Neural Tube Defects Research Articles

RosetteArray® Platform for Quantitative High-Throughput Screening of Human Neurodevelopmental Risk.

Neural organoids have revolutionized how human neurodevelopmental disorders (NDDs) are studied. Yet, their utility for screening complex NDD etiologies and in drug discovery is limited by a lack of scalable and quantifiable derivation formats. Here, we describe the RosetteArray® platform's ability to be used as an off-the-shelf, 96-well plate assay that standardizes incipient forebrain and spinal cord organoid morphogenesis as micropatterned, 3-D, singularly polarized neural rosette tissues (>9000 per plate). RosetteArrays are seeded from cryopreserved human pluripotent stem cells, cultured over 6-8 days, and immunostained images can be quantified using artificial intelligence-based software. We demonstrate the platform's suitability for screening developmental neurotoxicity and genetic and environmental factors known to cause neural tube defect risk. Given the presence of rosette morphogenesis perturbation in neural organoid models of NDDs and neurodegenerative disorders, the RosetteArray platform could enable quantitative high-throughput screening (qHTS) of human neurodevelopmental risk across regulatory and precision medicine applications.

Frequency of gastroschisis and omphalocele and possible influence of maternal folic acid supplementation. A narrative review.

There is an increase in the worldwide prevalence of congenital abdominal wall defects (CAWD), with gastroschisis (GS) and omphalocele (OC) being the most common. It is widely accepted that folic acid supplementation (FAS) in the maternal diet decreases the incidence of anomalies such as neural tube defects, but there is controversy regarding the possible beneficial role for other congenital malformations. Several epidemiological studies raise controversy regarding a possible relationship between vitamin supplementation with the occurrence of abdominal wall malformations. The aim of the present study is to obtain an updated review of the global frequency of CAWD in neonates and the relationship with FAS in the mothers. For this we have carried out a systematic search of epidemiological studies in different article databases between 2011 and 2022. The analysis of 25 studies conducted in different countries where cases of OC and/or GS are registered directly or together with other congenital defects shows that 60% inquire into the relationship of FAS with the incidence of CAWD. Half of them proposes a beneficial effect of FAS and the other half find no association, concluding that there is no unanimous evidence that FAS in the maternal diet decreases the incidence of CAWD. However, it seems that an influential factor to take into account is the nutritional habits of the mothers.

The prevalence of neural tube defects and their prevention by folic acid supplementation

Background & AimsFolate is crucial for the development of the fetal neurological system. Moroccan Health authorities promote Folic acid (FA) supplementation, before and during pregnancy, as a significant protection against fetal neural tube defects (NTDs). Thus, the current study aims to investigate the effect of FA supplementation guidelines on NTDs prevalence and to assess the health professionals' (HPs) knowledge, attitude, and practice (KAP) regarding FA supplementation in Morocco. MethodsTo assess the prevalence of NTDs, epidemiological data were collected from local and regional medical facilities and enhanced through a literature study. In addition, an auto-administered questionnaire was implemented to evaluate KAP among HPs on the FA supplementation national program. ResultsThe study results showed that from 2017 to 2023, the national prevalence rate of NTDs ranged from 4.26 to 21 per 10,000 live births, according to the region. Lack of information about FA supplementation is evident among HPs; while, 13.7% of the participants confused FA with vitamin B12; merely 50% recognized the significance of FA; and 11.9% had no idea which foods contained the most folate. Consequently, HPs' attitude and practice towards FA supplementation were deemed inadequate. Additionally, only 35.8% of respondents stated that they occasionally inquire about their patients' nutrition, 55.9% do not prescribe FA, and 44.1% are unwilling to report cases of NTDs. ConclusionNTDs remain a serious public health problem in Morocco. Despite the significant incidence of these diseases, HPs' knowledge, attitudes and practices in terms of prevention present gaps and inadequacies. According to the results of this study, the preparation of specific training sessions and the start of preconception consultations constitute an urgent and important issue.

Role of Folate in Liver Diseases.

Folate is a water-soluble B vitamin involved in the synthesis of purines and pyrimidines and is one of the essential vitamins for human growth and reproduction. Folate deficiency due to low dietary intake, poor absorption of folate, and alterations in folate metabolism due to genetic defects or drug interactions significantly increases the risk of diseases such as neural tube defects, cardiovascular disease, cancer, and cognitive dysfunction. Recent studies have shown that folate deficiency can cause hyperhomocysteinemia, which increases the risk of hypertension and cardiovascular disease, and that high homocysteine levels are an independent risk factor for liver fibrosis and cirrhosis. In addition, folate deficiency results in increased secretion of pro-inflammatory factors and impaired lipid metabolism in the liver, leading to lipid accumulation in hepatocytes and fibrosis. There is substantial evidence that folate deficiency contributes to the development and progression of a variety of liver diseases, including non-alcoholic fatty liver disease (NAFLD), non-alcoholic steatohepatitis (NASH), alcoholic liver disease (ALD), viral hepatitis, hepatic fibrosis, and liver cancer. Here we review key studies on the role of folate in the pathophysiology of liver diseases, summarize the current status of studies on folate in the treatment of liver diseases, and speculate that folate may be a potential therapeutic target for liver diseases.

Epidemiology of neural tube defects in Finland: a nationwide register study 1987-2018.

Our aim was to evaluate the prevalence, mortality, regional and sex distribution of neural tube defects (NTDs) in Finland. Data for this population-based study were collected from 1987 to 2018 from the national health and social welfare registers. There were in total 1634 cases of NTDs, of which 511 were live births, 72 pregnancies ended in stillbirth and 1051 were terminations of pregnancy due to fetal anomaly (TOPFA). The total prevalence of NTDs was 8.6 per 10 000 births and it increased slightly annually (OR 1.008; 95% CI: 1.002, 1.013) during the 32-year study period. The birth prevalence of NTDs decreased (OR 0.979; 95% CI: 0.970, 0.987), but the prevalence of TOPFA increased annually (OR 1.024; 95% CI 1.017, 1.031). The perinatal mortality of NTD children was 260.7 per 1000 births and the infant mortality was 184.0 per 1000 live births, whereas these measures in the general population were 4.6 per 1000 births and 3.3 per 1000 live births, respectively. There was no difference in the NTD prevalence between males and females (P-value 0.77). The total prevalence of NTDs varied from 7.1 to 9.4 per 10 000 births in Finland by region. Although the majority of NTDs are preventable with an adequate folic acid supplementation, the total prevalence increased in Finland during the study period when folic acid supplementation was mainly recommended to high-risk families and to women with folic acid deficiency. NTDs remain an important cause of infant morbidity and mortality in Finland.

Neural crest and periderm-specific requirements of Irf6 during neural tube and craniofacial development.

IRF6 is a key genetic determinant of syndromic and non-syndromic cleft lip and palate. The ability to interrogate post-embryonic requirements of Irf6 has been hindered, as global Irf6 ablation in the mouse causes neonatal lethality. Prior work analyzing Irf6 in mouse models defined its role in the embryonic surface epithelium and periderm where it is required to regulate cell proliferation and differentiation. Several reports have also described Irf6 gene expression in other cell types, such as muscle, and neuroectoderm. However, analysis of a functional role in non-epithelial cell lineages has been incomplete due to the severity and lethality of the Irf6 knockout model and the paucity of work with a conditional Irf6 allele. Here we describe the generation and characterization of a new Irf6 floxed mouse model and analysis of Irf6 ablation in periderm and neural crest lineages. This work found that loss of Irf6 in periderm recapitulates a mild Irf6 null phenotype, suggesting that Irf6-mediated signaling in periderm plays a crucial role in regulating embryonic development. Further, conditional ablation of Irf6 in neural crest cells resulted in an anterior neural tube defect of variable penetrance. The generation of this conditional Irf6 allele allows for new insights into craniofacial development and new exploration into the post-natal role of Irf6.

Association of embryonic inositol status with susceptibility to neural tube defects, metabolite profile, and maternal inositol intake

AbstractMaternal nutrition contributes to gene–environment interactions that influence susceptibility to common congenital anomalies such as neural tube defects (NTDs). Supplemental myo‐inositol (MI) can prevent NTDs in some mouse models and shows potential for prevention of human NTDs. We investigated effects of maternal MI intake on embryonic MI status and metabolism in curly tail mice, which are genetically predisposed to NTDs that are inositol‐responsive but folic acid resistant. Dietary MI deficiency caused diminished MI in maternal plasma and embryos, showing that de novo synthesis is insufficient to maintain MI levels in either adult or embryonic mice. Under normal maternal dietary conditions, curly tail embryos that developed cranial NTDs had significantly lower MI content than unaffected embryos, revealing an association between diminished MI status and failure of cranial neurulation. Expression of inositol‐3‐phosphate synthase 1, required for inositol biosynthesis, was less abundant in the cranial neural tube than at other axial levels. Supplemental MI or d‐chiro‐inositol (DCI) have previously been found to prevent NTDs in curly tail embryos. Here, we investigated the metabolic effects of MI and DCI treatments by mass spectrometry‐based metabolome analysis. Among inositol‐responsive metabolites, we noted a disproportionate effect on nucleotides, especially purines. We also found altered proportions of 5‐methyltetrahydrolate and tetrahydrofolate in MI‐treated embryos suggesting altered folate metabolism. Treatment with nucleotides or the one‐carbon donor formate has also been found to prevent NTDs in curly tail embryos. Together, these findings suggest that the protective effect of inositol may be mediated through the enhanced supply of nucleotides during neural tube closure.

Prognostic risk factors for early outcomes of patients with myelomeningocele: a prospective study

IntroductionMyelomeningocele (MMC) is a prevalent form of neural tube defect. Despite advancements in treatment, MMC still poses significant health risks, including complications leading to chronic disability and mortality. Identifying prognostic risk factors for early outcomes is crucial for tailored intervention strategies.MethodsThis prospective study involved newborns and infants diagnosed with MMC who underwent surgery between 2020 and 2023 at Urmia University of Medical Sciences. Demographic data and surgical outcomes were collected, and participants were followed up for six months. Statistical analyses were conducted using descriptive statistics, Chi-Square, and independent t-test.ResultsThe study included 29 MMC cases, with an incidence rate of 1.4 per 10,000 live births. Lesions were predominantly located in the lumbar spine. Although mortality rates appeared to increase with ascending lesion sites, this trend was not statistically significant. Short-term outcomes revealed high morbidity and mortality rates, with neurological deficits being the most prevalent complication. Multivariable analysis identified head circumference as a significant predictor of adverse outcomes (IRR = 1.37, 95% CI = 1.02 to 1.86, p = 0.04). Furthermore, an increase in birth weight was associated with a reduction in the incidence of requiring a ventriculoperitoneal shunt (IRR = 0.99, 95% CI = 0.998 to 0.999, p = 0.02).ConclusionThis prospective study highlights prognostic risk factors for early outcomes in MMC patients, emphasizing the need for personalized intervention strategies. By addressing modifiable risk factors and implementing targeted interventions, healthcare providers can strive to improve outcomes and enhance the quality of life for MMC patients.

Determinants of neural tube defect among newborns admitted to neonatal intensive care units of teaching hospitals in Gedeo Zone and Sidama Region, Southern Ethiopia: a case–control study

BackgroundNeural 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...

Tracking the Global Burden of Neural Tube Defects and Assessing Disparities Across World Health Organization Regions: A Scoping Literature Review.

Neural tube defects (NTDs) are an important cause of global morbidity worldwide. Well-planned global neurosurgery and public health efforts can aid vulnerable communities, but there is a need to elucidate the global burden of NTDs and identify regions without available data to better target interventions. A scoping review to quantify worldwide NTD prevalence using the PubMed/Medline and birth defects surveillance registries was conducted. Data published after January 1, 1990, encompassing prevalence values of at least the 2 most prevalent NTDs-spina bifida and encephalocele-were abstracted. Average NTD prevalence rates were aggregated by World Health Organization (WHO) region and World Bank classification, and differences were determined using the analysis of variance test. Differences in availability of nationally representative data by WHO region and World Bank classification were determined using χ2 tests. This review captured 140 studies from a total of 93 of 194 WHO member countries. The percentage of countries within a geographic region with available NTD prevalence data was highest in the Eastern Mediterranean (EMR) (85.7%) and lowest in Africa (AFR) (31.3%). The NTD prevalence range was 0.9-269.6 per 10 000 births. Statistically significant differences in reported NTD prevalence rates existed by WHO Region (P = .00027) and World Bank income level of study country (P = .00193). Forty countries (43%) had conducted national-level studies assessing NTD prevalence. There was a statistically significant difference in the availability of nationally representative prevalence data depending on the WHO region (P = .0081) and World Bank classification of study country (P = .0017). There is a gap in availability of NTD prevalence data worldwide, with many WHO member states lacking national-level NTD prevalence estimates. These findings highlight the need for greater NTD surveillance efforts to identify the countries with the greatest need for targeted global intervention.

Choline-An Underappreciated Component of a Mother-to-Be's Diet.

The nutritional status of the mother-to-be has a key impact on the proper development of the fetus. Although all nutrients are important for the developing baby, recent research indicates the importance of adequate choline intake during the periconceptional period, pregnancy, and lactation. Choline plays a key role in the biosynthesis of cell membranes, supporting liver function, neurotransmission, brain development, and DNA and histone methylation. Choline participates in the formation of a child's nervous system, supports its cognitive development, and reduces the risk of neural tube defects. The human body is incapable of producing sufficient choline to meet its needs; therefore, it must be obtained from the diet. Current data indicate that most women in their reproductive years do not achieve the recommended daily intake of choline. The presented narrative review indicates the importance of educating mothers-to-be and thereby increasing their awareness of the effects of choline on maternal and child health, which can lead to a more aware and healthy pregnancy and proper child development.

Amniotic fluid-derived stem cells: potential factories of natural and mimetic strategies for congenital malformations.

Mesenchymal stem cells (MSCs) from gestational tissues represent promising strategies for in utero treatment of congenital malformations, but plasticity and required high-risk surgical procedures limit their use. Here we propose natural exosomes (EXOs) isolated from amniotic fluid-MSCs (AF-MSCs), and their mimetic counterparts (MIMs), as valid, stable, and minimally invasive therapeutic alternatives. MIMs were generated from AF-MSCs by combining sequential filtration steps through filter membranes with different porosity and size exclusion chromatography columns. Physiochemical and molecular characterization was performed to compare them to EXOs released from the same number of cells. The possibility to exploit both formulations as mRNA-therapeutics was explored by evaluating cell uptake (using two different cell types, fibroblasts, and macrophages) and mRNA functionality overtime in an in vitro experimental setting as well as in an ex vivo, whole embryo culture using pregnant C57BL6 dams. Molecular and physiochemical characterization showed no differences between EXOs and MIMs, with MIMs determining a 3-fold greater yield. MIMs delivered a more intense and prolonged expression of mRNA encoding for green fluorescent protein (GFP) in macrophages and fibroblasts. An ex-vivo whole embryo culture demonstrated that MIMs mainly accumulate at the level of the yolk sac, while EXOs reach the embryo. The present data confirms the potential application of EXOs for the prenatal repair of neural tube defects and proposes MIMs as prospective vehicles to prevent congenital malformations caused by in utero exposure to drugs.

Maternal periconceptional exposure to drinking water disinfection by-products and neural tube defects in offspring.

Associations between maternal periconceptional exposure to disinfection by-products (DBPs) in drinking water and neural tube defects (NTDs) in offspring are inconclusive, limited in part by exposure misclassification. Maternal interview reports of drinking water sources and consumption from the National Birth Defects Prevention Study were linked with DBP concentrations in public water system monitoring data for case children with an NTD and control children delivered during 2000-2005. DBPs analyzed were total trihalomethanes, the five most common haloacetic acids combined, and individual species. Associations were estimated for all NTDs combined and selected subtypes (spina bifida, anencephaly) with maternal periconceptional exposure to DBPs in public water systems and with average daily periconceptional ingestion of DBPs accounting for individual-level consumption and filtration information. Mixed effects logistic regression models with maternal race/ethnicity and educational attainment at delivery as fixed effects and study site as a random intercept were applied. Overall, 111 case and 649 control children were eligible for analyses. Adjusted odds ratios for maternal exposure to DBPs in public water systems ranged from 0.8-1.5 for all NTDs combined, 0.6-2.0 for spina bifida, and 0.7-1.9 for anencephaly; respective ranges for average daily maternal ingestion of DBPs were 0.7-1.1, 0.5-1.5, and 0.6-1.8. Several positive estimates (≥1.2) were observed, but all confidence intervals included the null. Using community- and individual-level data from a large, US, population-based, case-control study, we observed statistically nonsignificant associations between maternal periconceptional exposure to total and individual DBP species in drinking water and NTDs and subtypes.

Docosahexaenoic acid, eicosapentaenoic acid, arachidonic acid, and neural tube defects in Tunisian population.

To determine the effect of maternal status in (plasma and red blood cell) folate, vitamin B12, homocysteine, and vitamin D, as well as their interaction with MTHFR (C677T and A1298C) and MTRR A66G polymorphisms, on maternal plasma docosahexaenoic acid (DHA), eicosapentaenoic acid (EPA), and arachidonic acid (ARA) levels and the risk of neural tube defects (NTDs). ARA, EPA, and DHA composition was assessed using capillary gas chromatography. ARA and DHA levels were higher in controls than in case mothers for low plasma folate status. For low red blood cell folate status, DHA levels were higher in controls than in case mothers. For high homocysteine levels, ARA and DHA levels were higher in controls than in case mothers. NTD mothers had lower EPA and DHA levels for low vitamin B12 levels. NTD mothers had lower DHA levels for low vitamin D levels. For low plasma folate status, DHA levels in the MTHFR C677T gene and ARA and EPA levels in MTHFR A1298C gene were different among the three genotypes in case mothers. DHA levels in the MTHFR C677T gene were different among the three genotypes in case mothers for both low and high homocysteine levels. For low vitamin B12 levels, ARA and DHA levels were different among the three genotypes of the MTHFR C677T gene in case mothers. In the MTHFR C677T gene, ARA and DHA levels were different among the three genotypes in case mothers for low vitamin D levels. More advanced research is required to verify a suitable biochemical parameter status in relation to the genotypes in pregnant women.

Teratogenesis, Perinatal, and Neurodevelopmental Outcomes After In Utero Exposure to Antiseizure Medication: Practice Guideline From the AAN, AES, and SMFM.

This practice guideline provides updated evidence-based conclusions and recommendations regarding the effects of antiseizure medications (ASMs) and folic acid supplementation on the prevalence of major congenital malformations (MCMs), adverse perinatal outcomes, and neurodevelopmental outcomes in children born to people with epilepsy of childbearing potential (PWECP). A multidisciplinary panel conducted a systematic review and developed practice recommendations following the process outlined in the 2017 edition of the American Academy of Neurology Clinical Practice Guideline Process Manual. The systematic review includes studies through August 2022. Recommendations are supported by structured rationales that integrate evidence from the systematic review, related evidence, principles of care, and inferences from evidence. The following are some of the major recommendations. When treating PWECP, clinicians should recommend ASMs and doses that optimize both seizure control and fetal outcomes should pregnancy occur, at the earliest possible opportunity preconceptionally. Clinicians must minimize the occurrence of convulsive seizures in PWECP during pregnancy to minimize potential risks to the birth parent and to the fetus. Once a PWECP is already pregnant, clinicians should exercise caution in attempting to remove or replace an ASM that is effective in controlling generalized tonic-clonic or focal-to-bilateral tonic-clonic seizures. Clinicians must consider using lamotrigine, levetiracetam, or oxcarbazepine in PWECP when appropriate based on the patient's epilepsy syndrome, likelihood of achieving seizure control, and comorbidities, to minimize the risk of MCMs. Clinicians must avoid the use of valproic acid in PWECP to minimize the risk of MCMs or neural tube defects (NTDs), if clinically feasible. Clinicians should avoid the use of valproic acid or topiramate in PWECP to minimize the risk of offspring being born small for gestational age, if clinically feasible. To reduce the risk of poor neurodevelopmental outcomes, including autism spectrum disorder and lower IQ, in children born to PWECP, clinicians must avoid the use of valproic acid in PWECP, if clinically feasible. Clinicians should prescribe at least 0.4 mg of folic acid supplementation daily preconceptionally and during pregnancy to any PWECP treated with an ASM to decrease the risk of NTDs and possibly improve neurodevelopmental outcomes in the offspring.

World health assembly resolution for preventing micronutrient deficiencies and associated neural tube defects-A case study of global partnerships for a successful resolution adoption.

On May 29, 2023, the 76th World Health Assembly (WHA) unanimously adopted the resolution entitled, "Accelerating efforts for preventing micronutrient deficiencies and their consequences, including spina bifida and other neural tube defects, through safe and effective food fortification."The Society for Birth Defects Research and Prevention published their resolution in 2015 supporting mandatory fortification of staple foods with folic acid and recommendations aiming to achieve global total prevention of folate-sensitive spina bifida and anencephaly, setting a goal to achieve by the year 2024.The WHA resolution provides another global push for the cause, with recommendations to member nations for food fortification to be achieved by the year 2030. This short communication documents the steps, from inception up to the passage, of the 76th WHA resolution on food fortification, with a narrative on the nature of strategic advocacy efforts by multiple governmental and nongovernmental organizations. WHA resolutions can take many years to be introduced and passed by the assembly; however, this is a case study of the swiftness of the process enabled by powerful global partnership. The documentation of this process serves as an example for developing and processing future WHA resolutions aiming to improve global maternal and child health.

The association of ZIC5 gene rs965623242 polymorphism with neural tube defects

Objective: This study aims to evaluate the effects of the rs965623242 reference single nucleotide polymorphism (SNP) on the ZIC5 gene in patients with neural tube defect (NTD). Patients and Methods: One hundred sixty-eight controls and one hundred sixty-eight NTD patients were included in the study. Deoxyribonucleic acid (DNA) isolation from peripheral blood samples was carried out for all participants. rs965623242 polymorphic region was amplified by polymerase chain reaction (PCR) and then sequenced. Results: In the 5’ untranslated region (UTR) of the first exon, guanine (G) to adenine (A) base change was detected in the 38th base of NM_033132.5. G to A base change was determined as GG genotype in 117 (69.6%), AG genotype in 30 (17.86%), and AA genotype in 21 (12.5%) patients. In the control group, GG genotype in 107 (63.7%), AG genotype in 23 (13.7%) and AA genotype in 38 (22.7%) were observed. The statistically significant difference was observed between the NTD and the control groups in ZIC5 genotypes or allele frequencies [p=0.044, odds ratio (OR)=0.49 (0.27-0.88) and p=0.021, OR=0.65 (0.46-0.93), respectively]. Conclusion: ZIC5 rs965623242 polymorphism may have a protective role in the NTD development in the Eastern Anatolian population, in Turkey. Although, these findings demonstrate that the rs965623242 polymorphism is associated with NTD, we do not clarify how its expression is affected during the embryonic period and ongoing processes. We will need advanced ongoing genetic and clinical studies to obtain more detail.

Suture Characteristics after Exposure to Amniotic Fluid from an in vitro Model of Fetal Surgery

Introduction: Suture tensile properties have only been tested in extrauterine environments. Amniotic fluid (AF) is a complex milieu of enzymes and inflammatory factors. This study tested the mechanical properties of sutures with a variety of inherent properties, after exposure to AF from patients with conditions prompting fetal intervention. Methods: AF was obtained from 3 patients with twin-twin transfusion syndrome (TTTS), and 3 patients with neural tube defects. Six types of 2-0 sutures were placed on 1.2 N of tension to mimic placement in vivo, and incubated in AF at 37°C (98.6°F). These included ethylene terephthalate (Ethibond), glycomer 631 (V-Loc), poliglecaprone 25 (Monocryl), poly-4-hydroxybutyrate (Monomax), polydioxanone (PDS), and polyglactin 910 (Vicryl). Failure load, stress, strain, and initial modulus were tested after 24 h of incubation and after 4 weeks, and compared with control (unincubated) sutures using t tests, Kruskal-Wallis tests, and stress-strain curves. Results: Poliglecaprone 25 and polyglactin 910 dissolve more quickly in AF compared to outside the uterus, disintegrating at 4 weeks. Ethylene terephthalate and PDS experienced little change across 4 weeks of incubation. Glycomer 631 and poly-4-hydroxybutyrate exhibited interesting behavior in AF: glycomer 631 became more deformable at 24 h but later regained toughness by 4 weeks, while poly-4-hydroxybutyrate became tougher and in some cases stronger with time in AF. As a class, braided sutures act more like rigid materials, and monofilaments act like deformable plastics. Conclusion: These findings along with other suture characteristics such as ease of handling and availability may inform fetal intervention teams as they optimize procedures in a relatively new surgical field.

Unveiling the Integral Role of Magnetic Resonance Imaging in the Comprehensive Evaluation and Diagnosis of Spinal Dysraphism.

Background Spinal dysraphism, characterized by incomplete closure of neural and bone spinal structures, manifests as congenital fusion abnormalities along the dorsal midline, involving the skin, subcutaneous tissue, meninges, vertebrae, and neural tissue. Magnetic resonance imaging (MRI), the preferred imaging modality for assessing spinal dysraphism across all age groups, provides direct visualization of the spinal cord without the need for contrast or ionizing radiation while also eliminating bone artifacts and allowing multiplanar imaging. The objective of this study was to evaluate the range of spinal dysraphism lesions and assess the significance of MRI in their evaluation. Methodology Thirty patients with suspected spinal dysraphism underwent evaluation at the Medical College Hospital and Study Centre in Vijayapur, India. This cross-sectional observational study included patients diagnosed or provisionally diagnosed with spinal dysraphism based on clinical and imaging profiles. Cases were identified through preliminary findings on radiographs. Results The study encompassed individuals aged one month to 20 years, with the largest proportion of patients (36.67%) falling within the 1-5-year age group. Spina bifida was the most prevalent spinal abnormality, accounting for 70% of cases. In 12 patients (40%), the most prevalent location of involvement was the lumbosacral spine. Conclusion MRI provides excellent tissue differentiation, particularly of lipomatous tissue, with reproducible and comprehensive section planes and relative operator independence. Moreover, MRI is beneficial for children with suspected spinal dysraphism as it can be performed without ionizing radiation, biological risks, or the need for intrathecal contrast media.

Folic Acid Supplementation to Prevent Neural Tube Defects Updated Evidence Report and Systematic Review for the US Preventive Services Task Force

(JAMA. 2023;330(5):460–466) Neural tube defects are among the most commonly recorded birth defects for babies in the United States, and they are typically caused by low folate concentrations during conception and early gestation. These malformations can cause disabilities and even death in fetuses and children. In 2017, the United States Preventative Services Task Force (USPSTF) determined that women who increase their intake of folic acid before becoming pregnant can significantly help reduce the likelihood of their babies developing neural tube defects. The USPSTF also asserted their 2009 recommendation that patients should take 0.4 to 0.8 mg (400 to 800 μg) of folic acid daily if they were planning or capable of pregnancy, and that there was no consistent strong evidence of harmful adverse effects. This evidence report was conducted to analyze studies post-2017 for the USPSTF’s current recommendation on folic acid supplementation.