Understanding perspectives on neural tube defect management: insights from Jordanian parents.

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.

Characterizing neuroinflammation and identifying prenatal diagnostic markers for neural tube defects through integrated multi-omics analysis.

BACKGROUND: Neural Tube Defects (NTDs) are congenital malformations of the central nervous system resulting from the incomplete closure of the neural tube during early embryonic development. Neuroinflammation refers to the inflammatory response in the nervous system, typically resulting from damage to neural tissue. Immune-related processes have been identified in NTDs, however, the detailed relationship and underlying mechanisms between neuroinflammation and NTDs remain largely unclear. In this study, we utilized integrated multi-omics analysis to explore the role of neuroinflammation in NTDs and identify potential prenatal diagnostic markers using a murine model. METHODS: Nine public datasets from Gene Expression Omnibus (GEO) and ArrayExpress were mined using integrated multi-omics analysis to characterize the molecular landscape associated with neuroinflammation in NTDs. Special attention was given to the involvement of macrophages in neuroinflammation within amniotic fluid, as well as the dynamics of macrophage polarization and their interactions with neural cells at single-cell resolution. We also used qPCR assay to validate the key TFs and candidate prenatal diagnostic genes identified through the integrated analysis in a retinoic acid-induced NTDs mouse model. RESULTS: Our analysis indicated that neuroinflammation is a critical pathological feature of NTDs, regulated both transcriptionally and epigenetically within central nervous system tissues. Key alterations in gene expression and pathways highlighted the crucial role of STATs molecules in the JAK-STAT signaling pathway in regulating NTDs-associated neuroinflammation. Furthermore, single-cell resolution analysis revealed significant polarization of macrophages and their interaction with neural cells in amniotic fluid, underscoring their central role in mediating neuroinflammation associated with NTDs. Finally, we identified a set of six potential prenatal diagnostic genes, including FABP7, CRMP1, SCG3, SLC16A10, RNASE6 and RNASE1, which were subsequently validated in a murine NTDs model, indicating their promise as prospective markers for prenatal diagnosis of NTDs. CONCLUSIONS: Our study emphasizes the pivotal role of neuroinflammation in the progression of NTDs and underlines the potential of specific inflammatory and neural markers as novel prenatal diagnostic tools. These findings provide important clues for further understanding the underlying mechanisms between neuroinflammation and NTDs, and offer valuable insights for the future development of prenatal diagnostics.

Atypical presentation of tight filum terminale with thoracic disc herniation: a case report.

BACKGROUND: Tight filum terminale is a rare and challenging condition to diagnose because it presents with nonspecific symptoms and unclear imaging findings. This report documents an atypical case of tight filum terminale. CASE PRESENTATION: The patient was a previously healthy Asian 18-year-old male presenting with recurrent upper extremity and back pain, initially treated as nonspecific musculoskeletal pain. Notably, the patient's symptoms were inconsistent with the dermatome, showing no correlation with his skin's sensory innervation areas. In contrast to typical tight filum terminale presentations focused on lower extremity and lumbar region disturbances, this patient experienced pain and weakness predominantly in the upper extremities and back, hypothesized to result from traction myelopathy exacerbated by thoracic disc herniation. Investigations including blood and nerve function tests were inconclusive. However, a magnetic resonance imaging scan revealed a combination of tight filum terminale and tiny thoracic disc herniation. A diagnosis of tethered spinal cord syndrome was confirmed following further tests and imaging. The filum terminale was surgically removed, resolving the symptoms at a 7-month follow-up. CONCLUSIONS: This case underlines the importance of including tight filum terminale as a differential diagnosis in cases of unexplained upper or lower extremity pain. Primary care practitioners, particularly those managing undefined symptoms, should consider tight filum terminale in their diagnostic approach.

Gastrulation and Split Cord Malformation.

Split cord malformation (SCM) is a rare form of closed spinal dysraphism, in which two hemi-cords are present, instead of a single spinal cord. SCM is categorised into type 1 and type 2. Type 1 SCM is defined by the presence of a bony or osseocartilaginous spur between the hemi-cords, whereas type 2 SCM has no bony spur, and the two hemi-cords are contained within a single dura. In this chapter, we present the putative mechanisms by which SCM arises, including gastrulation defects and Pang's unified theory. The typical and rare clinical presentations and variations are described. Finally, we outline the step-by-step surgical approach to both SCM 1 and 2 and the overall prognosis of both conditions.

Bladder and bowel dysfunction in Down syndrome with neural tube defect: case report and review of the literature.

BACKGROUND: Down syndrome is a genetic disorder caused by trisomy of chromosome 21 and characterized by an increased risk of multiorgan involvement. In Down syndrome children, functional constipation and lower urinary tract infections have been described, together with higher risk for incontinence and delayed sphincter control. At present, to our knowledge, no clear association between Down syndrome, Bladder Bowel Dysfunction and neural tube defects has been previously described. CASE PRESENTATION: We describe two female patients with Down syndrome presenting Bladder Bowel Dysfunction in association with neural tube defects, who both underwent personalized multidisciplinary intervention and pelvic floor rehabilitation, with good clinical outcomes. CONCLUSION: At present, no screening program has been established in order to rule out neural tube defects or neurogenic urinary anomalies in Down syndrome patients presenting bowel and/or bladder dysfunction. In our opinion, presence of spinal abnormalities, despite rare, may be contribute to urinary symptoms and should be ruled out in patients presenting progressive or persistent Bladder Bowel Dysfunction. Early diagnosis and management of spinal cord defects associated with neurogenic urinary dysfunction may allow to prevent possible complications.

Neurenteric cyst of the craniovertebral junction treated to reduce recurrence using different strategies: Two case reports and a literature review.

RATIONALE: Neurenteric cysts are rare benign lesions that are usually located in the lower cervical and upper thoracic spine and extremely rare in the craniovertebral junction. It is generally challenging to completely remove the neurenteric cysts of the craniovertebral junction. We report the cases of 2 patients with neurenteric cyst in the ventral craniovertebral junction managed using different treatment strategies. PATIENT CONCERNS: The first patient was a 64-year-old man. He man was admitted with headache, posterior neck pain, and a tingling sensation in both the forearms. The second patient was a 53-year-old woman. She was admitted with tingling sensations and numbness in both the hands and feet. DIAGNOSES: Cervical spine magnetic resonance imaging showed 2 intradural extramedullary cystic lesions in case 1 and a C2 to C3 intradural extramedullary cystic mass in case 2. INTERVENTIONS AND OUTCOMES: The patient of the case 1 underwent a left C1 to C2 hemi-laminectomy and the cysts were completely removed. Eleven years after the surgery, there was no recurrence. In case 2, we performed a left C2 to C3 hemi-laminectomy and removed only a part of the outer membrane to enable sufficient communication with the surrounding normal subarachnoid space. After removing the cyst wall, the patient underwent C1 to 2 trans articular screw fixation to prevent cervical instability. Ten years after surgery, there was no recurrence of the cyst or new lesions. LESSONS: Clinicians should consider neurenteric cyst in the differential diagnosis of arachnoid cyst or epidermoid cyst. If performing a complete surgical removal is difficult, partial surgical removal, using a cysto-subarachnoid shunt and stabilization, such as screw fixation, could be an alternative treatment option to reduce the risk of mortality and morbidity.

Multi-Institutional Review From the Pediatric Colorectal and Pelvic Learning Consortium of Minor Spinal Cord Dysraphism in the Setting of Anorectal Malformations: Diagnosis, Treatment, and Outcomes.

BACKGROUND/RATIONALE: Anorectal malformations (ARM) are associated with congenital anomalies of the spine, but the impact of a minor spinal cord dysraphism (mSCD) on fecal continence in the setting of ARM remains unclear. MATERIALS/METHODS: A retrospective review was performed utilizing data from the Pediatric Colorectal and Pelvic Learning Consortium (PCPLC) registry. The patient cohort was reviewed for ARM type, mSCD screening/incidence/neurosurgical intervention and age-based BMP utilization. RESULTS: 987 patients with ARM were categorized into mild (38%), moderate (32%) or complex (19%). 694 (70%) had normal spinal (NS) status. 271 (27.5%) patients had mSCD. MRI alone (49%) was the most common screening test for mSCD. US screening had a positive predictive value of 86.3% and a negative predictive value of 67.1%. Surgical intervention rates for mSCD ranged between 13% and 77% at a median age of 0.6-5.2 years. 726 (73.6%) patients were prescribed BMP (74.4% NS, 77.5% mSCD). Laxatives were most utilized BMP in all groups <5yo. ≥5yo, enema utilization increased with ARM complexity independent of spine status (with or without neurosurgical intervention). Neurosurgical intervention did not affect BMP utilization at any age or with any ARM when mSCD was identified. CONCLUSIONS: MSCD influence on bowel function in the setting ARM remains unclear. No significant impact of mSCD was noted on ARM patient bowel management program utilization. Variability exists within PCPLC site with screening and intervention for mSCD in patients with ARM. Future studies with standardized care may be needed to elucidate the true impact of mSCD on long term patient outcomes in ARM patients. TYPE OF STUDY: Retrospective Comparative Study. LEVEL OF EVIDENCE: III.

Examining the relationship between autism spectrum disorder and neural tube defects.

Folate and vitamin B12 deficiencies have been strongly associated with neural tube defects, preliminary research suggests folate and B12 deficiency may also be associated with autism spectrum disorder (ASD). We examined the association between neural tube defects and ASD as a further avenue to examine the hypothesis that ASD is related to maternal folate and B12 deficiency during pregnancy. A retrospective case-control study was performed using the Military Health System Data Repository. Cases and matched controls were followed from birth until at least 6 months after their first autism diagnosis. International Classification of Diseases, 9th Revision, codes were used to identify neural tube defects in the health records. A total of 8760 cases between the ages of 2 and 18 years were identified. The prevalence of any neural tube defect was 0.11% in children without ASD and 0.64% in children with ASD. Children with autism were over 6 times as likely to have a neural tube defect. The increased odds of neural tube defect in children diagnosed with ASD, found through our methodology, supports prior studies. Although additional studies are needed to elucidate the relationship between ASD and maternal folate and vitamin B12 deficiency during pregnancy this study supports their use during pregnancy.

Identification of Neurocan and Phosphacan as Early Biomarkers for Open Neural Tube Defects.

Open neural tube defects (NTDs) such as myelomeningocele (MMC) are debilitating and the most common congenital defects of the central nervous system. Despite their apparent clinical importance, the existing early prenatal diagnostic options for these defects remain limited. Using a well-accepted retinoic-acid-induced model of MMC established in fetal rats, we discovered that neurocan and phosphacan, the secreted chondroitin sulfate proteoglycans of the developing nervous system, are released into the amniotic fluid (AF) of fetal rats displaying spinal cord defects. In contrast to normal controls, elevated AF levels of neurocan and phosphacan were detected in MMC fetuses early in gestation and continued to increase during MMC progression, reaching the highest level in near-term fetuses. The molecular forms of neurocan and phosphacan identified in the AF of MMC fetuses and those found in MMC spinal cords were qualitatively similar. In summary, this is the first report demonstrating the presence of neurocan and phosphacan in the AF of MMC fetuses. The identification of elevated levels of neurocan and phosphacan in the AF of MMC fetuses provides two prospective biomarkers with the potential for early prenatal diagnosis of open NTDs.

A Case of Neonate with Split Cord Malformation Presenting with Hypoplasia of the Left Lower Extremity.

The frequency of split cord malformation (SCM) is approximately 1 in 5000 births; however, patients are rarely diagnosed with SCM in the neonatal period. Moreover, there have been no reports of SCM with hypoplasia of the lower extremities at birth. A 3-day-old girl was transferred to our hospital for a thorough examination of hypoplasia of the left lower extremity and lumbosacral abnormalities detected after birth. The spinal magnetic resonance imaging (MRI) revealed a split spinal cord in a single dural tube. Based on the MRI findings, the patient was diagnosed with SCM type II. Following discussions with the parents, pediatricians, neurosurgeons, psychologists, and social workers, we decided to perform untethering to prevent further neurological impairment after achieving a sufficient body weight. The patient was discharged on day 25 of life. Early diagnosis and intervention may improve the neurological prognosis in terms of motor function, bladder and bowel function, and superficial sensation; thus, clinicians should report infrequent findings that may lead to SCM diagnosis. SCM should be differentiated in patients with left-right differences in the appearance of the lower extremity, particularly in those with lumbosacral abnormalities.

Neural Tube Defects from Antenatal Diagnosis to Discharge - a Tertiary Academic Centre Experience.

Background: Bleeding Worldwide, approximately 300,000 infants are born annually with neural tube defects (NTDs), which carry a high risk of morbidity and mortality. Objective: The aim of the study was to describe the experience with NTD patients born at a tertiary academic center. Methods: A retrospective record review of all neonates with NTD admitted to the neonatal intensive care unit over six years. Results: Out of the 39 patients identified, 32 (82.1%) were diagnosed antenatally. Most NTD cases were of the myelomeningocele 26 (66.7%) type. The most common site of the myelomeningocele was lumbar, and the thoracolumbar site had the worst prognosis. Conclusion: Early detection of the disease allows better planning of delivery and treatment decisions. Nevertheless, understanding the magnitude of the problem necessitates adopting public health prevention strategies for better outcomes.

Electrodiagnostic findings of retethering in children with spinal dysraphism.

PURPOSE: Retethering of the cord can occur after the initial untethering surgery. Typical neurological manifestations indicative of cord tethering are often difficult to determine in pediatric patients. Patients who had a primary untethering operation are likely to present with some degree of neurological deficits from a previous tethering event, and urodynamic studies (UDSs) and spine images are frequently abnormal. Therefore, more objective tools to detect retethering are needed. This study sought to delineate the characteristics of EDS of retethering, and therefore, could support the diagnosis of retethering. METHODS: Among 692 subjects who had an untethering operation, data from 93 subjects who had been suspected of retethering clinically were retrospectively extracted. The subjects were divided into two groups, a retethered group, and a non-progression group, according to whether or not surgical interventions had been performed. Two consecutive EDSs, clinical findings, spine magnetic resonance imaging scans, and UDSs before the development of new tethering symptoms were reviewed and compared. RESULTS: In the electromyography (EMG) study, the appearance of abnormal spontaneous activity (ASA) in new muscles was prominent in the retethered group (p < 0.01). The loss of ASA was more pronounced in the non-progression group (p < 0.01). Specificity and sensitivity of EMG for retethering were 80.4 and 56.5%, respectively. In the nerve conduction study, the two groups did not show differences. The size of fibrillation potential was not different between the groups. CONCLUSIONS: To provide support for a clinician's decision on retethering, EDS could be an advantageous tool with high specificity when the results are compared to previous EDS results. Routine follow-up EDS post-operatively is recommended as a baseline for comparison at the time when retethering is clinically suspected.

Tethered cord syndrome in KBG syndrome.

Tethered cord syndrome (TCS) is characterized by leg pain and weakness, bladder and bowel dysfunction, orthopedic malformations such as scoliosis, and motor deficits caused by the fixation of the spinal cord to surrounding tissues. TCS is surgically treatable and often found in conjunction with other syndromic conditions. KBG syndrome is caused by variants in the ANKRD11 gene and is characterized by short stature, developmental delay, macrodontia, and a triangular face. The current study explores the prevalence of TCS in pediatric KBG patients and their associated signs and symptoms. Patients with KBG were surveyed for signs and symptoms associated with TCS and asked if they had been diagnosed with the syndrome. We found a high proportion of patients diagnosed with (11%) or being investigated for TCS (24%), emphasizing the need to further characterize the comorbid syndromes. No signs or symptoms clearly emerged as indicative of TCS in KBG patients, but some the prevalence of some signs and symptoms varied by sex. Male KBG patients with diagnosed TCS were more likely to have coordination issues and global delay/brain fog than their female counterparts. Understanding the presentation of TCS in KBG patients is critical for timely diagnosis and treatment.

Influence of selected factors on serum AFP levels in pregnant women in terms of prenatal screening accuracy - literature review.

Alpha-fetoprotein (AFP) is one of the biochemical components of the triple (T-3) and quadruple (T-4) test used so far in prenatal screening mainly for trisomy 21 (T21) and neural tube defects (NTDs). Based on many years of experience and data collected during these studies, a variety of factors have been identified that can affect a pregnant woman's serum AFP level, and thus the risk assessment of trisomy 21 (T21) and neural tube defects. These include both unaccounted for purely medical data (e.g., from baseline information about the patient, assisted reproduction methods used, comorbidities and emerging pregnancy pathologies) and errors made during statistical analysis. Since the triple or quadruple test is usually performed between 15 and 20 weeks of pregnancy, most scientific studies are based solely on results from this period of pregnancy - limited data are available for the first and third trimesters of pregnancy. In the era of new improved screening tests, AFP has the potential to become an independent marker for pregnancy well-being evaluation.

Spinal intradural arachnoid cyst associated with diastematomyelia in an adult: a case report and review of literature.

We report a case of a spinal intradural arachnoid cyst in a thirty year old female with a previously undiagnosed and untreated diastematomyelia. The cyst was located exactly between the two hemi-cords of the split cord malformation. The patient was treated successfully by laminoplasty and total removal of the cyst. Additionally, sectioning of the filium terminale was done in the same sitting by a separate incision. This case posed a diagnostic dilemma. Though the clinical findings favoured an extramedullary lesion, the possibility of cystic degeneration in the spinal cord due to the tethered cord syndrome could not be completely negated. Spinal intradural arachnoid cysts have been reported in association with various neural tube defects, mainly in the paediatric age group. However, such a lesion associated with diastematomyelia in an adult, to the best of our knowledge, has not been reported previously.

Maternal Serum and Fetal Cord Blood Concentrations of Thiol/ Disulfide and Ischemia-Modified Albumin as Predictors of Neural Tube Defects.

AIM: To investigate the predictive role of thiol/ disulfide homeostasis and Ischemia-modified albumin (IMA) levels for NTDs. MATERIAL AND METHODS: A total of 71 pregnant women (31 with NTD and 42 healthy controls) were enrolled in this study. This prospective case-control study included pregnant women with NTDs as the study group and randomly selected age-matched pregnant women with healthy fetuses as the control group. The two groups were compared on the basis of thiol/disulfide and IMA levels in the maternal and fetal samples. RESULTS: No statistically significant difference in native thiol, total thiol, disulfide, and calculated ratios was observed between the groups. However, maternal IMA values were significantly higher in the study group. The IMA was proven to be a predictor with a sensitivity of 77.4% and specificity of 100% for NTDs at a cut-off value of 1.32. CONCLUSION: The examination of the maternal levels of IMA may be useful in the detection of NTDs.

The Aperta type of neural tube defect: The relevant experience in a local community with the diversity of the presentation.

A series of birth defects known as neural tube defects (NTDs) appear when the neural tube fails to fully or partially close during fetal development. In nations without folic acid supplementation, their incidence ranges from 0.5 to 2 per 1,000 births. The purpose of our study is to estimate the prevalence of NTDs and define the workup for newborn infants with an open neural tube in Al-Qadissiyah, Iraq. This 18-year descriptive retrospective analysis included all babies with NTD diagnoses at the Maternity and Child Teaching Hospital in Al-Qadissiyah Governorate, Iraq. Over the research period, 187 cases of NTDs were evaluated. NTDs presented a male predominance and an incidence rate of 9.4 per 1,000 births, with spina bifida (67.9%), encephalocele (24.02%), and anencephaly (8.02%) being the most prevalent defects. The typical gestational age was 36±5, whereas the typical maternal age was 30±5. It should be noted that 29.9% of women did not take folic acid supplements during the first trimester, while one-third of moms did not benefit from medical supervision during pregnancy. In 65.2% of instances, an antenatal diagnosis was made, and cesarean section was the mode of delivery in 87,8% of cases. Other than that, 64.7% of women lived in low socioeconomic conditions, and 67.9% were from rural areas. The relevance of reinforcing and maximizing folic acid measures throughout the periconceptional phase is emphasized by the fact that NTDs require high intensity and advanced care.

[Diagnosis and surgical treatment of tethered cord syndrome accompanied by congenital dermal sinus tract in adults].

OBJECTIVE: To summarize the clinical manifestations, imaging characteristics and experience of surgical treatment of tethered cord syndrome (TCS) accompanied by dermal sinus tract (DST) in adulthoods. METHODS: The authors retrospectively analyzed a series of 25 adult patients with TCS due to DST that were surgically treated under microscope from September 2010 to October 2019. There were 10 males and 15 females with an average age of 29.7 years (rang, 18-48 years). Characterized cutaneous malformation and dermal sinus were found in the lumbosacral region in all the 25 patients. Clinically, all the patients presented with chronic back and lower-extremity pain, numbness and weakness of lower limbs, and bowel and bladder dysfunction. Two cases were admitted to the emergency room with acute infectious cerebral spinal fluid (CSF) leakage complicated with meningitis. According to magnetic resonance imaging (MRI) images, the subdural course of DST whose traction of the spinal cord, the location of the conus medullaris, the presence of subdural lesions, and the diameter of the internal filum terminale were evaluated. The surgical procedure included separating and excising of the DST, section of the internal filum terminale, detethering of the TCS, and reconstruction of the dural sac under microscopy. The patients remained in prone position in 7 days postoperation. RESULTS: MRI showed that the position of the conus medullaris was lower than the level of lumbar 2 vertebrae, and the distal part of the DST entered the subdural stretched part of the spinal cord, to constitute one of the factors of TCS in all the 25 patients. Twenty patients had fatty infiltration of internal filum terminale and another patient had thickened (approximately 5 mm in diameter) internal filum terminale resulting in tightening the conus medullaris. A total of 25 operations were performed including completely dissection and resection of the DST through the skin down to the subdural space, section of the internal filum terminale, detethering of the TCS, and the subdural dermoid cysts were removed in two patients. There were no postoperative complications. The postoperative pathology was consistent with the structure of the DST and internal filum terminale. The local pain was relieved, and the lower-extremity weakness and bowel and bladder dysfunction were gradually relieved postoperatively. The period of follow-up ranged from 3 months to 9 years (mean, 3.9 years). The neurological function of all the patients was intact, and MRI showed that the physiological curvature of the thoracolumbar spine remained normal. There was no recurrence of TCS observed during the follow-up. CONCLUSION: The adult TCS accompanied with DST is characterized by typical cutaneous malformation in the lumbosacral region and tethering of the spinal cord. The patients are usually combined with internal filum terminale enlargement tightening of conus medullaris as well. The surgical treatment including totally resection of the DST and section of the internal filum terminale to detethering the TCS at the same time under microscopy. The outcome of surgical treatment is satisfactory.

Analysis of DNMT1 gene variants in progression of neural tube defects-an in silico to in vitro approach.

Neural tube defects (NTDs) are significant congenital deformities of the central nervous system among which spina bifida is the most common form that occurs due to defect in the neurulation process of embryogenesis. NTDs are among the most common type of birth defects occurring at a range of 0.5-10 in every 1000 live births worldwide and are thought to have multifactorial etiology, including multigenetic and epigenetic notions. Epigenetic regulations control differential gene expression in normal and disease phenotypes. DNA methylation is a significant epigenetic process, guided by DNMT1, one of the most important maintenance methylating agents. However, the relationship between DNMT1 and NTDs had always been inconclusive and poorly understood. In the present study, by utilizing in silico methodologies we tried to figure out potent single nucleotide variants (SNVs) that could play roles in generating functional differences in DNMT1 expression and we also tried to check (by in vitro method) if there is any connection between DNMT1 expression and spina bifida condition. A number of coding and non-coding (both intragenic and intergenic) SNVs of DNMT1 were found (using the in silico methods) that have potentials to alter its expression. From the in vitro experimentations, differential DNMT1 RNA expressions were found between spina bifida affected newborns and their respective mothers when compared with controls. It is the first report of NTD from Eastern India precisely showing inverse correlation between DNMT1 expression and occurrence of NTD. The findings of the present study could be further considered for early prognosis and future experimental designs.