Type Of Neural Tube Defects Research Articles

Scribble Controls Social Motivation Behavior through the Regulation of the ERK/Mnk1 Pathway.

Social behavior is a basic domain affected by several neurodevelopmental disorders, including ASD and a heterogeneous set of neuropsychiatric disorders. The SCRIB gene that codes for the polarity protein SCRIBBLE has been identified as a risk gene for spina bifida, the most common type of neural tube defect, found at high frequencies in autistic patients, as well as other congenital anomalies. The deletions and mutations of the 8q24.3 region encompassing SCRIB are also associated with multisyndromic and rare disorders. Nonetheless, the potential link between SCRIB and relevant social phenotypes has not been fully investigated. Hence, we show that Scribcrc/+ mice, carrying a mutated version of Scrib, displayed reduced social motivation behavior and social habituation, while other behavioral domains were unaltered. Social deficits were associated with the upregulation of ERK phosphorylation, together with increased c-Fos activity. Importantly, the social alterations were rescued by both direct and indirect pERK inhibition. These results support a link between polarity genes, social behaviors and hippocampal functionality and suggest a role for SCRIB in the etiopathology of neurodevelopmental disorders. Furthermore, our data demonstrate the crucial role of the MAPK/ERK signaling pathway in underlying social motivation behavior, thus supporting its relevance as a therapeutic target.

Case series of Cranial and spinal dysraphism

Neural tube defects (NTDs) are the second most common cause of congenital anomaly worldwide (cardiac anomalies is the first). The 3rd and 4th week of gestation is the critical period for neural tube development. Multiple genetic and environmental factors are known to cause the NTDs in a developing embryo. We report here four cases of cranial and spinal dysraphism or craniorachischisis, the most severe and rare type of NTD with brief maternal history. In all these cases, the neural tissue is exposed in the region of brain as well as in the region of spinal cord to various extents. In this case series, the external features of craniorachischisis in four female fetuses (including monozygotic twins) are reported. One of the affected fetuses had associated omphalocele.

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

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

Expanding the Clinical Phenotype of FGFR1 Internal Tandem Duplication

Closed spinal dysraphism (SD) is a type of neural tube defect originating during early embryonic development whereby the neural tissue of the spinal defect remains covered by skin, often coinciding with markers of cutaneous stigmata. It is hypothesized that these events are caused by multifactorial processes, including genetic and environmental causes. We present an infant with a unique congenital midline lesion associated with a closed SD. Through comprehensive molecular profiling of the intraspinal lesion and contiguous skin lesion, an internal tandem duplication (ITD) of the kinase domain of the fibroblast growth factor receptor 1 (FGFR1) gene was found. This ITD variant is somatic mosaic in nature as supported by a diminished variant allele frequency in the lesional tissue and by its absence in peripheral blood. FGFR1 ITD results in constitutive activation of the receptor tyrosine kinase to promote cell growth, differentiation, and survival through RAS/MAPK signaling. Identification of FGFR1 ITD outside of central nervous system tumors is exceedingly rare, and this report broadens the phenotypic spectrum of somatic mosaic FGFR1-related disease.

Evaluation of Plasma Levels of Folic Acid and Homocysteine in Babies Born With Various Types of Neural Tube Defects: A Single Center Study in South India

Evaluation of Plasma Levels of Folic Acid and Homocysteine in Babies Born With Various Types of Neural Tube Defects: A Single Center Study in South India

Periconceptional folic acid use prevents both rare and common neural tube defects in China.

Neural tube defects (NTDs) encompass a variety of distinct types. We assessed if the preventive effect of folic acid (FA) varied by NTD type and infant sex. We examined all pregnancies with NTD status confirmation from a pregnancy-monitoring system in selected locations in northern and southern regions of China between 1993 and 1996. Women who took 400 μg of FA daily during 42 days after last menstrual period were considered FA users. We analyzed NTD prevalence by FA use status, NTD type, geographic region, and infant sex. Among 626,042 pregnancies, 700 were affected by an NTD. Among FA nonusers, 65 pregnancies (8.8 per 10,000) in the north and 51 pregnancies (1.2 per 10,000) in the south were affected by one of the two rare NTDs, that is, craniorachischisis, iniencephaly. FA use prevented occurrence of these two rare NTDs and reduced the prevalence of spina bifida (SB) by 78% (from 17.9 to 3.9 per 10,000) in the north and 51% (from 2.4 to 1.2 per 10,000) in the south. Among FA users, SB prevalence, including SB with high lesion level, was significantly reduced in both geographic regions. FA use reduced prevalence of anencephaly and encephalocele by 85% and 50%, respectively in the north, while it did not reduce the prevalence of these two NTDs in the south. There was a greater reduction in NTD prevalence in female than in male infants and fetuses. This is the first study to show that FA prevents the entire spectrum of NTD types.

Craniocerebral and Spinal Dysraphism with Omphalocele – A Case Report of Primary Neurulation Defect

Background: Anencephaly and Spina bifida are the two most common types of neural tube defects (NTDs). Disrupted formation and closure of neural folds leads to Craniocerebral and spinal dysraphisms. Materials and methods: An 18 week old foetus was received in the department of Anatomy after elective medical termination of pregnancy due to the diagnosis of neural tube defect and associated congenital anomalies. Case Report: The foetus had anencephaly, thoracic-lumbar spina bifida, omphlocele and clubbed foot and hands. The foetus was dissected and studied, to look for abnormal internal structures. On meticulous dissection it was found that there were abnormalities in spine, gastrointestinal system and cranium. Conclusion: Anencephaly is a neural tube defect which has multiple neural and non-neural associated anomalies. A detailed description of the combination of associated anomalies goes a long way in updating knowledge on the same. KEY WORDS: Anencephaly, spina bifida, omphalocele, folic acid, neural tube defects.

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

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

Prevalence of neural tube defects, maternal HIV status, and antiretroviral therapy from a hospital-based birth defect surveillance in Kampala, Uganda.

Background:The estimated prevalence of neural tube defects (NTDs) in Africa is 11.7 per 10,000 live births; however, data on the impact of antiretroviral therapy (ART) during pregnancy and the risk for birth defects in Africa are limited.Methods:Data from a hospital-based surveillance program at four hospitals in Kampala, Uganda were used to estimate the baseline prevalence of NTDs and assess potential associations with HIV status and ART use. All live births, stillbirths, and spontaneous abortions delivered at the participating hospitals affected with selected birth defects between August 2015 and December 2018 were included. Trained midwives collected data from hospital records, maternal interviews, photographs, and narrative descriptions of birth defects. We estimated NTD prevalence per 10,000 births (live, stillbirths, spontaneous abortions), prevalence ratios, and 95% confidence intervals (CIs).Results:A total of 110,752 births from 107,133 women were included in the analysis; 9,394 (8.8%) women were HIV-infected and among those with HIV infection, 95.6% (n = 8,977) were on ART at delivery. Overall, 109 births were affected with NTDs, giving a prevalence of 9.8 (95% CI [8.2, 11.9]). Spina bifida (n = 63) was the most common type of NTD, with a prevalence of 5.7 (95% CI [4.4, 7.3]), followed by anencephaly (n = 31), with a prevalence of 2.8 (95% CI [2.0, 4.0]).Conclusion:The prevalence of NTDs among births in Kampala, Uganda is consistent with current estimates for Africa. With the continued introduction of new medications that may be taken during pregnancy, sustainable birth defect surveillance systems and pharmacovigilance are indicated.

EARLY OUTCOME ANALYSIS OF NEURAL TUBE DEFECTS PRESENTING IN NEONATAL PERIOD: OUR EXPERIENCE

Background: Neural tube defects (NTDs) are congenital malformation resulting from failure of complete or partial closure of the neural tube in developing embryo. Aims and Objectives: The aim of this study is to present our experience, management and early outcomes (one month post-operatively) of neural tube defects presenting in neonatal period at our high volume tertiary care teaching Institutions. Materials and methods: This retrospective cohort study was conducted over a period of 10 years from January 2007 to December 2016. Medical records of neonates treated for neural tube defects were recorded in a pre-designed Performa. Results: A total of 286 patients with clinically diagnosed neural tube defects presenting in the neonatal period were studied. Male: female ratio was 1.11. The mean birth weight was 2350g. History of peri-conceptional use of folic acid was found in 15 (5.24%) mothers. One hundred seventeen (40.90%) of the patients had multiple system involvement. Most common was orthopedic deformities. Associated hydrocephalus was appreciated in 259 (90.56%) patients. Meningomyelocele was the most common anomaly seen in 239 (83.57%), 24 (8.39%) as meningocele and 23 (8.04%) were diagnosed as having Encephalocele. Surgery with decapping and repair was performed in 277 (96.85%) of the patients. Ventriculoperitoneal (VP) shunt operation before repair of meningomyelocele was performed in 9 (3.15%) patients, while in 19 (6.64%) patients, VP shunt operation was performed after the repair of NTD's in the early (one month) postoperative period. Clinical sepsis developed in the postoperative period in twenty one (7.58%) out of 277 patients, for which antibiotics were stepped up. Thirteen patients (4.69%) died postoperatively due to sepsis and associated anomalies. Conclusions: We present our retrospective report on neural tube defects from Indian subcontinent with accurate baseline data. Meningomyelocele was the most common type of NTD's. We recommend that folic acid supplementation should begin before marriage to raise its serum levels before the conception. Antenatal care especially antenatal ultrasonography must be contemplated as early as possible in early detection of NTDs.

Clinico-epidemiological profile and outcomes of babies with neural tube defects in a tertiary care center in Northern India

Introduction Neural tube defects constitute a major source of disability among children. Proper management requires accurate diagnosis, an assessment of the severity of the lesion, a decision whether intervention is warranted, the nature of the intervention, and educating the family of the need for lifelong medical care. But to do so, reliable data regarding presentation and outcome is very crucial. Aim of the study To discuss the clinical epidemiological profile and outcome of babies admitted with neural tube defects (NTDs). Material and methods Retrospective observational study was done by extracting data from case notes and follow-up files in Department of Neonatology, PGIMER and Dr. RML Hospital, New Delhi over a period from March 2015 to July 2020. Results A total of 25 babies were included in the study. Majority of babies were born to mother at a median age group of 24 (19–36) yrs and nearly one-third of them were illiterate. The history of maternal periconceptional folic acid intake was seen in only five babies (21%). Two third of babies were male (64%) and the median age at admission was at 9 (1–27) days of life. Majority of the cases were open types of NTDs with most common type being meningomyelocele (88%) followed by occipital encephalocele (12%) and there was one case of closed type of neural tube defect having lipomeningomyelocele (4%). The most common associated anomaly was hydrocephalus (76%) followed by Arnold chiari malformation (56%). Motor weakness in form of paraparesis or paraplegia was present in 21 (84%) babies and sensory deficit was present in 44% babies. Bowel and bladder dysfuntion was present in 48% of cases. Ventriculitis was the most common associated morbidity (38%). Meningomyelocele (MMC) repair was the most commonly performed primary surgery (33%) followed by Ventriculo-peritoneal (VP) shunt repair (24%). Twelve babies (48%) were discharged while 2 (8%) expired and 11 (44%) babies left against medical advice Conclusion Neural tube defect is a congenital disorder with significant morbidity. The clinical severity of the NTDs and the uncertainty in their cause makes this a priority for further research. National policies for prevention, in utero diagnosis, and early surgical intervention are required for a better prognosis.

Prenatal Neural Tube Anomalies: A Decade of Intrauterine Stem Cell Transplantation Using Advanced Tissue Engineering Methods

Neural tube defects (NTDs) are among the most common congenital defects during neurulation. Spina bifida is a type of NTD that can occur in different forms. Since myelomeningocele (MMC) is the most severe form of spina bifida, finding a satisfactory treatment for MMC is a gold standard for the treatment of spina bifida. The Management of Myelomeningocele Study (MOMS) demonstrated that intrauterine treatment of spina bifida could ameliorate the complications associated with spina bifida and would also reduce the placement of ventriculoperitoneal (VP) shunt by 50%. Recently developed tissue engineering (TE) approaches using scaffolds, stem cells, and growth factors allow treatment of the fetus with minimally invasive methods and promising outcomes. The application of novel patches with appropriate stem cells and growth factors leads to better coverage of the defect with fewer complications. These approaches with less invasive surgical procedures, even in animal models with similar characteristics as the human MMC defect, paves the way for the modern application of less invasive surgical methods. Significantly, the early detection of these problems and applying these approaches can increase the potential efficacy of MMC treatment with fewer complications. However, further studies should be conducted to find the most suitable scaffolds and stem cells, and their application should be evaluated in animal models. This review intends to discuss advanced TE methods for treating MMC and recent successes in increasing the efficacy of the treatment.

Further insights into unusual acrania-exencephaly-anencephaly sequence caused by amniotic band – first trimester fetoscopic correlation with two- and three-dimensional ultrasound

Abstract Objectives Antenatal detection of acrania-exencephaly-anencephaly (AEA) sequence beyond 10 completed weeks of gestation is usually straight-forward. An earlier detection and classification of the causative conditions prior to disaggregation of exposed dysplastic brain tissue remains challenging. Case presentation We present two- and three-dimensional ultrasound correlated with fetoscopic findings of an unusual type of neural tube defect at 11 gestational weeks caused by an amniotic constriction ring resulting in cystic degeneration of the developing skull. Conclusions By giving further illustrative insights into early defective brain development, this report confirms recent findings of an unusual subtype of acrania-exencephaly-anencephaly sequence suggesting early disruption of the developing brain, following an amniotic entrapment of the skull.

Split Cord Malformation: Our Experience

Background: Split cord malformation (SCM) is a rare form of neural tube defects. It belongs to closed type of neural tube defects. SCM constitutes around one-third of cases of spinal dysraphism. In SCM, there is a division in the spinal cord into two halves which may be equal or unequal.Objective: To analyse the clinical, radiological, intraoperative findings and surgical outcome of patients with SCM.Materials and Methods: This was a retrospective analysis of cases of SCM operated during 3-year period (2016–2019) in our institute. The data for the study were obtained from case records, operation notes, and radiology investigations.Results: There were 20 patients of spinal dysraphism in total, among which 6 cases were of SCM. All 6 cases were symptomatic with swelling in the back. Four had distal foot weakness, two had low backache, two had difficulty in walking, two had hypertrichosis, and one patient had foot deformity with trophic ulceration in the foot. Magnetic resonance imaging (MRI) revealed tethered cord in all 6 cases. Three had syringomyelia, three had lipomeningocele, and one case had intramedullary epidermoid. Computed tomography scan revealed bony spur in 4 cases. All patients underwent surgery.Conclusion: MRI is the investigation of choice and surgery is the treatment of choice. We have observed detethering done at the same sitting as that of the primary surgery has improved outcome. It also avoids the dilemma in attributing the postoperative neurological deficits if any, either to surgical complication or that due to tethered cord.

Acrania-Exencephaly-Anencephaly Sequence on Antenatal Scans

Acrania-Exencephaly-Anencephaly sequence is the progression from an absent cranial vault (acrania) showing relatively normal appearing exposed brain (exencephaly) to no recognisable brain parenchymal tissue (anencephaly). The study presents different cases of acrania, exencephaly and anencephaly along with their imaging features on Two Dimensional (2D) Ultrasonography (US) and additional benefits of using Three Dimensional (3D)/Four Dimensional (4D) ultrasonography to aid in the diagnosis. Over a span of one year, seven patients with abnormal foetuses were scanned during the first trimester or at 18-20 weeks of gestation using both 2D and 3D/4D volumetric probes. The International Society of Ultrasound in Obstetrics and Gynaecology (ISUOG) practice guidelines were adopted for appropriateness. Specific imaging features seen on 2D US helps early diagnosis and high detection rate of this rare type of Neural Tube Defect (NTD) malformation. A 3D/4D US can also detect foetal acrania, exencephaly and anencephaly as early as 2D scan and in addition can illustrate findings with different modes of reconstruction, which 2D US cannot. Hence, 3D/4D US may contribute to early detection of foetal acrania-exencephaly-anencephaly sequence.

The Frequency and Distribution of Neural Tube Defects (NTDs) at Arthur Davison Children Hospital (ADCH), Ndola Zambia

<i>Summary/Abstract Background</i>: Neural tube defects (NTDs) are one of the commonest malformations with worldwide prevalence of 1-3 per1000 live births. They are resulted by failure of neural tube to close during neurulation in 21-28 embryonic days and it’s a multi-factorial in etiology. Currently in Zambia there is no published data regarding NTDs at Arthur Davison Children Hospital (ADCH). Therefore this study was used to assess the frequency and distribution of NTDs at ADCH and will serve as base line reference for further studies. <i>Method</i>: A descriptive retrospective study was conducted to review medical records of children aged 1 day to 5 years who attended ADCH between September 2018 and May 2020. <i>Results</i>: During the study period, there were 2365 patients admitted at the health institution. NTDs were present in 52 cases, giving a prevalence of 0.022 thus 22/1000 births congenital anomalies of this kind observed at the institution were identified from October 2018 to May 2020 patients’ registers, which constituted the study sample. The sample had more boys (61.5%) than girls (38.5%) female with the majority (78.8%) aged between one day to twenty-eight days. The Majority of the children were from Copperbelt province with 88.5%, while the minority were from Muchinga province (1.9%). However the majority of children were from Ndola district (61.5%) and the minority from Mpika district (1.9%). The study showed that many children (96.2%) presented with Spinal Bifida (SB) and lastly encephalocele (3.8%). Myelomeningocele was the most common type of SB (21.2%). Hydrocephalus was the most common associated anomaly (19.2%) while the least associated anomaly was Microcephaly (3.8). <i>Conclusion</i>: The study showed that the majority of children were from Ndola district on the Copperbelt province and most children were admitted between day one and twenty eight days after birth. SB was the most common type of NTDs, and among these, those with myelomeningocele were the majority. Hydrocephalus was the most common associated impairment with majority of patients not undergoing any surgical interventions.

Neural Tube Defects and Associated Anomalies before and after Folic Acid Fortification

To examine the prevalence and types of neural tube defects and the types of anomalies co-occurring with neural tube defects in 6years before fortification of cereal grain flour with folic acid (1992-1998) and 20years after fortification (1999-2018) in South Carolina, a state with a historically high prevalence of these birth defects. The prevalence of neural tube defects was determined by active and passive surveillance methods in South Carolina since 1992. The types of neural tube defects and co-occurring malformations were determined by prenatal ultrasound and post-delivery examination. In the 6 prefortification years, 363 neural tube defects were identified among 279 163 live births and fetal deaths (1/769), 305 (84%) of which were isolated defects of the calvaria or spine. In the 20 fortification years, there were significant reductions in the prevalence and percentage of isolated defects: 938 neural tube defects were identified among 1 165 134 live births and fetal deaths (1/1242), 696 (74.2%) of which were isolated. The current prevalence of neural tube defects in South Carolina (0.56/1000 live births and fetal deaths) is comparable with that nationwide. The continued occurrence of neural tube defects, the majority of which are isolated, after folic acid fortification of cereal grain flours suggests that additional prevention measures are necessary to reduce further the prevalence of these serious defects of the brain and spine.

CERVICAL MENINGOCELE IN A NEWBORN: A CASE REPORT

Aims: Neural tube defects are among the most common congenital anomalies worldwide, with a wide range of subtypes. The aim of this case report is to present a patient with cervical meningocele, a rare type of neural tube defect. Case Report: A 33-year-old pregnant woman with a story of bearing an anencephalic baby was referred to Trakya University Hospital with a probable cystic hygroma diagnosis on the 31st week of pregnancy. An antenatal ultrasound revealed a protrusion on the posterior cervical regi- on. Two days before the planned delivery, fetal magnetic resonance imaging was performed by the decision of the council. The 61 x 37 millimeters cyst was planned to be removed upon birth. On the 38th week, the baby was delivered by cesarean section with no other complications. After a preoperative magnetic resonance imaging, surgical procedure including the excision of the cyst and the duroplasty was performed. Conclusion: A rare and devastating congenital anomaly, cervical meningocele, requires accurate diagnosis and prompt surgical involvement for effective treatment and good prognosis.

Prevalence of Neural tube defects at PUMHS Hospital.

Introduction: Spina bifida, anencephaly, and encephalocele are neural tube defects (NTD) and result from failure of closure of the neural tube between 21and 28 days following conception. Encephaloceles are possibly post-closure defects. NTDs are an important cause of mortality and morbidity globally. NTD encompasses about one-tenth of the burden of all congenital conditions and make up the third largest congenital burden after congenital heart disease and Down’s syndrome. In low income countries, NTDs may account for 29% of neonatal deaths in observable birth defects&#x0D; Objective: To know the prevalence of neural tube defects at PUMHS Benazirabad..&#x0D; Methodology: All pregnant ladies when diagnosed to have fetus with neural tube defect through ultrasound examination were counselled for termination of pregnancy. Data collected through proforma with details of demography, gynecological history, and type of neural tube defect evaluated by senior gynecologist and neonatologist. NTDs were defined as cases of anencephaly, spina bifida, encephalocele and meningocele among infants of any gestational age.&#x0D; Results: A total of 7152 deliveries took place in the obstetrics department of PUMHS Hospital from January 2018 to September 2019. 38 (thirty-eight) pregnancies were terminated at different gestational ages, diagnosed as cases of neural tube defects, making a prevalence of 5.313 per 1000 births. Among the NT defects, 22/38 (57.89%) were anencephaly and 12/38 (31.57%) were spina bifida with hydrocephalus.&#x0D; Conclusion: The most common neural tube defect is anencephaly followed by spina bifida with hydrocephalus. Overall prevalence of NTD is comparable published literature from South East Asia.&#x0D; &#x0D; Keywords: Neural tube defects, Anencephaly, Spina bifida, Hydrocephalus.&#x0D;

Therapeutic potential of adenovirus-encoding brain-derived neurotrophic factor for spina bifida aperta by intra-amniotic delivery in a rat model.

Spina bifida aperta is a type of neural tube defect (NTD). Although prenatal fetal surgery has been an available and effective treatment for it, the neurological functional recovery is still need to be enhanced. Our previous results revealed that deficiencies of sensory, motor, and parasympathetic neurons were primary anomalies that occurred with the spinal malformation. Therefore, we emphasized that nerve regeneration is critical for NTD therapy. We delivered an adenoviral construct containing genes inserted for green fluorescent protein and brain-derived neurotrophic factor (Ad-GFP-BDNF) into the amniotic fluid to investigate its prenatal therapeutic potential for rat fetuses with spina bifida aperta. Using immunofluorescence, TdT-mediated dUTP nick-end labeling staining, and real-time polymerase chain reaction analysis, we assessed cell apoptosis in the defective spinal cord and Brn3a positive neuron survival in the dorsal root ganglion (DRG); a protein array was used to investigate the microenvironmental changes of the amniotic fluid. We found that most of the overexpressed BDNF was present on the lesions of the spina bifida fetuses, the number of apoptosis cells in Ad-GFP-BDNF-transfected spinal cords were reduced, mRNA levels of Bcl2/Bax were upregulated and Casp3 were downregulated compared with the controls, the proportion of Brn3a positive neurons in DRG were increased by activating the BDNF/TrkB/Akt signaling pathway, and most of the significant changes in cytokines in the amniotic fluid were related to the biological processes of regulation of apoptotic process and generation of neurons. These results suggest that intra-amniotic Ad-GFP-BDNF gene delivery might have potential as a supplementary approach to treat congenital malformations of neural tubes.