Common Neural Tube Defects Research Articles

Gestational Diabetes in Women with Fetal Spina Bifida Repair-Influence of Perioperative Management.

Background/Objectives: Fetal spina bifida (fSB) is the most common neural tube defect, and intrauterine repair has become a valid treatment option for selected cases. If fSB repair is offered, the ideal time for surgery is from 24 to 26 gestational weeks (GWs). The preoperative steroids for lung maturation and preoperative tocolytics that are administered are known to increase the prevalence of gestational diabetes (GD), which normally occurs in about 10-15% of all pregnant women. This study assessed the prevalence, possible influencing factors, and consequences on the course of pregnancy regarding GD in this cohort. Methods: Between 2010 and 2022, 184 fSB cases were operated. Those patients operated on after 24 0/7 GWs received steroids before surgery. All the patients received tocolysis, and an oral glucose tolerance test was performed between 26 and 28 GWs at least 7 days after steroid administration. In 2020, we established an early postoperative mobilization protocol. The perioperative management procedures of those patients with and without GD were compared to each other, and also, the patients treated according to the early mobilization protocol were compared to the remaining cohort. Results: Nineteen percent were diagnosed with GD. Corticosteroids were administered in 92%. Neither the corticoid administration nor the interval between the administration and glucose tolerance test was different in patients with or without GD. Further, 99.5% received postoperative tocolytics for at least 48 h. The women with GD had significantly longer administration of tocolytics. The length of stay (LOS) was higher in those patients with GD. The gestational age (GA) at delivery was significantly lower in the cohort with GD. In the early mobilized group, we found a significantly higher GA at delivery (37.1 GWs vs. 36.2 GWs, p = 0.009) and shorter LOS (p < 0.001), and their GD rate was lower (10% vs. 20%), although not statistically significant. Conclusions: The GD incidence in the women after fSB repair was higher than in the usual pregnant population. Early mobilization, rapid tocolytics decrease, and shorter LOS could benefit the pregnancy course after fSB repair and may decrease the risk for GD in this already high-risk cohort without increasing the risk for preterm delivery.

Neurosurgical management of Myelomeningocele in premature infants: a case series

IntroductionMyelomeningocele (MMC) is the most common neural tube defect, but rarely seen in premature infants. Most centers advocate for closure of MMC within 24 h of birth. However, this is not always possible in severely premature infants. Given the rarity of this patient population, we aimed to share our institutional experience and outcomes of severely premature infants with MMC.MethodsWe performed a retrospective, observational review of premature infants (≤ 32 weeks gestational age) identified through our multidisciplinary spina bifida clinic (1995–2021) and surgical logs. Descriptive statistics were compiled about this sample including timing of MMC closure and incidence of adverse events such as sepsis, CSF diversion, meningitis, and death.ResultsEight patients were identified (50% male) with MMC who were born ≤ 32 weeks gestational age. Mean gestational age of the population was 27.3 weeks (SD 3.5). Median time to MMC closure was 1.5 days (IQR = 1—80.8). Five patients were taken for surgery within the recommended 48 h of birth; 2 patients underwent significantly delayed closure (107 and 139 days); and one patient’s defect epithelized without surgical intervention. Six of eight patients required permanent cerebrospinal fluid (CSF) diversion (2 patients were treated with ventriculoperitoneal shunting (VPS), three were treated with endoscopic third ventriculostomy (ETV) with choroid plexus cauterization (CPC) and 1 patient treated with ETV; mean of 3 years after birth, ranging from 1 day to 16 years). Two patients required more than one permanent CSF diversion procedure. Two patients developed sepsis (defined as meeting at least 2/4 SIRS criteria). In both cases of sepsis, patients developed signs and symptoms more than 72 h after birth. Notably, both instances of sepsis occurred unrelated to operative intervention as they occurred before permanent MMC closure. Two patients had intraventricular hemorrhage (both grade III). No patients developed meningitis (defined as positive CSF cultures) prior to MMC closure. Median follow up duration was 9.7 years. During this time epoch, 3 patients died: Two before 2 years of age of causes unrelated to surgical intervention. One of the two patients with grade III IVH died within 24 h of MMC closure.ConclusionsIn our institutional experience with premature infants with MMC, some patients underwent delayed MMC closure. The overall rate of meningitis, sepsis, and mortality for preterm children with MMC was similar to MMC patients born at term.

Anomalies of the Mesenchyme (Meninges and Skull)—Defects of Neural Tube Closure: Cephalocele and Other Calvarial and Skull Base Defects; Intracranial Lipomas; Arachnoid Cysts; Nonsyndromic and Syndromic Craniosynostoses

AbstractWithin the embryonic head, a layer of mesenchyme envelops the brain beneath the surface ectoderm. This cranial mesenchyme is responsible for the formation of the meninges, the calvaria (upper portion of the skull), and the scalp's dermis. Irregular development of these structures, particularly the meninges and the calvaria, is associated with notable congenital defects in humans, such as defects in neural tube closure. Anencephaly is the most common neural tube defect (NTD) and one of the most severe malformations of the central nervous system; it consists in the complete or partial absence of the brain, associated with the absence of the bones of the cranial vault. Iniencephaly is an uncommon congenital NTD characterized by abnormalities in the occipital region, including rachischisis of the cervicothoracic spine and a fixed retroflexion deformity of the head. Unlike anencephaly, in iniencephaly, there is a skull cavity and a normal-looking skin that entirely covers the head and the medullary retroflex area. Cephaloceles are congenital abnormalities distinguished by the protrusion of meninges and/or brain tissue through a naturally occurring defect in the skull bone. This anomaly is typically covered by skin or mucous membrane. Intracranial lipoma is a relatively uncommon and generally benign tumor that occurs in an abnormal location within the brain; it probably represents a disturbance of the differentiation of the primordial meninges: for unknown causes, the meningeal mesenchyme can differentiate into adipose tissue. Arachnoid cysts are sacs filled with cerebrospinal fluid (CSF) situated between the brain or spinal cord and the arachnoid membrane. Typically, these cysts originate within CSF cisterns and gradually expand their boundaries. Craniosynostosis is the early fusion of one or more cranial sutures. It can occur spontaneously, be associated with a syndrome, or have a familial connection. It can involve one or multiple cranial sutures. Pfeiffer's, Crouzon's, and Apert's syndromes are among the more prevalent syndromic craniosynostoses.

Incidence of neural tube defects and associated anomalies in a tertiary care hospital

Abstract Background: Neural tube defects (NTDs) are the second most common congenital malformations after cardiac anomalies. The rate of associated malformation is reported to be 17%–80%. NTDs could also be a component of syndromic process. Objective: The objective of the study was to study the incidence of NTDs and associated anomalies. Methods: A hospital-based observational study was carried out among 6934 pregnant women referred for ultrasound. Pregnant women with NTDs were included. Detailed maternal history and clinical data were recorded. All ultrasound examinations were performed transabdominally by a radiologist using a 1–5 MHz convex array transducer (Voluson S8). Results: During this period of study, a total of 6934 pregnant women were screened and 47 cases of NTDs were detected and included, giving an incidence of 6.7 in 1000 conceptions (95% confidence interval = 5.02–8.92). NTDs were more common in mothers of age group 20–30 years. Spina bifida was the most common type of NTD in 53% of the cases. The most common type of spina bifida was meningomyelocele in 56%. The most common associated central nervous system (CNS) anomaly was Chiari II malformation. Conclusion: The most common NTD was spina bifida. CNS anomalies are more commonly associated with NTDs, followed by extremity defects.

'And then there was silence': shaping practice through the experience of parents' emotions.

Spina bifida, the most common Neural Tube Defect occurring around 28 days following conception, is often discovered in a routine ultrasound examination. Nurses offer continuous support for families who care for children with disabilities, associated with this diagnosis. To articulate and analyse parents' recollection of the emotions they experienced when they were informed by professionals that their unborn baby may have neurological disabilities. Qualitative study, using participatory visual narrative method, engaging parents caring for young children with Spina bifida. The emotions parents described, surfacing at the point of diagnosis, and the crafted stories they shared, demonstrated the significance and the long-lasting impact of their experience. Disclosing sensitive information and the way it is shared has a significant role in shaping how families adjust to caring for disabled children. Role and care transitions of parents who choose to keep their babies, despite their impending disability, is a lengthy and complex process. Nurses should be aware of and informed by the origin story, to offer appropriate support throughout this period. Policies to promote integration with services delivered by 'not for profit' organisations will benefit family-focused and person-centred care.

Profiles of patients with myelomeningocele admitted to the neonatal unit at Universitas Academic Hospital in Bloemfontein, South Africa

&#x0D; &#x0D; &#x0D; &#x0D; Background. Myelomeningocele (MMC) is a common neural tube defect with significant sequelae. There are limited recent data on the mortality and morbidity of MMC in South Africa (SA).&#x0D; Objective. To describe the outcomes and characteristics of patients with MMC admitted to the neonatal unit at Universitas Academic Hospital (UAH) in Bloemfontein, SA.&#x0D; Methods. A retrospective, descriptive study which included 53 patients with MMC admitted to the neonatal unit between 1 January 2017 and 31 December 2019 was conducted. Electronic patient records were reviewed. Data included outcomes, length of stay, complications and maternal and infant characteristics.&#x0D; Results. The inpatient mortality rate was 11.3% (n=6/53). The median length of stay was 18 days. Notable MMC complications included hydrocephalus (88.7%; n=47/53), Chiari malformation type II (44.7%; n=21/47), lower-limb paralysis (84.9%; n=45/53), lower-limb deformities (60.4%; n=32/53), meningitis (52.8%; n=28/53), neuropathic bladder (37.7%; n=20/53) and loss of anal tone (41.5%; n=22/53). MMC repair was performed in 62.2% (n=33/53) and 27.3% (n=9/33) developed complications. Wound sepsis and breakdown were the most common complications (18.2%, n=6/33), with a median 8 days to complications. Antenatal sonar was not performed in 62% (n=31/50) of cases. MMC was detected antenatally in 20% of cases.&#x0D; Conclusion. The inpatient mortality rate in thisstudy was lower than the mortality rates reported in other low- and middle-income countries although significant morbidity was identified. A lack of quality antenatal care and access to antenatal sonars were barriers to early detection of MMC. Other healthcare system infrastructural failures may be contributory, which highlights the need for ongoing inter- sectoral collaboration for prevention, early detection and management of MMC to improve patient outcomes.&#x0D; &#x0D; &#x0D; &#x0D;

Post-operative cerebrospinal fluid leak: single-continuous versus double-breasted dural repair of myelomeningocele

BackgroundMyelomeningocele is the most common neural tube defect in our environment. Initial surgical management involves untethering and water-tight dural closure. Single-continuous dural repair is more straightforward and faster than the double-breasted repair, even though the latter offers more strength to the reconstructed dura as the repair is in two layers. Preference was given to single-continuous repair even though the two techniques were not compared in terms of post-operative cerebrospinal fluid leak. The aim of this study was to compare the frequency of cerebrospinal fluid (CSF) leak following single-continuous versus double-breasted dural repair of myelomeningocele.Patients and methodsThis was a randomized prospective study that reviewed all patients that presented to Usmanu Danfodiyo University Teaching Hospital (UDUTH) Sokoto, Nigeria, with myelomeningocele who met the inclusion criteria. Fifty-four patients were enrolled into the study randomized into two groups of 27 patients each. Group 1 had single-continuous repair, while group 2 had double-breasted technique. Post-operatively, patients were assessed for post-operative cerebrospinal fluid leak and pseudomeningocele. Data collected were analysed using the statistical package for social sciences version 22.0. The value for significance was set at 0.05.ResultsThe median age at presentation for both groups was 5 months. Both groups showed female preponderance with a female-to-male ratio of 1.3:1 and 1.7:1. Post-operative CSF leak occurred in 2(7.4%) patients in the single-continuous group compared to 3(11.1%) patients in the double-breasted group. Only 1(3.7%) patient in the single-continuous group developed pseudomeningocele and none in the double-breasted.ConclusionDural repair technique of myelomeningocele does not influence the occurrence of post-operative cerebrospinal fluid leak.

Closure of Giant Dorsal Lumbosacral Myelomeningocele in Children Using Double Expanded Flaps: A Case Report and Literature Review.

Myelomeningocele (MMC) is the most common neural tube defect that can occur due to neural tube's failure to fuse properly during embryonic life. To prevent this, expanded flaps can be used for closure of large MMCs. A 4-year and 6-month girl was diagnosed with multiple congenital anomalies including hydrocephalus, dorsal lumbosacral MMC, and congenital tethered cord syndrome. Preoperative evaluation showed no lower limb movements and the size of the sacrococcygeal region was about 10cm × 8cm × 15cm mass, prominent thoracic kyphosis, and no obvious urogenital or limb anomalies. The large dorsal lumbosacral MMC was treated with a double expanded flap to reconstruct, the soft tissue defect following the neurosurgical reconstruction. The expanded flap was deemed as viable as all wounds were healed without any complications, such as dehiscence, leakage of cerebrospinal fluid, or infection. The technique described in the case report offers an effective method of closure. This flap can be an effective method for reconstruction of large dorsal lumbosacral MMC defects that might improve outcomes and minimize complications. It also ensures minimal wound tension and breakdown.

Spina bifida in the pediatric surgery Department of Fez

Introduction: Spina bifida is one of the most common neural tube defects due to its serious repercussions: neurologic, urologic, orthopaedic and others to varying degrees requiring multidisciplinary management. Patients and methods: This is a retrospective descriptive study of 202 patients managed in the pediatric surgery department of the Hassan II University Hospital of Fez, during an 8-year period from January 2014 to January 2021. Results: The annual incidence of spina bifida was 40 cases/year with a male predominance. The main site of the malformation is at the lumbar and lumbodorsal level in 68%. The clinical examination was abnormal in almost 64%. Hydrocephalus was found in 83%. Transfontanellar ultrasound and CT scan were performed in all our patients, MRI in 85 %. All the patients had a surgical cure of the spina bifida, the patients with hydrocephalus had a ventriculo-peritoneal shunt. The short term outcome was good in 79%. Conclusion: Spina bifida is a serious pathology, it can frequently lead to functional and vital prognosis without forgetting the psychological one. The prognosis is mainly generated by the delay of management and the presence of associated complications.

Transitioning care for adolescents with spina bifida in the US: challenges for management.

Open spina bifida (OSB) is a common neural tube defect. Medical and surgical care involves addressing the baseline orthopedic, urologic, and neurological dysfunction as well as the changes or declines that may occur as the patient ages. Given the complexity of this disease, coordinated, multidisciplinary care involving specialists in neurosurgery, orthopedics, urology, rehabilitation and physical medicine, pediatrics, and psychology is necessary to establish and optimize baseline function. Traditionally in the US, pediatric multispecialty spina bifida clinics have provided the patient with a coordinated medical support system. Unfortunately, this coordinated, medical home has been difficult to establish during the transition from pediatric to adult care. Medical professionals must have a strong understanding of OSB to properly manage the disease and detect and prevent associated complications. In this manuscript, we (1) describe the changing needs and challenges of people living with OSB over a lifespan, (2) delineate current practices in the transition of care for people with OSB from childhood to adulthood, and (3) provide recommendations for best practices in navigating the transition process for clinicians who provide care for those afflicted with this most complex congenital abnormality of the nervous system compatible with long term survival.

Risk factors for shunting at 12months following open fetal repair of spina bifida by mini-hysterotomy.

Open spina bifida (OSB) is the most common neural tube defect. Prenatal repair reduces the need for ventriculoperitoneal shunting (VPS) due to hydrocephalus from 80-90% to 40-50%. We aimed to determine which variables work as risk factors for VPS at 12months of age in our population. Thirty-nine patients underwent prenatal repair of OSB by mini-hysterotomy. The main outcome was occurrence of VPS in the first 12months of life. Logistic regression was used to estimate the odds ratios (OR) between prenatal variables and the need for shunting. VPS at 12months occurred in 34.2% of the children. Larger ventricle size before surgery (62.5% ≥15mm; 46.2% between 12 and 15mm; 11.8% <12mm; p=0.008), higher lesion level (80% >L2, vs. 17.9%≤L3; p=0.002; OR, 18.4 [2.96-114.30]), and later gestational age at surgery (25.25±1.18 vs. 24.37±1.06weeks; p=0.036; OR, 2.23 [1.05-4.74]) were related to increased need for shunting. In the multivariate analysis, larger ventricle size before surgery (≥15mm vs. <12mm; p=0.046; OR, 1.35 [1.01-1.82]) and higher lesion level (>L2 vs.≤L3; p=0.004; OR, 39.52 [3.25-480.69]) were risk factors for shunting. Larger ventricle size before surgery (≥15mm) and higher lesion level (>L2) are independent risk factors for VPS at 12months of age in fetuses undergoing prenatal repair of OSB by mini-hysterotomy in the studied population.

Local conceptions of the role of folate in neural tube defects in Zambia.

In sub-Saharan Africa, neural tube defects (NTDs) are the second most common birth defect, occurring eight times more frequently than in the US. The objective of this study was to assess baseline Zambian caregiver understanding of folate and NTDs and the effectiveness of an NTD prevention educational program. This prospective survey-based study included Zambian caregivers of children born with NTDs who completed pre- and post-educational program surveys between January 2020 and January 2021. The verbal survey was administered in English or local Zambian dialects. The 1-hour educational program administered by local Zambian research nurses sought to facilitate understanding of the direct relationship between prenatal folate supplementation and NTDs. Sixty-one eligible caregivers with a median age of 20 (IQR 24-29) years completed the survey. Participants were predominantly from regions outside of Lusaka Province (68%, 41/60) rather than the capital city, Lusaka (32%, 19/60). Most had received prenatal care (91%, 57/61), and 80% (47/59) reported folate use in pregnancy. Of the mothers who took folate during pregnancy, 24% (11/45) reported use within the first 4 weeks after conception, while 76% (34/45) started thereafter. Myelomeningocele was the most common NTD (74%, 32/43), followed by meningocele (14%, 6/43). Prior to the educational program, 52% (29/56) of caregivers reported that NTDs were caused by a vitamin deficiency, which improved to 98% (55/56) after the program (p < 0.001). Furthermore, only 54% (33/61) of caregivers believed that folate should be taken before conception on the baseline survey evaluation, which improved to 95% (58/61, p < 0.001) after the program. All survey participants (58/58) found the educational session helpful. This study found that a high proportion of Zambian caregivers had received prenatal care and even had taken folate during pregnancy, but none had taken it prior to pregnancy. An educational program effectively improved understanding about the role and timing of perinatal folate administration in NTD prevention. This result also emphasizes the need for folate fortification and folate education for not only mothers but also primary care providers.

Intra-amniotic mesenchymal stem cell therapy improves the amniotic fluid microenvironment in rat spina bifida aperta fetuses.

Spina bifida aperta (SBA) is one of the most common neural tube defects. Neural injury in SBA occurs in two stages involving failed neural tube closure and progressive degeneration through contact with the amniotic fluid. We previously suggested that intra-amniotic bone marrow-derived mesenchymal stem cell (BMSC) therapy for fetal rat SBA could achieve beneficial functional recovery through lesion-specific differentiation. The aim of this study is to examine whether the amniotic fluid microenvironment can be improved by intra-amniotic BMSC transplantation. The intra-amniotic BMSC injection was performed using in vivo rat fetal SBA models. The various cytokine expressions in rat amniotic fluid were screened by protein microassays. Intervention experiments were used to study the function of differentially expressed cytokines. A total of 32 cytokines showed significant upregulated expression in the BMSC-injected amniotic fluid. We focused on Activin A, NGF, BDNF, CNTF, and CXCR4. Intervention experiments showed that the upregulated Activin A, NGF, BDNF, and CNTF could inhibit apoptosis and promote synaptic development in fetal spinal cords. Inhibiting the activity of these factors weakened the anti-apoptotic and pro-differentiation effects of transplanted BMSCs. Inhibition of CXCR4 activity reduced the engraftment rate of BMSCs in SBA fetuses. BMSC transplantation can improve the amniotic fluid environment, and this is beneficial for SBA repair.

Global prevalence of congenital anencephaly: a comprehensive systematic review and meta-analysis

BackgroundAnencephaly is a fatal congenital anomaly characterized by the absence of brain hemispheres and cranial arch. Timely preventive measures can be taken by knowing the exact prevalence of this common neural tube defect; thus, carried out through systematic review and meta-analysis, the present study was conducted to determine the worldwide prevalence, incidence and mortality of anencephaly.MethodsCochran’s seven-step instructions were used as the guideline. Having determined the research question and inclusion and exclusion criteria, we studied MagIran, SID, Science Direct, WoS, Web of Science, Medline (PubMed), Scopus, and Google Scholar databases. Moreover, the search strategy in each database included using all possible keyword combinations with the help of “AND” and “OR” operators with no time limit to 2021. The I2 test was used to calculate study heterogeneity, and Begg and Mazumdar rank correlation tests were employed to assess the publication bias. Data were analyzed by Comprehensive Meta-Analysis software (Version 2).ResultsIn this study, the statements of Preferred Reporting Items for Systematic Reviews and Meta-Analyzes (PRISMA) were used. In the first stage, 1141 articles were found, of which 330 duplicate studies were omitted. 371 articles were deleted based on the inclusion and exclusion criteria by reviewing the title and abstract of the study. 58 articles were removed by reviewing the full text of the article because it was not relevant to the research. 360 studies with a sample size of 207,639,132 people were considered for the meta-analysis. Overall estimate of the prevalence, incidence and attenuation of anencephaly worldwide were 5.1 per ten thousand births (95% confidence interval 4.7–5.5 per ten thousand births), 8.3 per ten thousand births (95% confidence interval 5.5–9.9 per ten thousand births), 5.5 per ten thousand births (95% confidence interval 1.8–15 per ten thousand births) respectively the highest of which according to the subgroup analysis, belonged to the Australian continent with 8.6 per ten thousand births (95% confidence interval 7.7–9.5 per ten thousand births).ConclusionThe overall prevalence of anencephaly in the world is significant, indicating the urgent need for preventive and treating measures.

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.

Spina bifida: a rare clinical image

Spina bifida is an uncommon neural tube disease (NTD) that affects about one in every 1000 births in Europe. These defects are caused by a teratogenic process that results in the embryonic neural tube´s failure to close and aberrant differentiation. Spina bifida occulta, meningocele, myelomeningocele, encephalocele, anencephaly, and dermal sinus are the most common neural tube defects. It occurs within the first 25 days of pregnancy. Although the disease cannot be cured, new medical interventions have allowed many people with spina bifida to live to a ripe old age with a high quality of life. However, long-term monitoring is essential. Women from lower socioeconomic backgrounds are more likely to be affected. A daily intake of folic acid two months prior to conception and two months after conception can prevent approximately 70% of spina bifida. Prenatal diagnosis and terminations of pregnancies, not primary prevention, helped spina bifida become an uncommon condition. Here, we report a case of a one-day-old male neonate who was born at full term and had respiratory distress and a congenital abnormality. A complete local and systemic examination was performed, and meningocele, a severe form of spina bifida, was diagnosed. The patient was referred to a neurosurgeon and was advised an ultrasound abdomen and an magnetic resonance imaging (MRI) spine, but neither of these tests were performed because the patient was transferred to another hospital for treatment.

Characteristics and first-year mortality, by lesion level, among infants with spina bifida in the New York State Birth Defects Registry, 2008-2017.

Spina bifida is the most common neural tube defect. It has been associated with increased mortality, disability, and may require lifelong medical care. Higher-level lesions have been shown to be associated with increased mortality in infants with spina bifida. A study was conducted using data from infants with myelomeningocele and related spina bifida reported to the New York State Birth Defects Registry for birth years 2008 through 2017. Descriptive statistics were conducted. Cox regression was used to calculate adjusted hazard ratios for mortality by age one, by lesion level. Hazard ratios were adjusted for birthweight and maternal race/ethnicity. Overall survival at age one was 90.7%. Cervical-level lesions had an increased risk of mortality compared to lumbar-level lesions (HR 8.32; 95% CI: 2.56, 27.05). No statistically significant associations were found for sacral-level lesions compared to lumbar-level lesions. These results suggest that infants with cervical-level spina bifida have a higher risk of death by age one than those with other lesion levels.

Cerebral Abnormalities in Spina Bifida: A Neuropathological Study.

IntroductionSpina bifida (SB) is the most common neural tube defect in humans. Here, we analyzed systematically the neuropathological findings of the brain in SB cases.Methods79 cases with SB aperta (SBA) and 6 cases with SB occulta (SBO) autopsied at the Charité Neuropathology from 1974 to 2000 were re-evaluated retrospectively. For this, case files and spinal cord as well as brain sections were studied.ResultsWhile no brain malformations were detected in SBO cases, 95% of SBA cases had brain malformations. Main brain anomalies identified were hydrocephalus (71%), Chiari II malformation (36%), heterotopia (34%), other cerebellar anomalies (36%), gyrification defects (33%), and ependymal denudation (29%). Hydrocephalus was observed as early as gestational week 17 and was highly associated to Chiari II and ependymal denudation. In 55% SBA was accompanied by further anomalies not primarily affecting the CNS.ConclusionWe confirm using neuropathologic methods brain malformations in most SBA but none in SBO cases. In addition to our previous radiologic study, we now demonstrate the high prevalence of cerebellar malformations and cerebral heterotopias in SBA. The early detection of hydrocephalus and Chiari II malformation in fetuses raises the question whether these arise parallel rather than in strict temporal sequence.

Incidence and risk factors for neural tube defects in a Bosnian population

Introduction: Neural tube defects (NTDs) are multifactorial congenital anomalies of the central nervous system that results from failed neural tube closure between the 3rd and 4th weeks of embryonic development. Numerous clinical and experimental studies indicate that supplementation with folic acid before and during early pregnancy reduces the development of these anomalies. The present study examined the incidence and risk factors for NTDs and evaluated the effects of folic acid supplementation.Methods: This cross-sectional study included all children with NTDs who were hospitalized at the Pediatric Clinic, Clinical Centre University of Sarajevo during the period from January 01, 2008 to December 31, 2012. Data were collected retrospectively from the medical histories of hospitalized children. The study included children in pediatric clinics from four cantons (Sarajevo, Zenica–Doboj, Unsko–Sanski, and Central Bosnia) of the Federation of Bosnia and Herzegovina. The number of live births for the specified period in each of the four cantons was taken from a report by the Cantonal Ministry of Health.Results: Among the 69,096 live births recorded during the study period, 39 children had verified NTDs, with an overall incidence of 0.56:1,000 (or 5.6:10,000) in all four cantons. The most common NTDs were myelomeningocele with hydrocephalus (22/39, 56.4%), followed by isolated myelomeningocele (9/39, 23.1%), spina bifida occulta (7/39, 17.9%), and occipitocele (1/39, 2.6%). A total of 33.3% (13/39) of mothers took folic acid, but only one began supplementation prior to pregnancy, while 67.7% (26/39) of mothers did not take folic acid during pregnancy. NTDs were found more frequently in primiparas (53.8%), women with low education (basic school, 64.1%), and unemployed women (82.1%).Conclusion: It is important to make national recommendations for folic acid supplementation for women of reproductive age, but also change the public health policy that includes mandatory fortification of basic foods as this is the best measure for primary prevention of NTDs in the whole population regardless of employment and education status. Additional comprehensive studies are required to assess the incidence and risk factors throughout Bosnia and Herzegovina.

Perspectives on urological care in spina bifida patients.

Spina bifida (SB) is a neurogenetic disorder with a complex etiology that involves genetic and environmental factors. SB can occur in two major forms of open SB or SB aperta and closed SB or SB occulta. Myelomeningocele (MMC), the most common neural tube defects (NTDs), occurs in approximately 1 in 1,000 births. Considering non-genetic factors, diminished folate status is the best-known factor influencing NTD risk. The methylenetetrahydrofolate reductase (MTHFR) gene has been implicated as a risk factor for NTDs. The primary disorder in the pathogenesis of MMC is failed neural tube closure in the embryonic spinal region. The clinical manifestation of SB depends on clinical type and severity. SB can be detected in the second trimester using ultrasound which will reveal specific cranial signs. The management of MMC traditionally involves surgery within 48 h of birth. Prenatal repair of MMC is recommended for fetuses who meet maternal and fetal Management of Myelomeningocele Study (MOMS) specified criteria. Urological manifestations of SB include urinary incontinence, urolithiasis, sexual dysfunction, renal dysfunction, and urinary tract infection. Renal failure is among the most severe complications of SB. The most important role of the urologist is the management of neurogenic bladder. Medical management with clean intermittent catheterization and anticholinergic treatment is generally considered the gold standard of therapy. However, when this therapy fails surgical reconstruction become the only remaining option. This review will summarize the pathogenesis, risk factors, genetic contribution, diagnostic test, and management of SB. Lastly, the urologic outcomes and therapies are reviewed.