Risk Of Neural Tube Defects Research Articles

Influence of folic acid on pregnancy outcome: Review study

Adequate folic acid intake is essential throughout gestation to ensure normal fetal growth anddevelopment. Although the causal relationship between the deficiency of folic acid (Plasma totalhomocysteine"tHcy" level is elevated) and risk of neural tube defects are well proved, the relationbetween folic acid deficiency and other pregnancy complications is still un clear. The present study aimsto review the data published about the relationship between serum folate and pregnancy complications.By reviewing 57 studies, this study concludes that folic acid deficiency leads to elevate plasmahomocysteine, which increased risk of serious complications of pregnancy and delivery. So, it isrecommended for women to take 400 microgram of folic acid supplements daily, before pregnancy toprevent those complications.

CIC missense variants contribute to susceptibility for spina bifida.

Neural tube defects (NTDs) are congenital malformations resulting from abnormal embryonic development of the brain, spine, or spinal column. The genetic etiology of human NTDs remains poorly understood despite intensive investigation. CIC, homolog of the Capicua transcription repressor, has been reported to interact with ataxin-1 (ATXN1) and participate in the pathogenesis of spinocerebellar ataxia type 1. Our previous study demonstrated that CIC loss of function (LoF) variants contributed to the cerebral folate deficiency syndrome by downregulating folate receptor 1 (FOLR1) expression. Given the importance of folate transport in neural tube formation, we hypothesized that CIC variants could contribute to increased risk for NTDs by depressing embryonic folate concentrations. In this study, we examined CIC variants from whole-genome sequencing (WGS) data of 140 isolated spina bifida cases and identified eight missense variants of CIC gene. We tested the pathogenicity of the observed variants through multiple in vitro experiments. We determined that CIC variants decreased theFOLR1 protein level and planar cell polarity (PCP) pathway signaling in a human cell line (HeLa). In a murine cell line (NIH3T3), CIC loss of function variants downregulated PCP signaling. Taken together, this study provides evidence supporting CIC as a risk gene for human NTD.

Association between air pollutants and neural tube defects during pregnancy in Lanzhou, China: a time series analysis.

Few studies have evaluated the association between air pollutants and neural tube defects (NTDs). Moreover, the existing research ignores the lag effect of air pollution on health and provides inconsistent epidemiological evidence. We aim to estimate the association between air pollution and NTDs during the first trimester of pregnancy and identify specific susceptible windows. Birth data was collected from the Birth Defects Surveillance Network in Lanzhou from September 1, 2014, to December 31, 2019. Air quality and meteorological data were collected from ambient air monitoring stations and China Meteorological Data Network. The log connection function of the Poisson distribution function is used to establish a DLNM model to estimate the exposure-effect relationship and exposure-lag relationship association between air pollutants levels and NTDs. There were 320,787 perinatal infants in Lanzhou from September 1, 2014, to December 31, 2019, and 486 cases of NTDs (1.5‰). The result indicates that exposure to inhalable particles (PM10) at lag 2-4 weeks was significantly associated with the risk of NTDs, with the most significant impact at the lag 2 week (RR=1.048, 95%CI, 1.015-1.084). Exposure to fine particulate matter (PM2.5)at the lag 2 weekwas significantly associated with the risk of NTDs, with the most significant impact at the lag 2 week (RR=1.077, 95%CI, 1.004-1.155). Exposure to sulfur dioxide (SO2) andnitrogen dioxide (NO2)at lag 3-6weeks was significantly associated with the risk of NTDs, with the most significant impact at the lag 4 week (RR=1.220, 95%CI, 1.105-1.348; RR=1.143, 95%CI, 1.048-1.245). This study provides further evidence that exposure to air pollutants in the first trimester of pregnancy significantly increases the risk of neural tube defects.

Association between maternal prepregnancy diabetes mellitus and preconception folic acid supplement use by Hispanic ethnicity: Findings from Georgia, New York City, and Puerto Rico PRAMS 2016–2018

AbstractBackgroundMaternal ethnicity, prepregnancy diabetes, and preconception folic acid intake, are all associated with increased risk of neural tube defects in the United States. We assessed the association between prepregnancy diabetes and preconception folic acid use by Hispanic ethnicity.MethodsWe used population‐based, cross‐sectional survey data from New York City, Georgia and Puerto Rico's 2016–2018 Pregnancy Risk Assessment Monitoring System (PRAMS). Prepregnancy Type 1 or Type 2 diabetes was self‐reported. Adequate preconception folic acid intake was defined as intake of a multivitamin, a prenatal vitamin, or a folic acid vitamin 4–7 times/week during the month before pregnancy. Multivariable logistic regression was used to calculate adjusted prevalence odds ratio (aPORs) and 95% confidence intervals (CI), stratified by Hispanic ethnicity.ResultsPrepregnancy diabetes was reported by 2.9% of Hispanic and 3.6% of non‐Hispanic participants. Adequate preconception folic acid use was reported by 25.9% and 39.9% of Hispanics and non‐Hispanics, respectively. There was an inverse association between prepregnancy diabetes and preconception folic acid use among Hispanics (aPOR = 0.75; 95% CI = 0.31, 1.81), while the association was positive among non‐Hispanics (aPOR = 1.26; 95% CI = 0.70, 2.26); however, the 95% confidence intervals for both groups contained the null value.ConclusionsThe association between prepregnancy diabetes and folic acid intake varied by Hispanic ethnicity. Our hypothesis that reproductive‐aged women with prepregnancy diabetes may receive timely diabetic care, including health counseling to take preconception folic acid, was not supported by our study data. Future studies should examine the association in additional PRAMS sites. Preconception health screening, and folic acid intake among Hispanics, should be strengthened.

Knowledge, attitudes, and health status of childbearing age young women regarding preconception health - an Italian survey.

SummaryIntroductionPreconception health is a public health issue, concerning aspects that could have repercussions on pregnancy outcomes. Despite the importance, often there is a lack of knowledge, particularly among young women. This cross-sectional study aims to evaluate knowledge, attitudes and health status of young women regarding preconception health in the Italian context.MethodsFrom July 2020 until April 2021 a validated questionnaire (systematic review, Delphi procedure and pilot study) was administered to a sample of 340 women aged 18 to 25 years, without previous pregnancy and not planning it, attending secondary grade schools and universities. It collected information on knowledge, physical, sexual and mental health. T-test and analysis of variance (ANOVA) were used to determine a significant difference in knowledge mean score (KMS) among different groups.ResultsKMS was 67.6% (SD = 18.1). Participants with Italian nationality, enrolled in a health-field university, with a full-time job, a family income higher than 35,000 €/year and teachers or health providers as information source, had a significantly higher KMS. Only 15.9% of women who saw a gynaecologist in the last year (47.7%) asked about preconception health. 56.5% knew that folic acid is effective in reducing the risk of neural tube defects, while 5.9% was taking it. 82.3% was living in stressing environment. Gender-based discrimination at work, school or family was felt by 25.1%, while 38.2% experienced at least one type of violence.ConclusionsPromoting preconception health by improving knowledge, attitudes and behaviours may be an impactful possibility to improve women’s, children’s, and communities’ health.

An evaluation of adherence to folic acid supplementation in pregnant women during early gestation for the prevention of neural tube defects.

Neural tube defects (NTD) are potentially preventable by periconceptual folic acid supplementation. Women with obesity are at higher risk of NTD, therefore, are recommended a higher dose of 5 mg folic acid to mitigate this risk. The aim of this study was to evaluate maternal practice of folic acid supplementation amongst the antenatal population in relation to maternal obesity status. Prospective observational study. Women ≤18 weeks' gestation at their first antenatal appointment attending University Maternity Hospital Limerick (Ireland) were recruited. Maternal height and weight were measured. Obesity was defined at a threshold of ≥30·0 kg/m2 and ≥27·5 kg/m2 when adjusting for ethnicity. A two-part questionnaire captured maternal characteristics and assessed supplementation compliance, commencement and dosage. Fisher's exact test for independence analysed differences in variables. A P value of <0·05 was considered significant. A total of 328 women participated over a duration of 6 weeks. Mean gestational age was 12·4 ± 1·4 weeks and mean BMI 26·7 kg/m2 ± 5·2 kg/m2. 23·8 % (n 78) were classified as obese. 96·5 % (n 315) were taking folic acid and 95·7 % (n 314) supplemented daily. 30·2 % (n 99) commenced supplementation 12 weeks prior to conception. Overall, 57·9 % (n 190) of women met folic acid supplementation dose requirements. 89·1 % (n 55) of women with obesity did not. Women with obesity were less likely to meet the higher folic acid supplementation dose requirements (P =< 0·001). Folic acid supplementation practices within this cohort were suboptimal to prevent their risk of NTD. This study showed inadequate compliance of folic acid supplementation, and inadequate dosage for women with obesity. Increased patient education and awareness are needed within the antenatal period of pregnancy to bring folic acid supplementation practices in line with best practice guidelines.

Homocysteine Metabolism in Pregnancy and Developmental Impacts.

Homocysteine is a metabolite generated by methionine cycle metabolism, comprising the demethylated derivative of methionine. Homocysteine can be metabolised by the transsulphuration pathway to cystathionine, which requires vitamin B6, or can undergo remethylation to methionine. Homocysteine remethylation to methionine is catalysed by methionine synthase activity which requires vitamin B12, regenerating methionine to allow synthesis of the universal methyl donor S-adenosylmethionine required for methylation and gene transcription regulation. The methyl-group donated for homocysteine remethylation comes from 5-methyltetrahydrofolate generated by the folate cycle, which allows tetrahydrofolate to be returned to the active folate pool for nucleotide biosynthesis. Therefore the integrated actions of the methionine and folate cycles, required to metabolise homocysteine, also perpetuate methylation and nucleotide synthesis, vitally important to support embryonic growth, proliferation and development. Dysregulated activities of these two interdependent metabolic cycles, arising from maternal suboptimal intake of nutrient co-factors such as folate and vitamin B12 or gene polymorphisms resulting in reduced enzymatic activity, leads to inefficient homocysteine metabolic conversion causing elevated concentrations, known as hyperhomocysteinemia. This condition is associated with multiple adverse pregnancy outcomes including neural tube defects (NTDs). Raised homocysteine is damaging to cellular function, binding to proteins thereby impairing their function, with perturbed homocysteine metabolism impacting negatively on embryonic development. This review discusses the “cross-talk” of maternal-fetal homocysteine interrelationships, describes the placental transport of homocysteine, homocysteine impacts on pregnancy outcomes, homocysteine and methylation effects linking to NTD risk and proposes a putative pathway for embryonic provision of folate and vitamin B12, homocysteine-modulating nutrients that ameliorate NTD risk.

Arsenic Exposure, Periconceptional Folic Acid Supplementation, and the Risk for Neural Tube Defects: A Case–Control Study

Arsenic Exposure, Periconceptional Folic Acid Supplementation, and the Risk for Neural Tube Defects: A Case–Control Study

The Amount of Folic Acid in Weekly Iron-Folic Acid Supplements Should Be Increased From 0.4 to 2,8 mg to Reduce Neural Tube Defects (NTD)

ObjectivesWeekly iron–folic acid (IFA) supplements are recommended for all menstruating women in countries where anaemia prevalence is > 20%. Anaemia caused by folate deficiency is low worldwide, and the need to include folic acid is in question. Including folic acid might reduce the risk of a neural tube defect (NTD) should a woman become pregnant. Most weekly supplements contain 0.4 mg folic acid; however, WHO recommends 2.8 mg because it is seven times the daily dose effective in reducing NTDs. There is a reluctance to switch to supplements containing 2.8 mg of folic acid because of a lack of evidence that this dose would prevent NTDs. Our aim was to investigate the effect of two doses of folic acid, compared with placebo, on red blood cell (RBC) folate, a biomarker of NTD risk. MethodsWe conducted a three-arm double-blind efficacy trial in Malaysia. Non-pregnant women (n = 331) were randomized to receive 60 mg iron and either 0, 0.4, or 2.8 mg folic acid once weekly for 16 weeks. ResultsAt 16 weeks, women receiving 0.4 mg and 2.8 mg folic acid per week had a higher mean RBC folate than those receiving 0 mg (mean difference (95% CI) 84 (54 to 113) and 355 (316 to 394) nmol/L, respectively). Women receiving 2.8 mg folic acid had a mean RBC folate 271 (234 to 309) nmol/L greater mean RBC folate than those receiving 0.4 mg. Moreover, women in the 2.8 mg group were seven times (RR 7.3, 95% CI 3.9 to 13.7) more likely to achieve an RBC folate > 748 nmol/L, a concentration associated with a low risk of NTD, compared with the 0.4 mg group. ConclusionsIFA supplements containing 2.8 mg folic acid increases RBC folate more than those containing 0.4 mg. Increased availability and access to the 2.8 mg formulation is needed. Funding SourcesNutrition International (Ottawa, Ontario).

A Systematic Review of Clinical Guidelines for Preconception Care.

Preconception care (PCC) involves a wide-ranging set of interventions to optimize health prior to pregnancy. These interventions seek to enhance conception rates, pregnancy outcomes, childhood health, and the health of future generations. To assist health care providers to exercise high-quality clinical care in this domain, clinical practice guidelines from a range of settings have been published. This systematic review sought to identify existing freely accessible international guidelines, assess these in terms of their quality using the AGREE II tool, and assess the summary recommendations and the evidence level on which they are based. We identified 11 guidelines that focused on PCC. Ten of these were classified as moderate quality (scores ranging from 3.5 to 4.5 out of 7) and only one was classified as very high quality, scoring 6.5. The levels of evidence for recommendations ranged from the lowest possible level of evidence (III) to the highest (I-a): the highest quality evidence available is for folic acid supplementation to reduce risk of neural tube defects and the role of antiviral medication to prevent HIV transmission. This systematic review identified that high-quality guidelines on PCC are lacking and that few domains of PCC recommendations are supported by high-quality evidence.

Micronutrient Balance Related to Neural Tube Defects and Prevention

Neural tube defects (NTDs) are a common congenital disorder resulting from failed neural tube formation, the precursor of the brain and spinal cord. The complex etiology of NTDs involve both genetic and environmental factors, thus investigating gene‐environment interactions is critical to understanding how NTDs occur or how NTDs may be prevented. For example, iron deficiency is among the most prevalent micronutrient deficiencies in pregnancy and there is evidence that iron deficiency can increase the risk of NTDs. Folic acid (FA) fortification in grain was implemented in the US in 1998 and now in many countries for the purpose of prevention of neural tube defects (NTDs). In 2017, the US Preventive Services Task Force further recommended the consumption of FA‐containing multivitamin/minerals (MVM) for women of childbearing age. Despite the great benefit of FA on NTD prevention, NTDs remain a serious risk.Our studies focus on mouse models of NTDs and I will discuss two projects. First, the benefits of MVM supplementation are emphasized, but a comparison between MVM supplementation and FA alone on neural tube closure and organ development has not been evaluated, particularly in the context of genetic mutations that lead to NTDs. Using a set of NTD models we have compared MMV to FA supplementation. MVM supplementation shows better improvement than FA alone in the penetrance of spinal and cranial NTDs. We are also using human iPSCs to generate organoids that assume a shape similar to the human spinal neural tube, and display neural tube characteristics, for example apical constriction and interkinetic nuclear migration. Subjecting the organoids to various molecular perturbations, such as Rho‐kinase inhibitor‐induced defects in apical constriction, we have found that both MVM and FA largely prevents this molecular deficit. The goal is to use the mouse NTD model and organoid system to better understand how FA/MVM act to prevent NTDs.Second, we are striving to move beyond the relatively non‐specific recommendations of FA/MVM supplementation to more personalized therapies that take into account the molecular underpinning of the NTD. For example, Iron homeostasis is not only controlled by the concentration of iron in diet, but by proteins responsible for its cellular uptake and metabolism. Sorting nexin 3 (Snx3) is known to regulate recycling of the transferrin receptor (TFRC), a mechanism necessary for cellular uptake of iron, and when Snx3 is knocked out in mice, embryos develop cranial NTDs. We hypothesize that in Snx3 mutants, mistrafficking of TFRC results in disrupted iron homeostasis which contributes to the failure of NT closure. Our current studies are evaluating whether intracellular iron levels are altered in Snx3 mutants and whether maternal diets supplemented with iron can prevent NTDs in the Snx3 background. The hope is that by taking into account the biological process that is disrupted, more tailored therapies can be envisioned to better prevent NTDs.

Folic acid usage and associated factors among pregnant women attending a tertiary health facility in Nigeria

Background: Folic acid (FA) is an essential water-soluble vitamin that cannot be synthesized in the human body; hence its major source is from diet. It plays a key role in embryonic development. FA supplementation in pregnancy reduces the risk of megaloblastic anaemia, preterm delivery and neural tube defects. The aim of the current study was to evaluate the use of FA and factors associated with uptake amongst pregnant women at the University of Port Harcourt Teaching Hospital.Methods: A descriptive cross-sectional study involving 451 antenatal attendees at the University of Port Harcourt Teaching Hospital from 1 January to 31 March 2020. After consent was obtained, a structured interviewer-administered questionnaire was used to collect information from the women. Data was entered into a spread sheet and analyzed with SPSS version 25. The results are presented in means and percentages. The confidence interval was set at 95% and a p value of &lt;0.05 was deemed statistically significant. Chi square test and Pearson’s correlation were used to determine association between usage of FA and variables.Results: Most of the women, 258 (57.21%) were between the ages of 30 and 39 years and were primarily nulliparous 122 (27.1%). Moreover, two-thirds of them 330 (73.2%) had post-secondary education and nearly all 409 (90.7%) of the women were married. Majority 370 (82.0%) of the pregnant women were currently taking folic acid but only 109 (24.2%) commenced before pregnancy. Use of FA was significantly associated with socio-demographic characteristics such as age, marital status, level of education and occupation (p&lt;0.05). In addition, parity, planned pregnancy, history of having a child with neural tube defect, and timing of commencement of folic acid were all significantly associated with folic acid usage (p&lt;0.05).Conclusions: Only a small proportion of pregnant women have used FA before their pregnancies. A public health policy or strategy to increase the pre-conceptional use of folic acid is needed.

A High Concentration of Polycyclic Aromatic Hydrocarbons in Umbilical Cord Tissue is Associated with an Increased Risk for Fetal Neural Tube Defects

Polycyclic aromatic hydrocarbons (PAHs) are ubiquitous in the environment and have detrimental effects on human health. Embryos are particularly susceptible to environmental insults such as PAHs. We examined the association between prenatal exposure to PAHs and the risk for fetal neural tube defects (NTDs). A case–control study was conducted with 119 NTD cases and 119 controls. A total of 16 PAHs in umbilical cord tissue, determined with gas chromatography–mass spectrometry, were used as in utero exposure markers. Logistic regression and Bayesian kernel machine regression (BKMR) were performed to evaluate the individual and overall effects of PAH exposure on the risk for NTDs, respectively. Median concentrations of 10 PAHs were significantly higher in cases than in controls. In logistic regression, concentrations of four PAHs above the median of all participants were significantly associated with an increased NTD risk, even when potential covariates were adjusted for: phenanthrene, 2.35-fold (95% confidence interval [CI] 1.04–5.34); fluoranthene, 2.37-fold (95% CI 1.02–5.48); pyrene, 2.41-fold (95% CI 1.04–5.62); and benzo(b)fluoranthene, 2.95-fold (95% CI 1.27–6.86). In BKMR, although the risk for NTD was increased with PAH concentrations above the 50th percentile, it was only when PAH concentrations exceeded the 65th percentile, the association between PAH concentration and risk for NTDs became statistically significant, while no statistical association between a single compound and NTD risk was observed when the remaining nine PAHs were taken into consideration simultaneously. The use of an indoor stove for heating and use of coal or wood for cooking were positively correlated with PAH levels in cord tissue. In conclusion, these results show that prenatal PAH exposure may be a risk factor for NTDs in offspring.

Prevention of Fetal Neural Tube Defect with Folic Acid Supplementation

Prevention of Fetal Neural Tube Defect with Folic Acid Supplementation

Knowledge of Neural Tube Defects and Prevention Through Folic Acid Use Among Women in Faisalabad, Punjab, Pakistan: A Cross-Sectional Survey.

ObjectiveNeural tube defects (NTDs) are one of the most common congenital abnormalities of the central nervous system and are associated with significant mortality, morbidity, and major life-long disability. Periconceptional folic acid reduces the risk of NTDs by up to 70%; however, in Pakistan, no public information program exists concerning the risks of NTDs or promoting folic acid use. As such, the aim of this study was to assess levels of knowledge about NTDs and folic acid use among women attending the gynaecology department of DHQ Hospital, Faisalabad, Pakistan.DesignA cross-sectional survey.SettingThe gynaecology department of the District Head Quarter (DHQ) Hospital in Faisalabad, Pakistan.ParticipantsThree hundred and fifty-five married women.Primary and Secondary Outcome MeasuresPrimary outcome measures included knowledge of NTDs and knowledge of folic acid use.ResultsAbout 85.4% of participants had no knowledge of neural tube defects and 76.7% reported no knowledge about folic acid use. The majority of participants (86.2%) were unaware that folic acid protects against NTDs. Lack of knowledge of NTDs was significantly associated with education (P = 0.001), husband’s education (P = 0.002), planned pregnancy (P = 0.002), sources of antenatal care (P = 0.003), knowledge of folic acid (P = 003), knowledge that folic acid protects against NTDs (P = 0.002), and health decision-making (P = 0.003). Knowledge of folic acid use was significantly associated with age (P = 0.000), education (P = 0.004), husband’s education (P = 0.002), monthly income (P = 0.003), planned pregnancy (P = 0.003), pregnancy trimester (P < 0.001), sources of antenatal care (P < 0.001), knowledge of NTDs (P = 0.002), knowledge that folic acid protects against NTDs (P < 0.001), use of folic acid (P < 0.001), sources of vitamin information (P < 0.001), and health decision-making (P = 0.002).ConclusionThese findings highlight extremely low levels of knowledge about NTDs and folic acid use of women in Pakistan. There is an urgent need to increase knowledge and awareness of the risks of NTDs and preventative approaches, through health education programs delivered by trusted health professionals.

Embryonic Hypotaurine Levels Contribute to Strain-Dependent Susceptibility in Mouse Models of Valproate-Induced Neural Tube Defects.

Valproic acid (VPA, valproate, Depakote) is a commonly used anti-seizure medication (ASM) in the treatment of epilepsy and a variety of other neurological disorders. While VPA and other ASMs are efficacious for management of seizures, they also increase the risk for adverse pregnancy outcomes, including neural tube defects (NTDs). Thus, the utility of these drugs during pregnancy and in women of childbearing potential presents a continuing public health challenge. Elucidating the underlying genetic or metabolic risk factors for VPA-affected pregnancies may lead to development of non-teratogenic ASMs, novel prevention strategies, or more targeted methods for managing epileptic pregnancies. To address this challenge, we performed unbiased, whole embryo metabolomic screening of E8.5 mouse embryos from two inbred strains with differential susceptibility to VPA-induced NTDs. We identified metabolites of differential abundance between the two strains, both in response to VPA exposure and in the vehicle controls. Notable enriched pathways included lipid metabolism, carnitine metabolism, and several amino acid pathways, especially cysteine and methionine metabolism. There also was increased abundance of ω-oxidation products of VPA in the more NTD-sensitive strain, suggesting differential metabolism of the drug. Finally, we found significantly reduced levels of hypotaurine in the susceptible strain regardless of VPA status. Based on this information, we hypothesized that maternal supplementation with L-carnitine (400 mg/kg), coenzyme A (200 mg/kg), or hypotaurine (350 mg/kg) would reduce VPA-induced NTDs in the sensitive strain and found that administration of hypotaurine prior to VPA exposure significantly reduced the occurrence of NTDs by close to one-third compared to controls. L-carnitine and coenzyme A reduced resorption rates but did not significantly reduce NTD risk in the sensitive strain. These results suggest that genetic variants or environmental exposures influencing embryonic hypotaurine status may be factors in determining risk for adverse pregnancy outcomes when managing the health care needs of pregnant women exposed to VPA or other ASMs.

Knowledge of Folic Acid Supplementation among Pregnant Women at a Tertiary Hospital in Southern Nigeria

Background: Folic acid is an essential water-soluble vitamin that cannot be synthesized in the human body and so its major source is from diet. It plays an important role in embryonic development. Folic acid deficiency in pregnant women results in megaloblastic anaemia, increased risk of preterm delivery and neural tube defects. The assessment of its knowledge is essential in preventing neural tube defects.&#x0D; Aim: The aim of this study was to evaluate the awareness and knowledge of folic acid as a preventive measure for neural tube defects, and their determinants amongst pregnant women at the University of Port Harcourt Teaching Hospital.&#x0D; Materials and Methods: This was a descriptive cross-sectional study conducted among 451 antenatal attendees at the University of Port Harcourt Teaching Hospital from January 1 to March 31, 2020. A structured interviewer-administered questionnaire was used to obtain information from the women after consent was given. Data obtained was collated, entered in a spread sheet, and analyzed using SPSS version 25. Results are expressed in means and percentages. The confidence interval was set at 95% and a p-value of &lt; 0.05 was statistically significant. Chi square test and Pearson’s correlation were used to determine association between knowledge of folic acid and variables.&#x0D; Results: Majority 258 (57.2%) of the women were aged 30-39 years and were mostly nulliparous 122 (27.1%). Over two-third 330 (73.2%) had post-secondary education and almost all 409 (90.7%) of the women were married. Most 375 (83.1%) of the pregnant women were aware of folic acid and its use in peri-conception care. The main source of information was from healthcare workers (54.8%), followed by family and friends (14.6%) and online media (12.0%). Only 169 (37.5%) were aware of the role of folic acid in preventing NTDs. Knowledge about the role of folic acid in the prevention of neural tube defects was significantly associated with younger age, post-secondary education, occupation, and low parity (p value &lt;0.05).&#x0D; Conclusion: Age, educational level, occupation, and parity were significantly predictive of knowledge of folic acid in the prevention of neural tube defects.

Trend and burden of neural tube defects among cohort of pregnant women in Ethiopia: Where are we in the prevention and what is the way forward?

Neural tube defect is one of the top five most serious birth defects in the world. In Ethiopia an accurate estimate of the trend and burden of neural tube defects is still unknown. There hasn't been much research done on the prevalence and trend of neural tube defects in Eastern Ethiopia. To complement previous efforts of studies, the purpose of this study is to estimate the trend and burden of neural tube defects in Eastern Ethiopia as well as to investigate the epidemiological implications of the findings. A facility-based retrospective cohort study was carried out from cohort pregnant women who delivered in selected hospitals. File records of all babies who were found to have neural tube defects could be reached between 2017 and 2019. A structured checklist was used to collect data. The incidence of each case was calculated by dividing the number of cases per year by the total number of live births in each hospital. To determine the linear trend of neural tube defects over time, linear trend of Extended Mantel-Haenszel chi-square was performed. Data were presented using frequencies and percentages. Data were analyzed using SPSS for windows version 25. A total of 48,750 deliveries were recorded during the three years of the study considered for analyses with 522 women having neural tube defect giving an incidence rate of 107.5 per 10,000 live births in the three years. The most common types of neural tube defects found in the area were anencephaly and spina bifida accounting for 48.1% and 22.6%, respectively. The distribution of neural tube defects varied across the study hospitals, with Adama Medical College Hospital having the highest proportion (46.6%). Over half of the mothers (56.7%) live in cities. Mothers in the age group 25-34 (46.9%) and multigravida mothers had higher proportions (64.4%).of neural tube defects. None of the mothers took folic acid before conception, and only 19% took iron folic acid supplementation during their pregnancy. The findings showed that an increasing trend and burden of neural tube defects and preconception folic acid supplementation is insignificant in the region which showed that where we are in the prevention of neural tube defects. The finding suggests that preconception folic acid supplementation in conjunction with health care services should be considered to reduce the risk of neural tube defects in the region. Aside from that, intensive prevention efforts for long-term folate intake through dietary diversification and appropriate public health interventions are required. Furthermore, data must be properly recorded in order to address disparities in neonatal death due to neural tube defects, and the determinants of neural tube defects should be investigated using large scale prospective studies with biomarkers.

Folic acid supplementation and malaria susceptibility and severity among people taking antifolate antimalarial drugs in endemic areas.

Folic acid supplementation and malaria susceptibility and severity among people taking antifolate antimalarial drugs in endemic areas.

MTHFR C677T and MTR A2756G Gene Polymorphism in Neural Tube Defect Patients and Its Association with Red Blood Cell Folate Level in Eastern Indian Population.

Single-nucleotide polymorphism (SNP) is a single-nucleotide change in a deoxyribose nucleic acid (DNA) sequence that occurs in >1% of population. Methylene tetra hydro folate reductase (MTHFR) C677T (rs1801133) and methionine synthase enzyme (MTR) A2756G (rs1805087) are two such SNPs occurring in coding sequence of the respective genes, which are frequently seen with neural tube defects (NTDs). MTHFR and MTR genes are involved in folate metabolism. The folate level in the course of pregnancy is treated as vital in the etiopathogenesis of NTDs. This study aims to explore the association of SNPs of both genes and red blood cell (RBC) folate levels in the predisposition to NTDs. The purpose of this investigation was to determine the relationship of NTDs with polymorphisms in MTHFR and MTR genotype and to estimate and compare the RBC folate levels in NTD patients and controls. A total of 397 individuals were enrolled (163 patients and 234 controls) for this observational study. Genotyping to find out MTHFR C677T and MTR A2756G was performed by polymerase chain reaction-restriction fragment length polymorphism technique from DNA extracted from the subject's blood. RBC folate level was estimated by chemiluminescence immunoassay method with the same blood sample. The total RBC folate levels were significantly less among cases compared to controls (P = 0.020). A significant difference for RBC folate was observed between case and control groups of various genotypes of MTHFR C677T, except heterozygote CT (P = 0.459). Among MTR A2756G, genotypes with only homozygous AA have significant difference (P = 0.003) for RBC folate levels. Among different types of NTDs, there were no significant differences for RBC folate levels. Among MTHFR C677T, T allele possessed 1.9 times risk compared to C allele for the occurrence of NTDs. In MTR A2756G polymorphism, the odds of developing NTDs were 1.6 times in heterozygous AG compared to homozygous AA. Similarly, the risk for NTDs was three times higher in subjects with both heterozygous AG and CT genotypes compared to wild-type homozygous AA and CC genotypes. The total RBC folate levels were significantly less among cases compared to controls, and the genotypes had no such effect in decrease in RBC folate levels. The presence of mutant allele in homozygous or heterozygous condition for both SNPs had increased risk associated with NTDs.