Neural tube defects (NTDs) are severe congenital anomalies that result from the failure of early neural tube closure during fetal neurogenesis. They are the most common and severe congenital malformations of the central nervous system. Identifying reliable prenatal diagnostic ultrasound and molecular markers that can predict NTDs is of paramount importance. Early diagnosis of NTDs allows embryonic treatment and prevention strategies, which are crucial for reducing the disability rate associated with these malformations, reducing the burden on individuals and on society. The purpose of this comprehensive review was to summarize the ultrasound biomarkers between 11 and 13 weeks of gestation and the molecular biomarkers used in the diagnosis of NTDs, providing additional insights into early screening for NTDs.

Intradural spinal lipomas are rare benign lesions typically located in the lumbosacral region and associated with spinal dysraphism in children. When unassociated with spinal dysraphism, they are most often diagnosed in young children or adolescents following the emergence of neurological symptoms. In their most rare form, intradural spinal lipomas may be found in adults without spinal dysraphism. Here, we present a case of a 42-year-old female with an intradural spinal lipoma without dysraphism at the T10-T11 level, demonstrating the diagnostic challenge of atypical lipomas and the importance of timely assessment and management. We also reviewed the embryopathogenesis of the different types of intradural spinal lipomas and the importance of surgical interventional planning and approach.

The G4 Alliance and its member organizations formed a delegation that participated in the 76th World Health Assembly (WHA) in 2023, which unanimously adopted the resolution to address micronutrient deficiencies through safe, effective food fortification to prevent congenital disorders such as spina bifida and anencephaly, the first neurosurgery-led resolution since the founding of the World Health Organization. The WHA included other resolutions and side events by the G4 Alliance and other organizations relevant to neurosurgery. An opportunity exists for neurosurgeons to harness the momentum from this resolution to promote initiatives to prevent neurosurgical disease or expand access to neurosurgical care.

Objective To evaluate the changes in the incidence of neural tube defects (NTDs) in Shaanxi province from 2003 to 2022,investigate the diagnosis time and outcomes of defective infants,and predict the incidence of NTDs in Shaanxi province from 2023 to 2025,thereby providing a basis for improving the birth defects surveillance system. Methods Data were collected from all the perinatal infants from 28 weeks of gestation to 7 days after birth in all the hospitals with obstetrical department in Shaanxi province during 2003-2022.The changes in the incidence of NTDs from 2003 to 2022 were analyzed based on the birth defects surveillance system. Results A total of 1 106 483 perinatal infants in Shaanxi province from 2003 to 2022 were surveyed,among which NTDs occurred in 848 perinatal infants,with an incidence of 7.66/10 000.The incidence was the highest (48.02/10 000) in 2005 and the lowest (0.57/10 000) in 2022.The NTDs in Shaanxi province were mainly spina bifida (55.90%),which was followed by anencephaly (25.71%) and encephalocele (18.40%).The incidences of the three declined with fluctuations (P<0.001).The results of the Joinpoint analysis showed that the incidence of NTDs decreased slowly with the annual percentage change of -4.04 from 2003 to 2014 and declined rapidly with the annual percentage change of -28.05 from 2014 to 2022.From 2003 to 2022,the average proportion of prenatal diagnosis of NTDs in Shaanxi province was 72.88%.Dead fetus (61.91%) was the main birth outcome,followed by live birth (26.77%),stillbirth (8.73%),and death within seven days after birth (2.59%).The incidence of NTDs in Shaanxi province from 2023 to 2025 were predicted by the GM (1,1) model as 0.49/10 000,0.41/10 000,and 0.35/10 000,respectively. Conclusion The incidence of NTDs in Shaanxi province declined significantly during 2003-2022,especially in a rapid manner after 2014.Dead fetus was the primary outcome of perinatal infants with NTDs,followed by live birth.
目的 总结2003至2022年陕西省神经管缺陷(NTDs)发生率的流行趋势和下降速率,掌握NTDs诊断时间及缺陷儿转归情况,预测2023至2025年陕西省NTDs发生率,为进一步完善出生缺陷监测系统提供新的科学依据。方法 对2003至2022年陕西省各级开设产科的医疗保健机构孕28周至出生后7 d所有围产儿进行出生缺陷监测并收集资料,基于出生缺陷监测系统分析2003至2022年NTDs发生率的分布趋势。结果 陕西省2003至2022年共监测围产儿1 106 483例,NTDs病例共848例,发生率为7.66/万,其中2005年发生率(48.02/万)最高,2022年发生率(0.57/万)最低。 NTDs以脊柱裂为主,占55.90%,其次为无脑儿(25.71%)和脑膨出(18.40%),三者发生率均在波动中呈显著下降趋势(P<0.001)。根据Joinpoint分析结果显示,2003至2014年NTDs发生率下降速度较慢,年度变化百分比为-4.04,2014至2022年NTDs发生率下降速度较快,年度变化百分比为-28.05。2003至2022年,陕西省NTDs产前诊断的平均比例为72.88%,出生结局以死胎(61.91%)为主,其次为活产(26.77%)、死产(8.73%)、出生7 d内死亡(2.59%)。经GM(1,1)模型预测,陕西省2023、2024和2025年NTDs率分别为0.49/万、0.41/万和0.35/万。 结论 2003至2022年陕西省NTDs发生率显著下降,尤其以2014年后下降速率加快。NTDs患儿出生结局以死胎为主,其次为活产。.

The superior lumbar triangle is formed by the erector spinae muscles medially, internal oblique muscles laterally and the 12th rib superiorly. Herniation through this triangle can be congenital or acquired (primary or secondary). The contents of the hernial sac commonly include retroperitoneal fat, kidneys, ascending or descending colon, small intestines, stomach, spleen, etc. We present a case of an infant with congenital herniation of the left kidney through the superior lumbar triangle with an incidentally detected closed spinal tube defect. The anatomy of the lumbar triangle and a literature review of the associated hernia have been briefly described in this article.

BACKGROUND: Exposure to long-lasting extreme ambient temperatures in the periconceptional or early pregnancy period might increase the risk of neural tube defects (NTDs). We tested whether prolonged severe heat exposure as experienced during the 2003 extreme heatwave in France, affected the risk of NTDs.
METHODS: We retrieved NTD cases spanning from January 1994 to December 2018 from the Paris Registry of Congenital Malformations. The 2003 heatwave was characterized by the long duration and high intensity of nine consecutive days with temperatures ≥35°C. We classified monthly conceptions occurring in August 2003 as \"exposed\" to prolonged extreme heat around conception (i.e., periconceptional period). We assessed whether the risk of NTDs among cohorts exposed to the prolonged severe heatwave of 2003 in the periconceptional period differed from expected values using Poisson/negative binomial regression.
RESULTS: We identified 1272 NTD cases from January 1994 to December 2018, yielding a monthly mean count of 4.24. Ten NTD cases occurred among births conceived in August 2003. The risk of NTD was increased in the cohort with periconceptional exposure to the August 2003 heatwave (relative risk = 2.14, 95% confidence interval: 1.46 to 3.13), compared to non-exposed cohorts. Sensitivity analyses excluding July and September months or restricting to summer months yielded consistent findings.
CONCLUSIONS: Evidence from the \"natural experiment\" of an extreme climate event suggests an elevated risk of NTDs following exposure to prolonged extreme heat during the periconceptional period.

BACKGROUND: Folate and vitamin B12 deficiencies in pregnant women are associated with increased risk for adverse maternal and infant health outcomes, including neural tube defects (NTDs).
METHODS: A population-based cross-sectional survey was conducted in two rural areas in Ambala District, Haryana, India in 2017 to assess baseline folate and vitamin B12 status among women of reproductive age (WRA) and predict the prevalence of NTDs. We calculated the prevalence of folate and vitamin B12 deficiency and insufficiency by demographic characteristics among 775 non-pregnant, non-lactating WRA (18-49 years). Using red blood cell (RBC) folate distributions and an established Bayesian model, we predicted NTD prevalence. All analyses were conducted using SAS-callable SUDAAN Version 11.0.4 to account for complex survey design.
RESULTS: Among WRA, 10.1% (95% CI: 7.9, 12.7) and 9.3% (95% CI: 7.4, 11.6) had serum (<7 nmol/L) and RBC folate (<305 nmol/L) deficiency, respectively. The prevalence of RBC folate insufficiency (<748 nmol/L) was 78.3% (95% CI: 75.0, 81.3) and the predicted NTD prevalence was 21.0 (95% uncertainly interval: 16.9, 25.9) per 10,000 live births. Prevalences of vitamin B12 deficiency (<200 pg/mL) and marginal deficiency (≥200 pg/mL and ≤300 pg/mL) were 57.7% (95% CI: 53.9, 61.4) and 23.5% (95% CI: 20.4, 26.9), respectively.
CONCLUSIONS: The magnitude of folate insufficiency and vitamin B12 deficiency in this Northern Indian population is a substantial public health concern. The findings from the survey help establish the baseline against which results from future post-fortification surveys can be compared.

BACKGROUND: Split cord malformation and tethered cord syndrome are challenging pathologies in the pediatric population. During 2016-2022, 56 cases of split cord malformation (SCM) and tethered cord syndrome were treated at the Republican Specialized Scientific Medical Practical Center of Neurosurgery (RSSMPCN) of Uzbekistan. This article aims to provide a retrospective analysis of the clinical presentation, radiological findings, and surgical outcomes of patients with split cord malformation and tethered cord syndrome.
METHODS: The retrospective study was conducted for 56 pediatric patients with split cord malformation and tethered cord syndrome during the abovementioned six-year period. All patients underwent MR imaging with computed tomography, followed by surgery with intraoperative neurophysiological monitoring. Each patient underwent follow-up examinations at 3 and 6 months postoperatively and yearly thereafter.
RESULTS: The mean patient age was 5.7 years (10 months to 15 years), and the male-to-female ratio was 1:2.2. Encouragingly, 44 (78.6 %) of the 56 patients showed improved neurological status postoperatively. Even in the cases where spur resection procedures were performed, there was partial neurological improvement, demonstrating the overall positive outcomes of the surgeries. Importantly, none of the 56 patients had neurological deteriorations in the postoperative period CONCLUSIONS: Split cord malformation is a rare but challenging pathology of childhood. The presentation is primarily characterized by movement, sensory or bowel disorders, and back and leg pain. This underscores the importance of early recognition and intervention when neurological symptoms are evident. Surgical intervention, as demonstrated in our study, is both appropriate and efficient in improving the neurological status of the patients.

The etiology of spina bifida, a neural tube birth defect, is largely unknown, but a majority of cases are thought to be genetic in origin. Although maternal blood type was found not to be associated with the occurrence of spina bifida, the analysis was never extended to other aspects of the disorder. The purpose of this descriptive study was to determine if maternal blood type was related to characteristics of children with spina bifida. The blood type of 221 mothers of children with spina bifida enrolled on the Arkansas Spinal Cord Disability Registry from 1995 to 2008 was obtained by mailed questionnaire. All children were community-dwelling and from singleton pregnancies. As expected, analysis of mother-child data showed that the distribution of mothers\' blood type was not statistically different from the general population (chi-squared, P = 0.9203). However, the blood type of these mothers was associated with their child\'s lesion level (chi-squared, P = 0.011). Mothers with blood type A more frequently had children with thoracic lesions; mothers with non-A blood types more frequently had children with lumbar and sacral lesions. In addition, mean birthweight differed by mothers\' blood type (analysis of variance, P = 0.025). Children of mothers with blood type A had the highest mean birthweight, while those of mothers with blood type AB had the lowest. Also, hydrocephalus was present more frequently in children with thoracic lesions compared to those with lumbar and sacral lesions (chi-squared, P = 0.001). Interestingly, these results were significant for female children but not for male children. In conclusion, maternal blood type was associated with lesion level and birthweight of children with spina bifida.

Background: Supplementing folic acid (FA) before and in the first month of conception is an essential preventive factor, especially for neural tube defects (NTDs) and other congenital anomalies. Aim: The research aimed to assess FA supplement prescribing practice during the protective period and its associated factors among health professionals in selected governmental health centers in Addis Ababa, Ethiopia, in 2023. Methods: An institutionalized cross-sectional survey was carried out in Addis Ababa public health centers with a total sample size of 396 in February 2023. Systematic random sampling methods were used, and after each respondent\'s signed consent, a row of data was gathered using pretested self-administered questionnaires. The data was coded, interred to Epi Data 4.6.0.6 and transferred to Statistical Package for Social Sciences 27 software. Then a binary and multivariable logistic regression analysis method was used to show the associated variables with FA prescribing practice using a confidence interval (CI) of 95% and a significance value < 0.05. Results: The total prevalence of FA prescribing practice during the periconceptional period was 64.4% [95% CI (59.68-69.12)]. But those prescribed during the protective period were 26.7%. Ever since the birth of a neonate with NTDs, not prescribing a dose of 4 mg of FA for women with NTD, the type of women for whom FA was prescribed were associated with FA prescribing practice during the protective period. Conclusion: The healthcare professional\'s prescribing practice during the protective period was still low and needs more attention to strengthen FA supplements.