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Overview of interventions for and outcomes of neural tube defect-affected pregnancies. Adapted from Blencowe, et al. 28 1 Including maximizing the control and appropriate medications for chronic conditions, including epilepsy and diabetes, with preconception optimization of medication to reduce risk. 2 Including information on eTOPFAs where they are legal and where it is the parental choice, prognosis and long-term outcomes, and plans for delivery. 3 Including delivery in a hospital with neonatal intensive care/neonatal surgical capabilities, planned cesarean section if required.
Source publication
Neural tube defects (NTDs) are associated with substantial mortality, morbidity, disability, and psychological and economic costs. Many are preventable with folic acid, and access to appropriate services for those affected can improve survival and quality of life. We used a compartmental model to estimate global and regional birth prevalence of NTD...
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Objective
To assess the three key issues for congenital anomalies (CAs) prevention and care, namely, CA prevalence, risk factor prevalence and survival, in a longitudinal cohort in Riyadh, Saudi Arabia.
Setting
Tertiary care centre, Riyadh, Saudi Arabia.
Participants
Saudi women enrolled during pregnancy over 3 years and their 28 646 eligible pre...
Citations
... Globally, neural tube defects (NTDs) affect an estimated 260,100 (uncertainty interval [UI]: 213,800-322,000) pregnancies annually, and 117,900 (UI: 105,500-186,600) end in infant death. 18 Observational and experimental evidence has shown that periconceptual folic acid interventions can prevent a substantial proportion of NTDs. 4,19,20 It has been estimated that >40% of women globally have red blood cell (RBC) folate concentrations below the threshold associated with increased risk of NTDs. ...
... Effectiveness was then defined, based on data from supplementation trials,60 as the effect of achieving 400 µg folic acid/day by a folic acid intervention among pregnant women on fetal NTDs. Because other sources of dietary folate theoretically contribute to NTD reduction, we considered this an extremely conservative sensitivity analysis.NTD cases averted were translated to NTD-related deaths through first estimating the proportion of each NTD type (anencephaly, spina bifida, and encephalocele) and then multiplying by the proportion of each NTD type that ended in death by the age of 5 years; the proportions used in the calculations were based on estimates from Blencowe et al.18 We assumed that 38.7% of NTD cases are anencephaly, 49.2% spina bifida, and 12.1% encephalocele. ...
... We assumed that 38.7% of NTD cases are anencephaly, 49.2% spina bifida, and 12.1% encephalocele. With no specialized medical care, it was estimated that 100% of cases of anencephaly, 95% of cases of spina bifida, and 95% of cases of encephalocele will end in death by the age of 5 years.18 These proportions were applied to the number of NTD cases averted to estimate the number of NTD-related deaths averted.We checked the biological plausibility of our estimates of folic acid preventable NTD cases using the threshold set by Arth's model 61 described inLuo et al. 43 This calculation estimates the maximum number of NTD-related cases that can be prevented by folic acid fortification. ...
Micronutrient interventions can reduce child mortality. By applying Micronutrient Intervention Modeling methods in Senegal, Burkina Faso, and Nigeria, we estimated the impacts of bouillon fortification on apparent dietary adequacy of vitamin A and zinc among children and folate among women. We then used the Lives Saved Tool to predict the impacts of bouillon fortification with ranges of vitamin A, zinc, and folic acid concentrations on lives saved among children 6-59 months of age. Fortification at 250 µg vitamin A/g and 120 µg folic acid/g was predicted to substantially reduce vitamin A-and folate-attributable deaths: 65% for vitamin A and 92% for folate (Senegal), 36% for vitamin A and 74% for folate (Burkina Faso), and >95% for both (Nigeria). Zinc fortification at 5 mg/g would avert 48% (Senegal), 31% (Burkina Faso), and 63% (Nigeria) of zinc-attributable deaths. The addition of all three nutrients at 30% of Codex nutrient reference values in 2.5 g bouillon was predicted to save an annual average of 293 child lives in Senegal (3.5% of deaths from all causes among children 6-59 months of age), 933 (2.1%) in Burkina Faso, and 18,362 (3.7%) in Nigeria. These results, along with evidence on program feasibility and costs, can help inform fortification program design discussions.
... In 2015, around 260 100 live births were affected by NTD worldwide. 10 Approximately 75% of newborns with NTD die before reaching the age of 5. Among 5-year survivors of NTD, 56% were severely disabled, and 51% had mobility limitations. ...
... 6 12 Though there is variety in estimation, the prevalence of NTD was 18.6 cases per 10 000 live births worldwide. 10 A review report from India showed that the overall birth prevalence of NTD in 2013 was 4.1 cases per 1000 live births. 13 In Latin American countries, the birth prevalence of NTD ranges from 0.2 to 9.6 cases per 1000 live births. ...
Background
Neural tube defects are a significant cause of morbidity and mortality that can occur in the early pregnancy periods. Though the burden is high, it gains only limited attention. In Ethiopia, the estimated number of neural tube defect cases was significantly higher. So, identifying factors contributing to it would be significant for planning risk reduction and preventive strategies. Therefore, identifying the possible determinants was aimed at this study.
Methods
A hospital-based, unmatched case–control study was conducted on 104 cases and 208 controls selected from neonatal intensive care units of teaching hospitals in Gedeo Zone and Sidama Region, southern Ethiopia from December 2021 to November 2022. All neural tube defect cases were included consecutively and controls were selected by using a simple random sampling method. Data were collected using interviewer-administered semistructured questionnaires. Data analysis was done by using SPSS V.25. Binary logistic regression was used, and variables with a p value less than 0.25 in bivariate analysis were entered into the multivariable logistic regression model. An adjusted OR with a 95% CI was estimated, and finally, variables that show a level of p value less than 0.05 in multivariable analysis were declared statistically significant.
Result
After controlling confounders, factors such as unplanned pregnancy 2.20 (95% CI 1.20 to 4.041), history of abortions 2.09 (95% CI 1.19 to 3.67), khat chewing 6.67 (95% CI 2.95 to 15.06), antipyretic and analgesic medications 2.87 (95% CI 1.47 to 5.56) and, being a female neonate 2.11 (95% CI 1.21 to 3.67) were significantly associated with a neural tube defect.
Conclusion
This study has identified some determinants of neural tube defects. Hence, the behavioural, medical and obstetrical conditions of mothers need serious evaluation in the prepregnancy period. So, improving preconception counselling and prenatal care practices would have a significant role in reducing the risk of neural tube defects.
... Spina bifida is a type of neural tube defect (NTD), a group of disorders caused by failure of the neural tube to fuse in the third week of gestation [1]. A recent analysis estimated that globally, at least 213,800 − 322,000 pregnancies are affected by NTDs each year, and in low-income and middle-income countries, the prevalence of NTDs exceeds one in every 100 births [2]. ...
... Folic acid supplement use reduces the risk of spina bifida [3], and fortification of staple foods with folic acid has been successful in decreasing spina bifida rates in multiple countries [4,5]. However, a substantial number of affected pregnancies occur in areas with folic acid fortification and to women known to have taken folic acid supplements [6], and the effectiveness of folic-acid based preventive strategies varies significantly across and even within countries [2,5]. There is an urgent need to identify modifiable factors that may reduce the burden of this condition. ...
Background
Spina bifida, a developmental malformation of the spinal cord, is associated with high rates of mortality and disability. Although folic acid-based preventive strategies have been successful in reducing rates of spina bifida, some areas continue to be at higher risk because of chemical exposures. Bangladesh has high arsenic exposures through contaminated drinking water and high rates of spina bifida. This study examines the relationships between mother’s arsenic exposure, folic acid, and spina bifida risk in Bangladesh.
Methods
We conducted a hospital-based case-control study at the National Institute of Neurosciences & Hospital (NINS&H) in Dhaka, Bangladesh, between December 2016 and December 2022. Cases were infants under age one year with spina bifida and further classified by a neurosurgeon and imaging. Controls were drawn from children seen at NINS&H and nearby Dhaka Shishu Hospital. Mothers reported folic acid use during pregnancy, and we assessed folate status with serum assays. Arsenic exposure was estimated in drinking water using graphite furnace atomic absorption spectrophotometry (GF-AAS) and in toenails using inductively coupled plasma mass spectrometry (ICP-MS). We used logistic regression to examine the associations between arsenic and spina bifida. We used stratified models to examine the associations between folic acid and spina bifida at different levels of arsenic exposure.
Results
We evaluated data from 294 cases of spina bifida and 163 controls. We did not find a main effect of mother’s arsenic exposure on spina bifida risk. However, in stratified analyses, folic acid use was associated with lower odds of spina bifida (adjusted odds ratio [OR]: 0.50, 95% confidence interval [CI]: 0.25-1.00, p = 0.05) among women with toenail arsenic concentrations below the median value of 0.46 µg/g, and no association was seen among mothers with toenail arsenic concentrations higher than 0.46 µg/g (adjusted OR: 1.09, 95% CI: 0.52–2.29, p = 0.82).
Conclusions
Mother’s arsenic exposure modified the protective association of folic acid with spina bifida. Increased surveillance and additional preventive strategies, such as folic acid fortification and reduction of arsenic, are needed in areas of high arsenic exposure.
... NTDs are associated with substantial mortality, morbidity, disability, and psychological and economic costs in which an estimated 13% of neonatal deaths attributed to birth defects in low resource countries [3]. In Ethiopia, the prevalence of NTD reported as 10.9 per 1000 pregnancies in Debere Birhan referral hospital and 4.2/1000 in Addis Ababa [4]. Many are preventable with folic acid, and accesses to appropriate services that can result in improve survival and quality of life. ...
... Many are preventable with folic acid, and accesses to appropriate services that can result in improve survival and quality of life. Improved surveillance of all adverse outcomes is needed to improve the robustness of total NTD prevalence estimation, evaluate effectiveness of prevention through folic acid fortification, and improve outcomes through care and rehabilitation [4]. ...
Background
Neural tube defects (NTDs) account for the largest proportion of congenital anomalies of the central nervous system and result from failure of the neural tube to close spontaneously between the 3rd and 4th weeks of in utero development. Prognosis and treatment outcome depends on the nature and the pattern of the defect. The nature of treatment outcomes and its pattern associated with grave prognosis is not well known in the study area.
Objective
The aim of study was to determine the patterns and short term neurosurgical management outcomes of newborns with neural tube defects admitted at Felege Hiwot Specialized Hospital.
Methods
Institutional based retrospective cross-sectional study among neonates, who were admitted at Felege Hiwot Specialized Hospital with neural tube defects from January 1st to December, 30th, 2018 was conducted. All Charts of Neonates with confirmed diagnosis of neural tube defects were included as part of the study. Trained data collectors (medical interns) supervised by trained supervisors (general practitioners) collected the data using a pretested data extraction format. Data were coded, entered and analyzed using SPSS version 23 software. Frequency and cross tabulations were used to summarize descriptive statistics of data, and tables and graphs were used for data presentation.
Result
About 109 patients had complete documentation and imaging confirmed neural tube defects. Myelomeningocele was the commonest pattern 70 (64.2%). Thoracolumbar spine was the commonest site of presentation 49(45%). The most common associated impairment was hydrocephalus 37(33.9%). Forty-five (41.1%) had multiple complications. The mortality rate was 7.3%, 44% were discharged with sequalae and 36.7% were discharged without impairment. The significant causes of death were infection 66.7% and Chiari crisis 33.3%.
Conclusion
Myelomeningocele was the most frequent clinical pattern of neural tube defect and thoracolumbar spine was the commonest site. Isolated neural tube defect was the commonest finding. There were multiple complications after surgery accompanied with meningitis and hydrocephalus. The mortality rate among neonates with neural tube defects was considerably high. The commonest causes of death were infection and Chiari crisis.
... The process of neural induction encompasses a sophisticated network of molecular regulatory mechanisms that play vital roles in the establishment of the nervous system, including the formation of neural tissue structures and the determination of neural cell fates. Disruptions in this intricate process can result in neurodevelopmental abnormalities and a range of neurological disorders, significantly impacting the well-being and survival prospects of the developing foetus [8,9]. Hence, elucidating the molecular regulatory mechanisms underlying neural induction holds great potential for gaining profound insights into the pathogenesis of neurological diseases. ...
Polycomb group RING finger (PCGF) proteins, a crucial subunits of the Polycomb complex, plays an important role in regulating gene expression, embryonic development, and cell fate determination. In our research, we investigated Pcgf5, one of the six PCGF homologs, and its impact on the differentiation of P19 cells into neural stem cells. Our findings revealed that knockdown of Pcgf5 resulted in a significant decrease in the expression levels of the neuronal markers Sox2, Zfp521, and Pax6, while the expression levels of the pluripotent markers Oct4 and Nanog increased. Conversely, Pcgf5 overexpression upregulated the expression of Sox2 and Pax6, while downregulating the expression of Oct4 and Nanog. Additionally, our analysis revealed that Pcgf5 suppresses Wnt3 expression via the activation of Notch1/Hes1, and ultimately governs the differentiation fate of neural stem cells. To further validate our findings, we conducted in vivo experiments in zebrafish. We found that knockdown of pcgf5a using morpholino resulted in the downregulated expression of neurodevelopmental genes such as sox2, sox3, and foxg1 in zebrafish embryos. Consequently, these changes led to neurodevelopmental defects. In conclusion, our study highlights the important role of Pcgf5 in neural induction and the determination of neural cell fate.
... )(Crider et al., 2011) (Blencowe et al., 2018)(López-Camelo et al., 2005)(Castillo-Lancellotti et al., 2013)(Williams et al., 2015) Actualmente más de 60 países en el mundo implementan programas nacionales que mandatan la fortificación obligatoria de alimentos con ácido fólico, incluida Nicaragua. (Kancherla, 2023) (COMIECO, 2010) (MIFIC, 2011). ...
... Worldwide, there are around 23 million miscarriages (1), 2.4 million neonatal deaths (2), and 260,000 neural tube defect-affected pregnancies each year (3). There is high-and moderate-certainty evidence that maternal exposures before conception, such as a lack of dietary folate, high body mass index (BMI), interpregnancy weight gain and physical inactivity increase the risk of these outcomes and others (4). ...
Background
Systematic review evidence suggests preconception health interventions may be effective in improving a range of outcomes. However, few studies have explored women’s views on potential content and delivery methods for these interventions.
Methods
Participants were purposively sampled from respondents (n = 313) of a survey. Semi-structured, in-depth interviews were conducted to explore their views on seven candidate delivery methods for preconception health interventions: general practitioners (GPs), nurse practitioners, pharmacists, social media, personal texts and emails, pregnancy tests, and health education in schools. Data were analyzed using a data-driven framework analysis.
Results
Twenty women were interviewed. Women wanted interventions to be easily accessible but allow them to conceal their pregnancy plans. They preferred to choose to receive preconception interventions but were receptive to health professionals raising preconception health during ‘relevant’ appointments such as contraceptive counseling and cervical smear tests. They wanted intervention content to provide trustworthy and positively framed information that highlights the benefits of good preconception health and avoids stigmatizing women for their weight and preconception actions. The inclusion of support for preconception mental health and the use of visual media, personalization, simple information, and interesting and unfamiliar facts were viewed favorably.
Conclusion
Interventions to improve preconception health should reflect the sensitivities of pregnancy intentions, be easy to access in a way that enables discretion, and be designed to seek consent to receive the intervention. These interventions should ideally be tailored to their target populations and provide trustworthy information from reputable sources. The potential for unintended harmful effects should be explored.
... Diverse parental perspectives regarding optimal management modalities for children with NTDs are documented in the literature. Studies from Poland and Saudi Arabia reveal varying attitudes, with preferences ranging from a majority favoring in utero surgeries to significant proportions advocating for pregnancy termination upon early diagnosis of NTDs [10,11]. Yet, no prior investigation has explored parental perspectives on TOP and intrauterine myelomeningocele repair within the Jordanian context. ...
Introduction
Neural tube defects (NTDs) represent a spectrum of heterogeneous birth anomalies characterized by the incomplete closure of the neural tube. In Jordan, NTDs are estimated to occur in approximately one out of every 1000 live births. Timely identification of NTDs during the 18–22 weeks of gestation period offers parents various management options, including intrauterine NTD repair and termination of pregnancy (TOP). This study aims to assess and compare parental knowledge and perceptions of these management modalities between parents of affected children and those with healthy offspring.
Materials and methods
This retrospective case-control study was conducted at Jordan University Hospital (JUH) using telephone-administered questionnaires. Categorical variables were summarized using counts and percentages, while continuous variables were analyzed using mean and standard deviation. The association between exposure variables and outcomes was explored using binary logistic regression. Data analysis was performed using SPSS for Windows version 26 (SPSS Inc., Chicago, IL).
Results
The study sample comprised 143 participants, with 49.7% being parents of children with NTDs. The majority of NTD cases were associated with unplanned pregnancies, lack of folic acid supplementation, and postnatal diagnosis. Concerning parental knowledge of TOP in Jordan, 86% believed it to be legally permissible in certain situations. However, there was no statistically significant difference between cases and controls regarding attitudes toward TOP. While the majority of parents with NTD-affected children (88.7%) expressed a willingness to consider intrauterine surgery, this percentage decreased significantly (to 77.6%) after receiving detailed information about the procedure’s risks and benefits (p = .013).
Conclusions
This study represents the first case-control investigational study in Jordan focusing on parental perspectives regarding TOP versus intrauterine repair of myelomeningocele following a diagnosis of an NTD-affected fetus. Based on our findings, we urge the implementation of a national and international surveillance program for NTDs, assessing the disease burden, facilitating resource allocation toward prevention strategies, and promoting early diagnosis initiatives either by using newly suggested diagnostic biomarkers or early Antenatal ultrasonography.
... The two most common types of NTDs are SB and anencephaly [17]. While it is challenging to determine the true incidence of NTDs as different measurement approaches exist [18], an estimated 300,000 babies are born with NTDs worldwide each year [19]. Global prevalence at birth is approximately 18.6 per 10,000 live births [18,20]; whereas in the US specifically, birth prevalence of NTDs is nearly six per 10,000 live births [21]. ...
... While it is challenging to determine the true incidence of NTDs as different measurement approaches exist [18], an estimated 300,000 babies are born with NTDs worldwide each year [19]. Global prevalence at birth is approximately 18.6 per 10,000 live births [18,20]; whereas in the US specifically, birth prevalence of NTDs is nearly six per 10,000 live births [21]. An estimated 1,500 children are born with NTDs in the US annually [17]. ...
PURPOSE: The purpose of this project was to establish a pathway for electronic medical record (EMR) customization, utilizing quality improvement methodology, to both identify and address adverse social determinants of health (SDOH) among a diverse spina bifida (SB) population. METHODS: Starting in September 2020, the four fundamental steps were to (1) facilitate an advisory committee to safeguard the standard clinical protocols, (2) characterize barriers to implementation, (3) evaluate workflow to sustain data entry capture, and (4) manage the technology platform for seamless integration. The SB clinic was the first clinic within the enterprise to rollout the use of an adverse SDOH mitigation activity. A Spanish-speaking interpreter was scheduled for all clinics, as many families were limited in English proficiency. RESULTS: The customization of the EMR to support an efficient workflow to address SDOH was feasible in a large and diverse urban medical center. Of the 758 patients served in the clinic, a myelomeningocele diagnosis was present in 86% of individuals. While 52% of participants were female, ethnically 52% of individuals served were Latino. Many of these individuals disclosed being recent immigrants to the United States. Often immigration and asylum related issues were at the forefront of the SDOH issues addressed. CONCLUSION: Given the occurrence of adverse SDOH among individuals with SB, many of whom are new Latin-American immigrants, meaningful clinical efforts are needed to both identify and address the causes of the observed disparities. EMR customization is feasible and can identify and, through social prescriptions, address SDOH to support the provision of safe, high quality, and equitable care for vulnerable and medically complex populations at home and potentially abroad.
... Although largely preventable, they nonetheless pose a serious threat to global morbidity, disability, mortality, and financial expenses [1,2]. According to estimates of the global and regional prevalence of neural tube defects (NTDs) for 2015, about 260,100 (95% CI: 213,800-322,000) newborns around the world are born annually with neural tube defects excluding early spontaneous fetal losses [3]. In 2015, there were an estimated 117,100 NTD-affected pregnancies that ended in stillbirth or elective terminations of pregnancy for fetal anomalies. ...
... In 2015, there were an estimated 117,100 NTD-affected pregnancies that ended in stillbirth or elective terminations of pregnancy for fetal anomalies. Besides, of NTD-affected live births, about 117,900 resulted in under-5 deaths [3]. Other similar estimates showed that the disability-adjusted life years from NTDs exceed 8.6 million [4]. ...
... The burden of neural tube defects shows a discrepancy between geographic locations worldwide [2,3]. According to estimates of the global and regional prevalence of neural tube defects for 2015, the frequency of NTDs per 10,000 births was 7.5 in North America, 9.6 in Europe, 13.1 in Southeast Asia, and 14.2 in sub-Saharan Africa [3]. ...
Neural tube defects are serious birth defects of the central nervous system that result from a multifaceted disruption of normal embryogenesis of the nervous system. Although largely preventable, they nonetheless pose a serious threat to global morbidity, disability, mortality, and financial expenses. Despite this, it has been neglected and has only been the subject of limited research until recently. Furthermore, surveillance efforts for neural tube defects remain limited, and no decline in defects has been documented in less developed countries. Here, we report two cases of craniorachischisis and one case of discordant twins for anencephaly. Moreover, the relevant works of literature that are necessary to understand and address this unrelenting phenomenon are provided.
