Type Of Neural Tube Defects Research Articles

The etiopathogenic and morphological spectrum of anencephaly: a comprehensive review of literature.

Anencephaly is a severe malformation of the central nervous system (CNS), being one of the most common types of neural tube defects. It is defined as total or partial absence of the calvarium, with absence of the brain. Anencephaly has an incidence of 1 to 5 in every 1000 births, and the mortality rate is 100% during intrauterine life or within hours or days after birth. The etiology of anencephaly remains unclear, but various maternal-related environmental and genetic risk factors have been reported, which include diabetes, obesity, exposure to different drugs or toxins, genetic polymorphisms and mutations, as well as positive family history for neural tube defects. One of the most important nutritional factors in the development of anencephaly is folate deficiency. Methylenetetrahydrofolate reductase (MTHFR) gene codes the enzyme involved in the intracellular metabolism of folic acid; the 677C-T polymorphism of this gene causes the thermolability of the enzyme and decreased enzymatic activity, which is also dependent of folate plasmatic level. Etiopathogenesis of anencephaly includes several mutations in various other genes, such as: platelet-derived growth factor receptor alpha (PDGFRA), cadherin epidermal growth factor (EGF) laminin G (LAG) seven-pass G-type receptor 1 (CELSR1), Vang-like 1 (VANGL1) and Vang-like 2 (VANGL2), the last two being involved in the process of neurulation. Screening tests include maternal serum alpha-fetoprotein level and ultrasound (US) examination. During the first trimester US screening, anencephaly is now detected in all cases, but in order to decrease the complication rate of pregnancy termination, the diagnosis should be established as soon as possible, during the pregnancy confirmation US. We conclude that given that anencephaly is a severe malformation of the CNS, morphological characterization could improve the screening by US that is mandatory in the first trimester in order to plan the best, safe and early management.

Neural tube defect diagnosis and outcomes at a tertiary South African hospital with intensive case ascertainment.

Neural tube defects (NTDs) are an important category of birth defect, but surveillance remains inadequate in South Africa. To assess the identification of NTDs at a tertiary hospital using a range of prenatal, perinatal and postnatal data sources, and to estimate the impact of prenatal diagnosis and birth prevalence for the referral area. Cases of anencephaly, encephalocele and spina bifida (SB) in a 6-year period were retrospectively identified from 5 data sources covering prenatal, perinatal and postnatal care. These were cross-correlated to avoid duplicate entries and to determine the contribution of different data sources. Details of prenatal diagnosis and termination of pregnancy (TOP) were obtained for 10 years, and birth prevalence over 2 years. During a 6-year period 195 NTDs were identified at a Western Cape Province tertiary hospital. These included 59 (30%) cases of anencephaly, 28 (14%) of encephalocele and 108 (55%) of SB. The majority of NTDs (71%) were detected prenatally, although SB was less commonly diagnosed prenatally than cranial defects (56% v. 88%; p<0.001). Of SB cases ascertained pre- or postnatally, 57% of patients were born alive and 50% discharged alive, but 72% of survivors had not been diagnosed prenatally. Women receiving prenatal diagnosis of any type of NTD before 24 weeks' gestation were nearly always offered TOP, and the majority accepted termination after non-directive counselling. For SB, later prenatal diagnosis was associated with much lower termination rates because the option was less often offered (51% v. 100%; p<0.001), and perhaps less often accepted (57% v. 78%; p=0.06). The estimated NTD birth prevalence for the referral area was 0.76 - 0.80 per 1 000 live births, but perhaps up to 1.18 per 1 000 when considering under-referral of lethal cranial lesions from rural areas. A substantial number of NTDs can be ascertained from a tertiary hospital environment if multiple data sources are used, even though adding data from the Perinatal Problem Identification Program for outlying health facilities increases detection of lethal defects. Hospital-based surveillance can be considered, especially for SB. Prenatal diagnosis was fairly common and pregnancy termination was often offered and accepted if detected before 24 weeks' gestation. A regional prenatal ultrasound programme, predominantly based in primary care but with ready access to a tertiary centre, can be quite effective, although limited or delayed access to prenatal diagnosis must be addressed.

Occipito-suboccipital neonatal giant encephalocele

Occipito-suboccipital neonatal giant encephalocele - IJASHNB- Print ISSN No: - 2581-5210 Online ISSN No:- 2581-5229 Article DOI No:- 10.18231/j.ijashnb.2019.006, IP Indian Journal of Anatomy and Surgery of Head, Neck and Brain-IP Indian J Anat Surg Head Neck Brain

Study of Neural Tube Defects at Al-Diwaniyah Province / Iraq

Background: The Neural tube defects NTDs refers to defect ocurr at birth resulting from defect in closure of the neural tube during early intra uterine life after conception; these anomalies are usually divided into cephalic and spinal forms. They include three main type , anencephaly, spina bifida and encephalocele , These NTDs are considered important causes of morbidity and mortality in infancy, childhood, and even young adulthood .
 Objective: The aim of study is to study the type and incidence of the neural tube defect and it is it is risk factors and other associated variable.
 Methods : This descriptive prospective study was carried on 120000 lived newborns from December 201 3 to December 2015 in al diwaniya teaching hospital , neurosurgical department and pediatrics hospital in al diwaniya province in south west Iraq ,the questionnaire include all the information's case were defined as women residing in the al diwaniya government , delivered live or still born with neural Tube defect . important feature related to the neonates and their parents like gender ,date of birth , type of neural tube defect ,father and mother age ,consanguineous marriage, drug take during pregnancy ,maternal diseases ,previous history of neural tube defect .
 
 RESULTS : During a period of three years 2013-2015, there were (120,768 total ) birth ; the number of total births registered during the 3 years was 41761 in 2013, 39353 in 2014, and 39652 in 2015 . Among this sample population,112 women had fetus or newborn with NTD ( 1.078 per 1000birth ), An encephaly {3 (2.7%)} , spina bifida {103(92%)}, Encephalocele{6(5.3%)} Meningocele {20(17.9%)},Meningomyelocele {76 (67.9%)}, myeloschiasis {7 (6.2%)}, The age of 112 women that her babies affected NTDs , 30(26.8%) had 16-25 years , 55 (49.1%) had 26-35 years while 27 (24.1%) had above 35 years .
 Conclusion: This study showed that folate deficiency are very important in reducing the NTDs occurrences consanguineous marriage is not important risk factor for NTDs.

A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly.

Neural tube defects (NTDs) affecting the brain (anencephaly) are lethal before or at birth, whereas lower spinal defects (spina bifida) may lead to lifelong neurological handicap. Collectively, NTDs rank among the most common birth defects worldwide. This study focuses on anencephaly, which despite having a similar frequency to spina bifida and being the most common type of NTD observed in mouse models, has had more limited inclusion in genetic studies. A genetic influence is strongly implicated in determining risk of NTDs and a molecular diagnosis is of fundamental importance to families both in terms of understanding the origin of the condition and for managing future pregnancies. Here we used a custom panel of 191 NTD candidate genes to screen 90 patients with cranial NTDs (n = 85 anencephaly and n = 5 craniorachischisis) with a targeted exome sequencing platform. After filtering and comparing to our in‐house control exome database (N = 509), we identified 397 rare variants (minor allele frequency, MAF < 1%), 21 of which were previously unreported and predicted damaging. This included 1 frameshift (PDGFRA), 2 stop‐gained (MAT1A; NOS2) and 18 missense variations. Together with evidence for oligogenic inheritance, this study provides new information on the possible genetic causation of anencephaly.

Prenatal folic acid use associated with decreased risk of myelomeningocele: A case-control study offers further support for folic acid fortification in Bangladesh.

Neural tube defects contribute to severe morbidity and mortality in children and adults; however, they are largely preventable through maternal intake of folic acid before and during early pregnancy. We examined the association between maternal prenatal folic acid supplement intake and risk of myelomeningocele (a severe and common type of neural tube defect) in the offspring. We performed secondary analysis using data from a case-control study conducted at Dhaka Community Hospital, Bangladesh between April and November of 2013. Cases and controls included children with and without myelomeningocele, respectively, and their mothers. Cases were identified from local hospitals and rural health clinics served by Dhaka Community Hospital. Controls were selected from pregnancy registries located in the same region as the cases, and matched (1:1) to cases by age and sex.Myelomeningocele in the offspring was confirmed by a pediatrician with expertise in classifying neural tube defects. Maternal prenatal folic acid supplement intake was the main exposure of interest. We estimated crude and adjusted odds ratios (OR) and 95% confidence intervals (CI) using conditional logistic regression analysis. There were 53 pairs of matched cases and controls in our study. Overall, 51% of case mothers reported using folic acid supplements during pregnancy compared to 72% of control mothers (p = 0.03). Median plasma folate concentrations at the time of study visit were 2.79 ng/mL and 2.86 ng/mL among case and control mothers, respectively (p = 0.85). Maternal prenatal folic acid use significantly decreased the odds of myelomeningocele in the offspring (unadjusted OR = 0.42, 95% CI = 0.18–0.96). The association was slightly attenuated after adjusting for maternal age at the time of pregnancy (adjusted OR = 0.43, 95% CI = 0.18–1.02). Our study confirms the protective association between maternal prenatal folic acid supplement use and myelomeningocele among children born in Bangladesh. Our findings point to an overall low folic acid supplement use and low plasma folate concentrations among women of reproductive age in Bangladesh. Mandatory fortification of staple foods with folic acid can address low folate status among women of child-bearing age, and prevent child morbidity and mortality associated with myelomeningocele in Bangladesh.

Follow up of meningomyelocele and associated hydrocephalus, bladder and/or bowel incontinence and foot deformity in a developing country

Background: Meningomyelocele (MMC) and meningocele (MC) are the two most common types of neural tube defects (NTD) seen. Some of the problems associated with care of these patients are psychological stress is parents, average financial condition of caretakers, ignorance on the part of parents, local physicians for management of this condition, very few dedicated Spina bifida clinics and social stigma associated with this condition. The aim of treatment of meningomyelocele is to the patients with maximum mobility and social continence which is possible through multidisciplinary care involving paediatric surgeon, paediatrician, nursing staff, occupational therapist, physiotherapist, social worker, parents and patients themselves. The aim of this study is to discuss our experience in initial management of meningomyelocele (MMC) and hydrocephalus and long-term management of bladder/bowel incontinence and foot deformity in a tertiary care hospital of a developing country.Methods: A retrospective nonrandomized observational study was conducted in the department of pediatric surgery at a tertiary hospital, from August 2008 to October 2015. Overall 145 patients of meningomyelocele were included in the study. Patients were managed according to our institution protocol.Results: 68.2% MMC patients were repaired primarily. 24.1% of total patients needed Y-V plasty skin advancement flap. 7.5% patients needed synthetic patch for dural closure. 24.1% patients were incontinent since birth. 19.3% patients had decreased lower limb power since birth. 5.5% patients were incontinent after MMC repair. 8.2% patients had decreased lower limb power after MMC repair. 28.9% patients needed VP shunt for gross hydrocephalus before MMC repair. 51.03% patients needed VP shunt after MMC repair. 20% patients did not require VP shunt in the present series. 13.1% patients in the present series had urinary incontinence. 11.03% patients had fecal incontinence. 73.6% patients with urinary incontinence were successfully managed with conservative treatment. 87.5% patients with fecal incontinence responded to conservative treatment. Bladder augmentation was done in 26.3% of neurogenic bladder dysfunction patients. 60% of these patients had dry interval of more than 4 hours. MACE was done in 12.5% of neurogenic bowel dysfunction patients. 2 patients required simultaneous bladder augmentation, Mitrofanoff’s and MACE procedure. One of these patients achieved a dry interval of &gt;4 hour.Conclusions: Successful rehabilitation of children with MMC can be achieved with parental education and support, dedicated clinicians, trained nursing staff, regular follow-up and low threshold for diagnosing clinical deterioration and proactive management to prevent further clinical deterioration.

CSF-Based Analysis for Identification of Potential Serum Biomarkers of Neural Tube Defects.

The protein composition of cerebrospinal fluid (CSF) in neural tube defects (NTDs) remains unknown. We investigated the protein composition of CSF from 9 infants with NTDs using isobaric tags for relative and absolute quantitation (iTRAQ). We identified 568 proteins in the CSF of infants with spina bifida, which is the most common type of NTD. Among these, 18 proteins were associated with neural tube closure in the CSF during human embryonic neurulation and 5 were involved in NTDs. Based on these results, an animal model was further utilized to investigate early serum biomarkers for NTDs. We found that the myristoylated alanine-rich C-kinase substrate, Kunitz-type protease inhibitor 2, and apolipoprotein B-100 protein levels were decreased in both embryos and the sera of pregnant Sprague-Dawley rats carrying embryos with NTDs. CSF proteins may be useful in the discovery of potential serum biomarkers for NTDs.

The role of intrauterine magnetic resonance in the management of myelomenigocele.

To assess the role of magnetic resonance imaging (MRI) in the management of myelomenigocele. Spinal dysraphism or neural tube defects (NTD) encompass a heterogeneous group of congenital spinal anomalies that result from the defective closure of the neural tube early in gestation. Myelomeningocele is the most common type of NTD that is compatible with life, with high survival rates but lifelong physical impairments. MRI is an important adjunct to ultrasound in assessing NTD, as it pertains to pre-surgical planning and perinatal management. However, it should not be considered a replacement for ultrasonography, which continues to be the gold standard for fetal anatomic evaluation.

Prevalence of neural tube defects in a rural area of north india from 2001 to 2014: A population-based survey.

Neural tube defects (NTDs) are one of the commonest birth defects. There was paucity of community-based data on occurrence of NTDs in India, especially from rural parts of the country. Against this background, the current study was carried out with main objectives to determine the prevalence of NTDs and its specific types (anencephaly, spina bifida and encephalocele) in a rural community setting over the time period 2001 to 2014. This was a community-based cross-sectional study carried out in 28 villages of Ballabgarh Tehsil of Faridabad district in north India (population ∼ 96,000). A household survey was undertaken by trained multi-purpose workers who enquired ever-married women about history of conception with outcome as NTD during the study period. The probable case of NTD was determined using a colored pictorial card with photographs of different types of NTDs. These cases were confirmed by doctors. A total of 26,946 live births occurred during the years 2001 to 2014. A total of 140 confirmed cases of NTDs were identified. The live birth prevalence of NTDs was 24.1 per 10,000 live births (95% confidence interval, 18.8-30.6). The birth prevalence of NTDs for the years 2008 to 2014 was 50.8 (95% confidence interval, 39.9-63.8) per 10,000 live and stillbirths. The most common type of NTD was found to be spina bifida followed by anencephaly and encephalocele. We found high prevalence of NTDs in rural community settings from north India for years 2001 to 2014.Birth Defects Research 109:203-210, 2017.© 2016 Wiley Periodicals, Inc.

Methotrexate and Valproic Acid Affect Early Neurogenesis of Human Amniotic Fluid Stem Cells from Myelomeningocele.

Myelomeningocele (MMC) is a severe type of neural tube defect (NTD), in which the backbone and spinal canal do not close completely during early embryonic development. This condition results in serious morbidity and increased mortality after birth. Folic acid significantly reduces, and conversely, folate antagonist methotrexate (MTX) and valproic acid (VPA) increase the occurrence of NTDs, including MMC. How these pharmacological agents exactly influence the early neurulation process is still largely unclear. Here, we characterized human amniotic fluid-derived stem cells (AFSCs) from prenatally diagnosed MMC and observed an effect of MTX and VPA administration on the early neural differentiation process. We found that MMC-derived AFSCs highly expressed early neural and radial glial genes that were negatively affected by MTX and VPA exposure. In conclusion, we setup a human cell model of MMC to study early neurogenesis and for drug screening purposes. We also proposed the detection of early neural gene expression in AFSCs as an additional MMC diagnostic tool.

Pattern and Management of Neural Tube Defect in Cameroon

Objectives: The aim of study was to determine the pattern and management of neural tube defects (NTD). Methodology: It was a hospital based descriptive cross-sectional retrospective study on patients who consulted and/or were admitted at the Douala General hospital for neural tube defects from January 2005 to April 2015. Results: A total of forty-nine (49) patients were enrolled. Males constituted 59.8% and females 40.2% giving a sex ratio of 1.5 in favour of males. Most of the parents of the patients (71.5%) had a low socio-economic status. Myelomeningocele was the most common type (80.4%) followed by 17.4% cases of meningocele and 2.2% cases of lipomeningocele. Three cases (3) of encephaloceles were seen during this period. The commonest site of these defects was the lumbosacral region (47.8%). Other sites included lumbar (19; 41.3%), sacral (3; 6.5%) and thoracolumbar (2; 4.3%) ones. About half of the patients (24; 48.9%) presented with ruptured lesions. Hydrocephalus was also recorded in 65.3% of patients. Talipes equinovarus and talipes calcaneovalgus were the most common associated orthopedic birth defects found. Surgical closure was done for 44 (89.9%) patients. Ventriculoperitoneal shunting was done in 78.1% of those who presented with hydrocephalus. Post-operative complications were more frequent in patients with ruptured lesions (P = 0.001). The most common post-operative complications were wound infections (22; 44.9%) and wound dehiscence (20; 40.8%). Conclusion: Lumbosacral Myelomeningocele was the most common type of NTD in our region. Low socio-economic status was a common risk factor.

Research: Prevalence of neural tube defects Khartoum, Sudan August 2014-July 2015.

Background Neural tube defects (NTDs) are birth defects that results from failure of the neural tube to develop properly during early pregnancy.Methods We studied the prevalence of neural tube defects in newborns admitted to the NICU in Soba University and Omdurman Maternity hospitals, during the period 1st August 2014 to 31st July 2015. A cross-sectional hospital based study, involved all newborns with any type of neural tube defect admitted to the NICU in the study area during the study period. Data was collected using a questionnaire reviewing the medical, social history and clinical examination.ResultsOut of the 36,785 delivered newborns during the study period, the prevalence of NTDs was 2.8:1000. Females were 56 (54.4%) predominated males 47 (45.6%). History of neural tube defects was found in 11 (10.7%) of the affected newborns siblings. Sixty-eight (66%) of the studied mothers received folic acid during pregnancy with the current child, of those who received folic acid 66 (97.1%) started folic acid after conception, 36 (54.5%) in the first trimester and 39 (57.4%) had no regular intake of the folic acid. The types of NTDs include myelomeningocele 49 (47.6%), anencephaly 18 (17.5%), encephalocele 14 (13.6%), myelomeningocele and hydrocephalus 11 (10.7%) and meningocele 8 (7.8%).ConclusionThe prevalence of neural tube defects is 2.8:1000. Myelomeningocele is the commonest encountered NTD. The use of preconception folic acid needs to be advocated.

Maternal Antenatal Bereavement and Neural Tube Defect in Live-Born Offspring: A Cohort Study.

BackgroundMaternal emotional stress during pregnancy has previously been associated with congenital neural malformations, but most studies are based on data collected retrospectively. The objective of our study was to investigate associations between antenatal maternal bereavement due to death of a close relative and neural tube defects (NTDs) in the offspring.MethodsWe performed a register-based cohort study including all live-born children (N = 1,734,190) from 1978–2008. Exposure was bereavement due to loss of a close relative from one year before conception to the end of the first trimester of pregnancy. The outcome was NTDs in the offspring according to the International Classification of Disease. We used multivariate logistic regression to estimate prevalence odds ratios (ORs).ResultsA total of 2% children were born to mothers who lost a close relative prenatally. During 30 years of follow-up, 1,115 children were diagnosed with any NTDs: spina bifida (n = 889), anencephaly (n = 85) and encephalocele (n = 164). And 23 children were diagnosed with two types of NTDs. Overall, when comparing bereaved mothers to non-bereaved mothers, no significant increased prevalence of NTDs in the offspring was seen (OR = 0.84; 95% confidence interval: 0.52–1.33).ConclusionOverall maternal bereavement in the antenatal period was not related to NTDs in liveborn offspring.

Giant occipital meningohydroencephalocele in an adult: Another historical case in neural tube defects

Meningohydroencephalocele is a herniation of meninges, cerebrospinal fluid, brain parenchyma and a part of the ventricular system through a bony defect in the skull. This bone defect may be congenital, spontaneous or traumatic in origin. The lesions are mostly congenital, discovered generally after birth or in very young infants. We report the first historical case of the entity in this location in a 29-year-old man and discuss the pathogenesis, surgical management and social considerations of this type of neural tube defect in our country.

Myelomeningocele - a single institute analysis of the years 2007 to 2015.

After the introduction of folate supplementation, the number of open spinal dysraphism was successfully reduced over time. In 2007, the department for pediatric neurosurgery was established in the children's hospital. Since then, newborns with myelomeningocele (MMC), the most common form of open neural tube defects (NTD), are treated here. The aim of this study is to present the concepts applied to and experiences resulting from treatment of MMC. Records of all newborns with MMC treated surgically during the period January 2007 to August 2015 in our institution were analyzed. Children, who were previously operated in utero were excluded. The type of neural tube defect, its location, associated comorbidities, and ambulation were recorded. Forty-eight children (25 males, 23 females) with spinal dysraphism were included in the analysis. In nearly 90% of the cases, the repair of the MMC was done on the day of delivery. The follow-up period ranges from 9weeks to 8 9/12years (loss of follow-up in 2 cases). In 19%, the defect remained undetected during gestation and in one case, carbamazepine was taken despite pregnancy. In 36 children (75%), we found a Chiari malformation type II (CMII) associated with myelomeningocele. 85.4% suffered from hydrocephalus and implantation of a shunt was necessary. In cases of bladder impairment, an intermittent catheterization was the most common management (83.3%); no bladder augmentation was required. Twelve children required orthopedic surgery. Twenty-three of 33 patients (70%) are ambulatory w/wo orthoses and devices. The 13 children who are younger than 2years were considered separately to assess the motor activity safely. Our data show that neural tube defects to this day can remain undetected despite medical care during pregnancy. The most common associated diseases with MMC are Chiari II malformations and hydrocephalus. In the seven cases of simultaneous repair of MMC with shunt implantation, no additional complications were encountered. An interdisciplinary approach was allowed in a high percentage independence and social continence.

Epidemiology of the neural tube defects in Kashmir Valley.

Background:Neural tube defects (NTDs) are the most common congenital malformations affecting the brain and spinal cord and have a multifactorial etiology. Genetic and environmental factors have been found to cause these defects, both individually and in combination.Methods:A 2-year hospital-based prospective study was carried out from November 2013 to October 2015 to determine the incidence, types, demographics, risk factors, and other associated anamolies relevant to NTDs in Kashmir Valley. A detailed history of the mother was taken along with detailed clinical examination of neonate including measurement of head circumference and checking the status of fontanella, whether lax/full/bulging/or tense, type of NTD. Investigations that were done included were X-ray skull: Anterior-posterior (AP) and lateral, X-ray spine: AP and lateral, ultrasonography abdomen, magnetic resonance imaging: Spine and brain.Results:The total number of babies with NTD's was 125 with an overall incidence of 0.503. Kupwara district was having the highest incidence (1.047) and Srinagar district the lowest incidence of NTD's (0.197). Majority of NTD's (116 cases, 92.8%) were found in the rural areas. Among the different types of NTD's, spina bifida had an incidence of 0.342 (85 cases, 68%) and anencephaly had an incidence of 0.113 (28 cases, 22.4%). There was a slight preponderance of females over males with NTD's. There were 70 females (56%) and 55 males (44%), respectively, with a male: female ratio of 0.8:1Conclusions:The incidence rates of NTDs is very high for Kashmir Valley. Geographical distribution of NTDs at this place confirms a relationship between the socioeconomic status, educational status, maternal too young or advanced age, and environmental factors for the development of a NTD. The results of this study point to the importance establishing a health policy to prevent NTD in Kashmir Valley.

Epidemiology of the neural tube defects in Kashmir Valley.

Introduction/Background:Neural tube defects (NTD) are the most common congenital malformations affecting the brain and spinal cord and have a multifactorial etiology. Genetic and environmental factors have been found to cause these defects, both individually and in combination.Aims and Objectives:The aim of this study was to determine the incidence, types, demographics, risk factors, and other associated anomalies relevant to NTDs in Kashmir Valley.Materials and Methods:A 2-year hospital-based prospective study was carried out from November 2013 to October 2015. A detailed history of the mother was taken along with detailed clinical examination of neonate including measurement of head circumference and checking the status of fontanella, whether - lax/full/bulging/or tense, type of NTD. Investigations that were done included were X-ray skull: Anteroposterior (AP) and lateral, X-ray spine: AP and lateral, ultrasonography abdomen, magnetic resonance imaging: Spine and brain.Results:The total number of babies with NTD's was 125 with an overall incidence of 0.503. District Kupwara was having the highest incidence (1.047) and district Srinagar the lowest incidence of NTD's (0.197). The majority of NTD's (116 cases, 92.8%) were found in the rural areas. Among the different types of NTD's, spina bifida had an incidence of 0.342 (85 cases, 68%), and anencephaly had an incidence of 0.113 (28 cases, 22.4%). There was a slight preponderance of females over males with NTD's. There were70 females (56%) and 55 males (44%) respectively with a male:female ratio of 0.8:1.Conclusions:The incidence rates of NTDs are very high for Kashmir Valley. Geographical distribution of NTDs at this place confirms a relationship between the socioeconomic status, educational status, maternal age and environmental factors for the development of an NTD. The results of this study point to the importance establishing a health policy to prevent NTDs in Kashmir Valley.

The prevalence of neural tube defects in North-West Nigeria

Background: Neural tube defects (NTDs) consist of a variety of central nervous system abnormalities, most of which result from a lack of closure of the neural tube. Aims and Objectives: The study aimed to determine the prevalence of NTDs among women delivering in the labor room suites of a tertiary health institution in North-Western Nigeria. Subjects and Methods: This was a 3-year prospective study carried out in the Department of Obstetrics and Gynecology in association with the Department of Pediatrics. All neonates delivered in the labor rooms were examined for NTDs soon after birth. Those diagnosed with NTDs were admitted into the special care baby unit for observation and documentation. Results: There were 10, 163 deliveries and NTDs were present in 22 cases, thus giving a prevalence of 2.2/1000 deliveries. The common types of NTDs were spina bifida 72.7% (16/22), anencephaly 22.7% (5/22), and encephalocele 4.6%. There was a preponderance of females, with a female to male ratio of 1.4:1. Hydrocephalus was the most common associated anomaly 36.4% (8/22). The mothers were mainly within the age range of 20-35 years 59.1% (13/16), parity 2 or more and of low-socioeconomic status. Diagnoses were made by antenatal ultrasonography 50% (11/22) and clinically (50%) after delivery. The perinatal mortality was 81.8% (18/22). Conclusion: The prevalence of NTDs in this study is in consistent with literature. Improvement in maternal nutrition and antenatal folate intake is recommended.

Paternal transmission of MTHFD1 G1958A variant predisposes to neural tube defects in the offspring.

This study aimed to evaluate the role of methylenetetrahydrofolate dehydrogenase (MTHFD1) G1958A variant (rs2236225) as a 'maternal, paternal, or embryonic' genetic risk factor for neural tube defect (NTD) susceptibility. It also estimated differential associations based on type of NTD, offspring sex, maternal-paternal-offspring genotype incompatibility, and parent-of-origin effects (POE) using both case-control and family-based approach. In addition, genotype impact on serum folate levels was also assessed. The study population (n=900) consisted of 120 NTD case-parent triads (n=120×3=360) and 180 healthy control-parent triads (n=180×3=540) from South India. Umbilical cord tissues were collected from those with NTD and control newborn infants, and blood samples from case and control parents. Genotyping was performed by polymerase chain reaction-restriction fragment length polymorphism. Statistical analysis used were SPSS, transmission disequilibrium test and POE. Serum folate levels were estimated using enzyme-linked immunosorbent assay. In the case-control study, those with the MTHFD1 G1958A variant were associated with around twofold risk of anencephaly (p=0.01) and spina bifida (p<0.01). Among parents, fathers were associated with around twofold risk of having an offspring with anencephaly (p<0.01). Considering offspring sex, the A allele in single or double dose conferred around two- to fourfold risk of anencephaly (p=0.01), spina bifida (p<0.01), and encephalocele (p<0.05) in females only. Maternal AA genotype was not associated independently but conferred threefold risk when combined with paternal GA genotype (p=0.01). Transmission disequilibrium and POE were not observed in controls (p>0.05) but revealed excess total (odds ratio [OR]=2.21; p<0.01) and paternal transmission (OR=7.00; p<0.01) of the G1958A allele to those with spina bifida, which remained the same for female cases (total transmission OR=3.00, p=0.01; paternal transmission OR=12.00, p<0.01). Increased serum folate levels were observed in case fathers with GA and AA genotypes than control fathers (p<0.01). Our research provides the first evidence supporting a paternal, rather than a maternal, transmission bias of MTHFD1 G1958A variant for NTD susceptibility in the offspring.