which is most prominent in the human spina bifida condition. We thus conclude that the need to study spina bifida in all its forms, both aperta and occulta, is more indicative of the spina bifida in surviving humans and that the measure of deterioration arising from caudal neural tube defects, more commonly known as spina bifida, must be determined by the level of the lesion both in mouse and in man.

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

Fetal Diagnosis and Therapy ◽

10.1159/000362663 ◽

2014 ◽

Vol 37 (1) ◽

pp. 6-17 ◽

Cited By ~ 7

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.

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Evaluating an intervention for neural tube defects in coal mining cites in China: a temporal and spatial analysis

International Health ◽

10.1093/inthealth/ihaa035 ◽

2020 ◽

Author(s):

Ningxu Zhang ◽

Yilan Liao ◽

Zhoupeng Ren

Keyword(s):

Coal Mining ◽

Birth Defects ◽

Neural Tube ◽

Neural Tube Defects ◽

Coal Mines ◽

Intervention Strategy ◽

Folic Acid Supplementation ◽

Incidence Rates ◽

Shanxi Province ◽

The Government

Abstract Background Neural tube defects (NTDs) are congenital birth defects of the central nervous system that affect 0.5–2 per 1000 pregnancies worldwide. Therefore effective interventions for birth defects, especially NTDs, are very important. Methods Yuanping City is a coal mining city in Shanxi Province, China, with a high incidence of NTDs. This study evaluates the effects of NTD interventions in this city after adjusting for covariates that characterize the native environment. The number of NTD cases and births for the 18 towns in Yuanping City from 2007 to 2014 were included in the study. A shared-component zero-inflated Poisson regression was applied to analyse the temporal–spatial variance among the incidence rates of NTDs in Yuanping City before and after the interventions. Results The results showed that existing interventions to mitigate birth defects, such as folic acid supplementation, reduced the incidence of NTDs by 53.5% in coal mining areas in Yuanping City. However, the NTD risk in areas near coal mines, especially unrestored coal mines, was still high, even after the intervention. Conclusions The government should focus on health hazards related to mining and agricultural production and should provide education and resources to reduce environmental exposure. Reducing environmental risks should be regarded as an early intervention strategy to mitigate birth defects.

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The Prevalence of Neural Tube Defects in Sétif University Maternity Hospital, Algeria-3 Years Review (2004-2006)

Pteridines ◽

10.1515/pteridines.2008.19.1.12 ◽

2008 ◽

Vol 19 (1) ◽

pp. 12-18 ◽

Cited By ~ 5

Author(s):

Bakhouche Houcher ◽

Romyla Bourouba ◽

Farida Djabi ◽

Zahira Houcher

Keyword(s):

Public Health ◽

Folic Acid ◽

Spina Bifida ◽

Birth Defects ◽

Neural Tube ◽

Neural Tube Defects ◽

Public Health Problem ◽

Retrospective Chart Review ◽

High Rate ◽

Mortality And Morbidity

Abstract Neural tube defects (NTDs) including spina bifida, anencephaly and encephalocele are among the most common birth defects, with high associated mortality and morbidity. There are no data concerning the incidence, associated anomalies, treatment and outcome of NTDs in Algeria. The objective of this study is to analyse data on NTD cases from 2004-2006 at Sétif Hospital, a hospital with 8,000-10,000 deliveries annually. A retrospective chart review of patients with NTDs was performed, who were born at Sétif Hospital 2004-2006. During the 3 year period we examined, there were 215 patients with NTDs treated in the Sétif Hospital. The incidence of NTD is 7.5 per 1,000 births. The sex distribution was not equal among NTD cases, 126 (58.6%) females, 88 (40.9%) males and one (0.5%) unidentified sex. Among all NTD cases, there where 122 (56.7%) with spina bifida, 69 (32.1%) with anencephaly, 1 (0.5%) with encephalocele and 23 (10.7%) with anencephaly and spina bifida. Hundred and seventeen (54.4%) cases died in utero and 4 cases (1.9%) unknown. The rate of consanguinity among all NTD cases was 13% (28/215). The rate of affected newborns was highest in mothers aged 31-35 years (21.9%). The peak prevalence was in June (15.8%). A half of NTDs were spina bifida and there was a high rate of mortality. This study demonstrates that NTD represents a significant public health problem in Algeria. In Algeria there were no population-wide educational campaigns about folic acid or its association with the prevention of birth defects. Public health interventions aimed at increasing the periconceptional consumption of folic acid should be implemented or enhanced to reduce the incidence of NTDs in Algeria.

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Gene Environment Interactions in the Etiology of Neural Tube Defects

Frontiers in Genetics ◽

10.3389/fgene.2021.659612 ◽

2021 ◽

Vol 12 ◽

Author(s):

Richard H. Finnell ◽

Carlo Donato Caiaffa ◽

Sung-Eun Kim ◽

Yunping Lei ◽

John Steele ◽

...

Keyword(s):

United States ◽

Folic Acid ◽

Spina Bifida ◽

Birth Defects ◽

Neural Tube ◽

Neural Tube Defects ◽

The United States ◽

Model Systems ◽

Posterior Portion ◽

Gene Environment

Human structural congenital malformations are the leading cause of infant mortality in the United States. Estimates from the United States Center for Disease Control and Prevention (CDC) determine that close to 3% of all United States newborns present with birth defects; the worldwide estimate approaches 6% of infants presenting with congenital anomalies. The scientific community has recognized for decades that the majority of birth defects have undetermined etiologies, although we propose that environmental agents interacting with inherited susceptibility genes are the major contributing factors. Neural tube defects (NTDs) are among the most prevalent human birth defects and as such, these malformations will be the primary focus of this review. NTDs result from failures in embryonic central nervous system development and are classified by their anatomical locations. Defects in the posterior portion of the neural tube are referred to as meningomyeloceles (spina bifida), while the more anterior defects are differentiated as anencephaly, encephalocele, or iniencephaly. Craniorachischisis involves a failure of the neural folds to elevate and thus disrupt the entire length of the neural tube. Worldwide NTDs have a prevalence of approximately 18.6 per 10,000 live births. It is widely believed that genetic factors are responsible for some 70% of NTDs, while the intrauterine environment tips the balance toward neurulation failure in at risk individuals. Despite aggressive educational campaigns to inform the public about folic acid supplementation and the benefits of providing mandatory folic acid food fortification in the United States, NTDs still affect up to 2,300 United States births annually and some 166,000 spina bifida patients currently live in the United States, more than half of whom are now adults. Within the context of this review, we will consider the role of maternal nutritional status (deficiency states involving B vitamins and one carbon analytes) and the potential modifiers of NTD risk beyond folic acid. There are several well-established human teratogens that contribute to the population burden of NTDs, including: industrial waste and pollutants [e.g., arsenic, pesticides, and polycyclic aromatic hydrocarbons (PAHs)], pharmaceuticals (e.g., anti-epileptic medications), and maternal hyperthermia during the first trimester. Animal models for these teratogens are described with attention focused on valproic acid (VPA; Depakote). Genetic interrogation of model systems involving VPA will be used as a model approach to discerning susceptibility factors that define the gene-environment interactions contributing to the etiology of NTDs.

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

Current Opinion in Gynecology and Obstetrics ◽

10.18314/cogo.v4i1.2081 ◽

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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