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Background: Although it is well-known that the presence of fetal anomalies is associated with maternal morbidity, granular information on these risks by type of anomaly is not available., Objective: To examine adverse maternal outcomes according to the type of fetal anomaly., Study Design: This was a repeated cross-sectional analysis of US vital statistics Live Birth/Infant Death linked data from 2011 to 2020. All pregnancies at 20 weeks or greater were included. Our primary outcome was severe maternal morbidity (SMM), defined as any maternal intensive care unit admission, transfusion, uterine rupture, or hysterectomy. Outcomes were compared between pregnancies with a specific type of fetal anomaly and pregnancies without any fetal anomaly. Fetal anomalies that were available in the dataset included anencephaly, meningomyelocele/spina bifida, cyanotic congenital heart disease, congenital diaphragmatic hernia, omphalocele, gastroschisis, cleft lip and/or palate, hypospadias, limb anomaly, and chromosomal disorders. If a fetus had more than one anomaly, it was classified as multiple anomalies. Adjusted relative risks (aRR) with 99% confidence intervals (99% CI) were calculated using modified Poisson regression. Adjusted risk differences (aRDs) were calculated using the marginal standardization form of predictive margins., Results: Of 35,760,626 pregnancies included in the analysis, 35,655,624 pregnancies had no fetal anomaly and 105,002 had isolated or multiple fetal anomalies. Compared to pregnancies without fetal anomaly, all fetal anomalies were associated with an increased risk of SMM except for gastroschisis and limb anomaly in order of aRRs (99% CI): 1.58 (1.29-1.92) with cleft lip and/or palate; 1.75 (1.35-2.27) with multiple anomalies; 1.76 (1.18-2.63) with a chromosomal disorder; 2.19 (1.82-2.63) with hypospadias; 2.20 (1.51-3.21) with spina bifida; 2.39 (1.62-3.53) with congenital diaphragmatic hernia; 2.66 (2.27-3.13) with congenital heart disease; 3.15 (2.08-4.76) with omphalocele; and 3.27 (2.22-4.80) with anencephaly. Compared to pregnancies without fetal anomaly, all fetal anomalies were associated with an increased absolute risk of SMM except for gastroschisis and limb anomaly in order of aRDs (99% CI): 0.26 (0.12-0.40) with cleft lip and/or palate, 0.34 (0.13-0.55) with multiple anomalies, 0.34 (0.02-0.66) with a chromosomal disorder, 0.54 (0.36-0.72) with hypospadias, 0.54 (0.17-0.92) with spina bifida, 0.63 (0.21-1.05) with congenital diaphragmatic hernia, 0.75 (0.56-0.95) with congenital heart disease, 0.97 (0.38-1.56) with omphalocele, and 1.03 (0.46-1.59) with anencephaly., Conclusion: The presence of fetal anomalies is associated with adverse maternal health outcomes. The risk of SMM varies according to the type of fetal anomaly. Counseling mothers about the maternal implications of fetal anomalies is paramount to help them make informed decisions regarding their pregnancy outcome., (Copyright © 2024 Elsevier Inc. All rights reserved.)

Spinal dysraphisms are amenable to diagnosis in utero. The prognosis and the neonatal management of these conditions differ significantly depending on their types, mainly on the distinction between open and closed defects. A detailed evaluation not only of the fetal spine, but also of the brain, skull, and lower limbs is essential in allowing for the right diagnosis. In this article, recommendations from the Fetal Task Force of the European Society of Paediatric Radiology (ESPR) and the European Society of Neuroradiology (ESNR) Pediatric Neuroradiology Committee will be presented. The aim of this paper is to review the imaging features of the normal and abnormal fetal spinal cord, to clarify the prenatal classification of congenital spinal cord anomalies and to provide guidance in their reporting., (© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Background: Fetoscopic spina bifida repair is increasingly being practiced, but limited skill acquisition poses a barrier to widespread adoption. Extensive training in relevant models, including both ex vivo and in vivo models may help. To address this, a synthetic training model that is affordable, realistic, and that allows skill analysis would be useful., Objective: This study aimed to create a high-fidelity model for training in the essential neurosurgical steps of fetoscopic spina bifida repair using synthetic materials. In addition, we aimed to obtain a cheap and easily reproducible model., Study Design: We developed a 3-layered, silicon-based model that resemble the anatomic layers of a typical myelomeningocele lesion. It allows for filling of the cyst with fluid and conducting a water tightness test after repair. A compliant silicon ball mimics the uterine cavity and is fixed to a solid 3-dimensional printed base. The fetal back with the lesion (single-use) is placed inside the uterine ball, which is reusable and repairable to allow for practicing port insertion and fixation multiple times. Following cannula insertion, the uterus is insufflated and a clinical fetoscopic or robotic or prototype instruments can be used. Three skilled endoscopic surgeons each did 6 simulated fetoscopic repairs using the surgical steps of an open repair. The primary outcome was surgical success, which was determined by water tightness of the repair, operation time <180 minutes and an Objective Structured Assessment of Technical Skills score of ≥18 of 25. Skill retention was measured using a competence cumulative sum analysis of a composite binary outcome of surgical success. Secondary outcomes were cost and fabrication time of the model., Results: We made a model that can be used to simulate the neurosurgical steps of spina bifida repair, including anatomic details, port insertion, placode release and descent, undermining of skin and muscular layer, and endoscopic suturing. The model was made using reusable 3-dimensional printed molds and easily accessible materials. The 1-time startup cost was €211, and each single-use, simulated myelomeningocele lesion cost €9.5 in materials and 50 minutes of working time. Two skilled endoscopic surgeons performed 6 simulated, 3-port fetoscopic repairs, whereas a third used a Da Vinci surgical robot. Operation times decreased by more than 30% from the first to the last trial. Six experiments per surgeon did not show an obvious Objective Structured Assessment of Technical Skills score improvement. Competence cumulative sum analysis confirmed competency for each surgeon., Conclusion: This high-fidelity, low-cost spina bifida model allows simulated dissection and closure of a myelomeningocele lesion. VIDEO ABSTRACT., (Copyright © 2024 Elsevier Inc. All rights reserved.)

Neurogenic bladder poses a major morbidity in children with spina bifida (SB), and videourodynamic studies (VUDS) are used to stratify this risk. This small-scale pilot study utilized current mass-spectrometry-based proteomic approaches to identify peptides or proteins in urine that may differentiate children at high risk of developing renal complications from a neurogenic bladder. Twenty-two urine samples of which nine had high bladder pressure storage that put the upper urinary tract at risk, while 13 with a lower risk for renal compromise were analyzed. More than 1,900 peptides across all 22 samples were quantified, and 115 peptides differed significantly ( P < 0.05) between the two groups. Using machine learning approaches five peptides that showed the greatest differences between these two clinical categories were used to build a classifier. We tested this classifier by blind analysis of an additional six urine samples and showed that it correctly assigned the unknown samples in their proper risk category. These promising results indicate that a urinary screening test based on peptides could be performed on a regular basis to stratify the neurogenic bladder into low or high-risk categories. Expanding this work to larger cohorts as well as across a broad spectrum of urodynamics outcomes may provide a useful diagnostic test for neurogenic bladder. NEW & NOTEWORTHY This approach could help risk stratify the neurogenic bladder in patients with spina bifida and could allow us to safely defer on up to 1/3 of urodynamic studies. These pilot data justify a larger trial before this approach becomes a clinical tool.

Purpose: To review the urological outcomes of proactive versus delayed management of children with a neurogenic bladder (NB)., Methods: We performed a literature search on EMBASE, MEDLINE, Scopus, Web of Science, and Cochrane Central Register of Controlled Trials between January 1, 2000 to August 21, 2023 for studies investigating the management of spina bifida-associated NB in pediatric patients (0-18 years of age). Proactive management was defined as use of clean intermittent catheterization, and/or anticholinergics at presentation, or based on initial high-risk urodynamic findings by 1 year of age. Delayed management was defined as beginning management after 1 year of age or no intervention. Outcomes included incidence or diagnosis of secondary vesicoureteral reflux (VUR), urinary tract infection (UTI), and renal deterioration, which included renal scarring, loss of differential renal function on a nuclear scan, or a decrease in renal function defined by glomerular filtration rate or serum creatinine estimation. Forest plots were synthesized using the Inverse Variance method with random-effect model. The Risk of Bias was assessed using the ROBINS-I tool., Results: We included 8 observational studies on 652 pediatric patients with spina bifida-associated NB (mean follow-up - 7 years). Proactive management following initial assessment was associated with significantly lower risks of secondary VUR (OR 0.37 [0.19, 0.74], p = 0.004), non-febrile UTI (OR 0.35 [0.19, 0.62], p = 0.0004), and renal deterioration (OR 0.31 [0.20, 0.47], p < 0.00001)., Discussion: Delayed management of NB potentially has 3 times higher risks of secondary VUR, non-febrile UTI, and renal deterioration. However, the evidence is limited by the high risk of bias due to lack of randomization and standardized reporting in observational studies., Conclusion: While further well-defined prospective studies with long-term follow-up should be conducted to confirm this finding, this study supports the EAU/ESPU recommendations for early intervention in children with NB., Competing Interests: Conflict of interest All authors declare no conflicts of interest., (Copyright © 2023 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.)

Patients with midline cutaneous anomalies of the craniospinal axis can be indicative of underlying embryonic defects, such as neural tube defects. Lack of familiarity with these midline aberrant skin findings may lead to misdiagnosis and delayed treatment. In this review, midline cutaneous anomalies of the craniospinal axis including aplasia cutis congenita, cranial and spinal dysraphism, and other developmental anomalies are explored in detail with emphasis on cutaneous clues to the diagnosis and appropriate workup., Competing Interests: Conflicts of interest None disclosed., (Copyright © 2023 American Academy of Dermatology, Inc. Published by Elsevier Inc. All rights reserved.)

Background/rationale: Anorectal malformations (ARM) are associated with congenital anomalies of the spine, but the impact of a minor spinal cord dysraphism (mSCD) on fecal continence in the setting of ARM remains unclear., Materials/methods: A retrospective review was performed utilizing data from the Pediatric Colorectal and Pelvic Learning Consortium (PCPLC) registry. The patient cohort was reviewed for ARM type, mSCD screening/incidence/neurosurgical intervention and age-based BMP utilization., Results: 987 patients with ARM were categorized into mild (38%), moderate (32%) or complex (19%). 694 (70%) had normal spinal (NS) status. 271 (27.5%) patients had mSCD. MRI alone (49%) was the most common screening test for mSCD. US screening had a positive predictive value of 86.3% and a negative predictive value of 67.1%. Surgical intervention rates for mSCD ranged between 13% and 77% at a median age of 0.6-5.2 years. 726 (73.6%) patients were prescribed BMP (74.4% NS, 77.5% mSCD). Laxatives were most utilized BMP in all groups <5yo. ≥5yo, enema utilization increased with ARM complexity independent of spine status (with or without neurosurgical intervention). Neurosurgical intervention did not affect BMP utilization at any age or with any ARM when mSCD was identified., Conclusions: MSCD influence on bowel function in the setting ARM remains unclear. No significant impact of mSCD was noted on ARM patient bowel management program utilization. Variability exists within PCPLC site with screening and intervention for mSCD in patients with ARM. Future studies with standardized care may be needed to elucidate the true impact of mSCD on long term patient outcomes in ARM patients., Type of Study: Retrospective Comparative Study., Level of Evidence: III., (Copyright © 2023 Elsevier Inc. All rights reserved.)

Purpose: False-positive urine pregnancy screening tests (UPST) have been reported among patients with bowel-containing urinary reconstruction (BCUR). However, the true frequency of such inaccurate results, which have been attributed to urinary mucous or other proteins interfering with or mimicking the binding of beta-HCG in the assay, is unknown in this population. We sought to determine the incidence of false-positive pregnancy screening tests among this patient population at our institution., Materials and Methods: Using existing databases of patients with spina bifida, bladder exstrophy, and genitourinary rhabdomyosarcoma, we identified female patients with BCUR who had UPST over a 10-year period as screening prior to procedures or imaging. Patient and test result information was recorded., Results: A total of 120 patients with a history of BCUR were identified: 33 with spina bifida, 73 within the exstrophy-epispadias complex (EEC), and 14 with genitourinary rhabdomyosarcoma. Of this group, 46 patients (38%) had at least one UPST during the study period; 15 had 1 UPST, 6 had 2 UPSTs, 4 had 3 UPSTs, and 21 had greater than 3 UPSTs, for a total of 244 UPST in this cohort. UPSTs used at our institution included Sure-Vue brand and Alere brand (HCG sensitivity 20 mIU/ml). Types of BCUR included ileal enterocystoplasty in 25 patients, colon enterocystoplasty in 6, stomach enterocystoplasty in 5, composite enterocystoplasty in 7, and continent catheterizable channel alone (e.g. Yang-Monti, appendicovesicostomy) in 3 patients. Of the 244 UPSTs in patients with BCUR, zero (0%) were positive., Conclusions: Despite reports in the literature that false-positive UPST are common among patients with bowel-containing urinary diversions, we found no positive UPST among patients with BCUR in the healthcare setting. False-positive UPST in the home setting may be due to variability in sensitivity thresholds, binding agents, technical errors in test technique, kit quality control, or other factors., Competing Interests: Conflicts of interest The authors have no financial interests to disclose., (Copyright © 2023 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.)

Introduction: Somatosensory evoked potential (SSEP) and urodynamic studies (UD) are valuable tools for assessing patients with closed spinal dysraphism (CSD) before neurosurgical intervention. No studies have correlated their findings in this cohort and our aim is to study their correlation and prognostic value in pediatric patients with closed spinal dysraphism., Methods: Retrospective review of all patients referred to a multidisciplinary clinic in a tertiary pediatric surgical center over a 17 years period between April 2004 to September 2021 was performed. Inclusion criteria were <18 years old, diagnosed with CSD, with SSEP and UD done within 1 year of each other. Demographics data collected include age at presentation/at referral/at neurosurgical operation, gender, symptoms at presentation and intra-operative diagnoses. Pre-operative SSEP and UD findings were documented. Primary outcome was UD results in the group with normal and abnormal SSEP. Secondary outcome was urological and bowel function outcome in 4 groups of patients (Group A-both normal SSEP and UD, Group B- abnormal SSEP only, Group C - abnormal UD only and Group D-both abnormal SSEP and UD)., Results: A total of 45 patients were included for analysis. Mean follow up time was 118.9 months (24-216 months, SD 55.8 months). SSEP was normal in 20 patients and abnormal in 25 patients. Baseline demographics, preoperative symptoms and imaging were similar between 2 groups. Primary outcome Patients with abnormal SSEP were more likely to have abnormal UD results with a statistically significant difference (84% vs 40%, p < 0.05). They have a significantly higher end-fill detrusor pressure (12% vs 0%, p < 0.05), abnormal bladder compliance (20% vs 0%, p < 0.05), abnormal cystometric capacity (48% vs 10%, p < 0.05), poor emptying efficiency (24% vs 5%, p < 0.05) and sphincter incompetence (8% vs 0%, p < 0.05). Secondary outcome When compared to Groups A to C, patients in group D were more likely to be on anti-cholinergic (33.3% vs 4.3%, p < 0.05), required clean intermittent catheterization (42.9% vs 4.3%, p < 0.05) and had intravesical botulinum injection (19% vs 0%, p < 0.05). All the patients who had augmentation cystoplasty were in this group as well. Bowel function in terms of regular enema use was also statistically significantly higher in this group (33.4% p < 0.05)., Conclusion: Pre-operative SSEP and UD results correlate well in patients with closed spinal dysraphism. Patients with abnormal SSEP and UD preoperatively have higher risk of urological deterioration over time. Close monitoring in this group is warranted., (Copyright © 2022 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.)

Purpose: Retethering of the cord can occur after the initial untethering surgery. Typical neurological manifestations indicative of cord tethering are often difficult to determine in pediatric patients. Patients who had a primary untethering operation are likely to present with some degree of neurological deficits from a previous tethering event, and urodynamic studies (UDSs) and spine images are frequently abnormal. Therefore, more objective tools to detect retethering are needed. This study sought to delineate the characteristics of EDS of retethering, and therefore, could support the diagnosis of retethering., Methods: Among 692 subjects who had an untethering operation, data from 93 subjects who had been suspected of retethering clinically were retrospectively extracted. The subjects were divided into two groups, a retethered group, and a non-progression group, according to whether or not surgical interventions had been performed. Two consecutive EDSs, clinical findings, spine magnetic resonance imaging scans, and UDSs before the development of new tethering symptoms were reviewed and compared., Results: In the electromyography (EMG) study, the appearance of abnormal spontaneous activity (ASA) in new muscles was prominent in the retethered group (p < 0.01). The loss of ASA was more pronounced in the non-progression group (p < 0.01). Specificity and sensitivity of EMG for retethering were 80.4 and 56.5%, respectively. In the nerve conduction study, the two groups did not show differences. The size of fibrillation potential was not different between the groups., Conclusions: To provide support for a clinician's decision on retethering, EDS could be an advantageous tool with high specificity when the results are compared to previous EDS results. Routine follow-up EDS post-operatively is recommended as a baseline for comparison at the time when retethering is clinically suspected., (© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Austria, part of Springer Nature.)

Purpose: The presence and progression of symptoms is the basis for deciding to perform surgery in infants with closed spinal dysraphism (CSD); however, identifying symptoms could be limited, making it difficult to decide. This study investigated whether an electrodiagnostic study (EDS) can provide evidence of neural damage in asymptomatic infants with CSD., Methods: The study group comprised infants with CSD suspected of having neural damage based on structural abnormalities in spinal ultrasound findings. The patients' medical records were reviewed retrospectively for their clinical presentation, neuroimaging findings, urodynamic study (UDS) results, EDS findings, and surgical status., Results: Among 125 infants who underwent EDS and UDS, 117 (94%) had no clinical symptoms, except for cutaneous manifestations. Among these asymptomatic patients, 51 individuals (43.6%) had abnormal EDS findings; 33 subjects (28.2%) showed abnormal findings on EDS alone, while 37 (31.6%) on UDS alone, and 18 (15.4%) on both EDS and UDS. Chi-square test showed an opposite relationship between the two test results; when EDS was abnormal, UDS was often normal and vice versa (χ 2  = 5.328, p = 0.021). In all cases with abnormal EDS, denervation potentials, such as fibrillation and positive sharp waves, were observed on needle electromyography. However, abnormal findings in the nerve conduction study were observed only in six cases., Conclusion: Subclinical neural damage was identified through EDS in asymptomatic infants with CSD. EDS could be necessary to determine whether follow-up monitoring only or surgical intervention is required for this patient group complementing UDS findings., (© 2022. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Ischemic myelomalacia secondary to fibrocartilaginous emboli (FCE) is an idiopathic disease in humans and animals. On the other hand, congenital spinal cord malformations result from neural tube defects in fetal development (ie, spinal dysraphism), with structural anomalies referred to collectively as myelodysplasia. Spinal dysraphisms are frequently accompanied by skin and vertebral abnormalities because of the embryogenic relationship. In this observational case study, we report the pathologic findings of 13, 18- to 24-weeks-old pigs from a large conventional operation that presented with acute paraparesis. Ischemic myelomalacia secondary to FCE was observed in 5 of 13 examined pigs. Congenital spinal cord malformations located between the caudal thoracic and sacral spinal cord were identified in 7 pigs, with structural abnormalities that ranged from diplomyelia/split cord malformation to segmental spinal dysgenesis (myelodysplasia) to caudal agenesis. Concurrent myelomalacia and congenital spinal cord malformations in the same or different sites were noted in 2 pigs. No spinal lesion was observed in 3 pigs. Although gross vertebral abnormalities were not observed herein, intervertebral instability due to minor defects in the articular facets, as well as other unidentified factors, is suspected to contribute high incidence of FCE. It is likely that these congenital malformations were previously underdiagnosed or are possibly new conditions associated with continuous inbreeding and genetic improvement in the modern swine industry.

Introduction: Regional techniques are a key component of multimodal analgesia and help decrease opioid use perioperatively, but some techniques may not be suitable for all patients, such as those with spina bifida. We hypothesized peripheral regional catheters would reduce postoperative opioid use compared with no regional analgesia without increasing pain scores in pediatric patients with spina bifida undergoing major urological surgery., Methods: A retrospective review of a multicenter database established for the study of enhanced recovery after surgery was performed of patients from 2009 to 2021 who underwent bladder augmentation or creation of catheterizable channels. Patients without spina bifida and those receiving epidural analgesia were excluded. Opioids were converted into morphine equivalents and normalized to patient weight., Results: 158 patients with pediatric spina bifida from 7 centers were included, including 87 with and 71 without regional catheters. There were no differences in baseline patient factors. Anesthesia setup increased from median 40 min (IQR 34-51) for no regional to 64 min (IQR 40-97) for regional catheters (p<0.01). The regional catheter group had lower median intraoperative opioid usage (0.24 vs 0.80 mg/kg morphine equivalents, p<0.01) as well as lower in-hospital postoperative opioid usage (0.05 vs 0.23 mg/kg/day morphine equivalents, p<0.01). Pain scores were not higher in the regional catheters group., Discussion: Continuous regional analgesia following major urological surgery in children with spina bifida was associated with a 70% intraoperative and 78% postoperative reduction in opioids without higher pain scores. This approach should be considered for similar surgical interventions in this population., Trial Registration Number: NCT03245242., Competing Interests: Competing interests: KOR is a site investigator for AbbVie., (© American Society of Regional Anesthesia & Pain Medicine 2023. No commercial re-use. See rights and permissions. Published by BMJ.)

Purpose: Split cord malformation (SCM) presenting concomitant with spinal teratoma without any open spinal dysraphism has rarely been reported in the literature. We aimed to make a systematic review and qualitative analysis of the literature about the topic and present the first case of SCM concomitant with spinal teratoma harboring papillary thyroid carcinoma (PTC) component., Methods: Two big search tools (Pubmed/MEDLINE) and Scopus were used. The search strategy was compatible to Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA). An exemplary case of ours was also presented., Results: There were 30 patients (15 pediatric and 15 adult). Female and male distribution was even. Median age of the patients was 18 years (range = 0-66 years). The most common presenting symptoms were back pain and lower limb weakness. Spinal teratoma and SCM mostly presented at thoracic/thoracolumbar region in children and lumbar region in adults. Surgical outcome was better in the children compared to the adults., Conclusion: Thoracolumbar region is the most common location for such entity in children, whereas lumbar region for the adults. Surgical resection should be done as much as possible under neuromonitorization. The resected material should be evaluated thoroughly not to miss any malign pathology. Surgical outcome is better when it is done at an early age., (© 2022. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Objective: To evaluate first trimester maternal weight as a spina bifida screening marker., Methods: Case-control study of spina bifida and unaffected pregnancies; cases were from national records and controls from women referred to prenatal screening centers in the Ukraine. The median and inter-quartile range of weight, body mass index (BMI) and the obesity rate (BMI ≥ 30 kg/m 2 ) were compared. Discriminatory power was assessed by logistic regression. Gaussian modeling was used to predict the additional spina bifida detection when weight was included as a screening marker risk in addition to first trimester biparietal diameter (BPD) and serum α-fetoprotein (AFP)., Results: There were 97 cases and 274 controls. The distribution of maternal weight was increased in cases by 3 kg, on average, about 5% ( p  < .05); BMI was increased about 8% ( p  < .005). Some 15% of cases were obese compared with 6.9% of controls ( p  < .02). In logistic regression including BMI and maternal age, 29% cases and 9.8% controls had high risk of spina bifida. Modeling predicted that incorporating weight would increase the detection rate compared with BPD and AFP alone by 3% and BMI would increase it by 4%., Conclusion: Incorporating maternal weight into first trimester spina bifida screening protocols will increase detection.

Background: Spina bifida is a type of a neural tube defect which affects 243.14 per 100,000 babies in Asia. Research articles on spina bifida have increased in the recent years. However, no study has focused on the research trends in this field in Asia., Methods: A systematic review of literature on spina bifida in Asia was performed using the Scopus database from inception to 2020. All published studies on spina bifida conducted in or published by authors from Asia were included in our analysis. Bibliometric information was obtained from Scopus and bibliometrics diagrams were created using VOSviewer software., Results: A total of 652 articles were obtained in this study. The number of publications showed an upward trend starting 2000s. The country with the greatest number of publications was Japan while All India Institute of Medical Sciences was the most productive institution in spina bifida research in Asia. The current focus of this field in Asia was prevalence of spina bifida, prenatal diagnosis, folic acid supplementation, and complications of spina bifida. Future areas of research in spina bifida include the genetic basis of neural tube defects and the use of stem cell technology as therapies for spina bifida., Conclusion: This is the first bibliometric analysis on spina bifida in Asia. It showed the trend and future areas of research on spina bifida in Asia. Despite the increase in scientific literature on spina bifida research, more research outputs and collaborations are needed especially in developing countries in Asia., (© 2022. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

In this focused narrative review we set out to review the current literature addressing the utilization of UDS in patients with spina bifida (SB). We specifically analyzed 6 urodynamic parameters and their roles as predictors of upper tract deterioration in pediatric SB patients. The material available did not allow a systematic analysis or the usage of metanalysis methodology, due to the predominance of small retrospective cohorts, and high heterogeneity. We identified 10 retrospective chart reviews that met our study criteria. The results of each of these papers, as well as other studies deemed relevant to the discussion, are included in our narrative review of the literature. We summarize the current literature, offer explanations for divergences in opinion, and identify future research directions and emerging solutions with a focus on machine learning., (Copyright © 2022. Published by Elsevier Ltd.)

Purpose: We systematically reviewed the variability in definitions of kidney abnormality (KA) outcomes in individuals with spina bifida (SB)., Materials and Methods: A systematic scoping review was conducted using MEDLINE, Embase™, Cochrane Library, CINAHL, PsycInfo®, Web of Science™ and ClinicalTrials.gov for articles from time of database inception to September 2020. No language or patient age restrictions were applied. Primary research articles involving individuals with SB where KA was assessed as an outcome were included. Means of assessing KA and defining KA severity were abstracted., Results: Of 2,034 articles found, 274 were included in the review. Most articles were published after 1990 (63.5%) and included pediatric-only populations (0-18 years; 60.5%). KA outcomes were identified by imaging-based anatomical outcomes (84.7%), serum-based outcomes (44.9%), imaging-based functional outcomes (5.5%), urine-based outcomes (3.3%) and diagnoses of end-stage kidney disease (2.6%) or chronic kidney disease otherwise unspecified (1.8%). Hydronephrosis was the most commonly used specific outcome (64.6%, 177/274) with 19.8% (35/177) of articles defining hydronephrosis severity. Hydronephrosis was used more frequently in articles with pediatric-only populations. Creatinine and cystatin-C were used in 82.1% (101/123) and 17.9% (22/123) of articles reporting serum-based outcomes, respectively, with 32.7% and 50.0% of articles defining estimated glomerular filtration rate (GFR) severity. Serum-based outcomes were more common in articles including adults >18 years. Measured GFR was assessed in 9.9% (27/274) of articles, with 44.4% (12/27) of articles defining GFR severity., Conclusions: Significant variability exists in how authors define KA with few specifically defining KA severity. Consensus and consistency in defining KA outcomes are needed.

Background: Serpentine-like syndrome (SLS) is a rare foetal abnormality, characterized by brachioesophagus, secondary intrathoracic stomach and vertebral deformity. Herein, we report a case of SLS diagnosed based on imaging, genetic examination and autopsy findings., Case Presentation: From the 19th to 23rd weeks of gestation, the foetus presented with brachioesophagus, secondary intrathoracic stomach, intrathoracic spleen with poly-spleen malformation, spinal deformity and diaphragm dysplasia, and some abdominal organs were partly located in the thoracic cavity. After extensive counselling, the couple opted to terminate the pregnancy. Whole genome sequencing and autopsy were performed. Then, the foetus was diagnosed with SLS., Discussion and Conclusions: SLS is characterized by multiorgan deformities and is associated with poor prognosis. Multiorgan deformities can be detected on prenatal sonography using three-dimensional ultrasound technology., (© 2022. The Author(s).)

Introduction: Spina bifida (SB) is the most common neural tube defect in humans. Here, we analyzed systematically the neuropathological findings of the brain in SB cases., Methods: 79 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., Results: While 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., Conclusion: We 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.

Quantitative data assessment on the basis of three-dimensional gait analysis has been routinely used in the evaluation of pathological gait of children with cerebral palsy. However, a similar quantitative methodology has not been applied for spina bifida patients in whom atypical gait patterns are thought to correlate with various levels of neurological paralysis. The purpose of this study is to investigate the differences among gait patterns in spina bifida between different levels of neurological lesions using quantitative methods: Gait profile score (GPS) and gait variable scores (GVS), scoring subject's gait deviation from a reference. In this cross-sectional study, 22 children with spina bifida (11 women, 11 men; mean age 9.4 years, SD 3.8 years, range 3-17 years), were examined using three-dimensional gait analysis from 2008 to 2018. Physical examination allowed for classification of each of the 44 limbs as either L4, L5 or S1 and comparison with the GPS and GVS using a linear mixed model. GPS and the GVS of the pelvis and hip range of motion in the coronal plane were significantly higher in the L4 group than in the L5 and S1 groups (GPS, P = 0.041, P = 0.003, respectively; GVS of pelvis, P = 0.001, P = 0.001; GVS of hip, P < 0.001, P < 0.001) GVS (foot progression angle) was significantly lower in the S1 group than in L4 and L5 groups (P < 0.001, P = 0.037). We found that GPS and GVS enable us to quantitatively assess the differences among gait patterns between different neurological levels. The scoring tool showed the potential for detecting individual neurological changes., (Copyright © 2021 Wolters Kluwer Health, Inc. All rights reserved.)

Spina bifida and tethered spinal cord are congenital diseases that can lead to severe disability. At present, most doctors in relevant specialties in China still have insufficient understanding of spina bifida, resulting in high incidence and aggravation of its complications. To provide guidance for the diagnosis and treatment of spina bifida and tethered spinal cord in China, experts from neurosurgery, urology, orthopedics, spine surgery, and rehabilitation departments who have experiences in the diagnosis and treatment of spina bifida discussed and summarized their experiences, and referred to the relevant literature on the diagnosis and treatment of spina bifida at home and abroad. Expert consensus was formed in the following aspects: concept, classification, and pathological changes of spina bifida; diagnosis; treatment process and operation timing; principles and methods of treatment; rehabilitation; and follow up. This expert consensus can provide reference for relevant care providers of spina bifida in China.

Context: Children with spina bifida are at high risk for urinary tract infections (UTI). However, there is no standardized definition of UTI in this population, leading to variability in both clinical management and research. This was highlighted in the 2013 systematic review on the same topic., Objective: Evaluate the frequency with which researchers are defining UTI in their studies of children with spina bifida and to determine what parameters are used., Data Sources: We searched Medline and Scopus databases for articles that included pediatric patients with spina bifida and used UTI as an outcome., Study Selection: Exclusion criteria included publication before October 1, 2012, non-English language, and nonprimary research articles., Data Extraction: Two independent reviewers each extracted data., Results: A total of 39 studies were included; 74% of these analyzed included an explicit definition of UTI. The most commonly used definition included a combination of symptoms and culture results (34.5%), whereas 31% used a combination of symptoms, culture results, and urinalysis data. Only 3.4% of articles used a urine culture alone to define UTI., Conclusions: More articles that focus on children with spina bifida included a definition of UTI. However, significant variability persists in the definition of UTI in this patient population., Competing Interests: POTENTIAL CONFLICT OF INTEREST: The authors have no conflicts of interest relevant to this article to disclose., (Copyright © 2021 by the American Academy of Pediatrics.)

Spinal cord diseases in pediatric patients are highly variable in terms of presentation, pathology, and prognosis. Not only do they differ with respect to each other but so too with their adult equivalents. Some of the most common diseases are autoimmune (ie, multiple sclerosis, acute disseminated encephalomyelitis, and acute transverse myelitis), congenital (ie, dysraphism with spina bifida, split cord malformation, and tethered cord syndrome), tumor (ie, juvenile pilocytic astrocytoma, ependymoma, and hem-angioblastoma), and vascular (ie, cavernous malformations, arteriovenous malformations, and dural arteriovenous fistulas) in nature. These each require their own niche treatment paradigm and prognosis. Furthermore, presentation of different spinal cord diseases in children can be difficult to discern without epidemiologic and imaging data. Interpretation of these data is crucial to facilitating a timely and accurate diagnosis. Correspondingly, the aim of this review was to highlight the most pertinent features of the most common spinal cord diseases in the pediatric population., Competing Interests: AUTHOR DISCLOSUREDrs Lu and Niazi have disclosed no financial relationships relevant to this article. This commentary does not contain a discussion of an unapproved/investigative use of a commercial product/device., (© American Academy of Pediatrics, 2021. All rights reserved.)

Objective: Spina bifida (SB) is a congenital birth defect defined as a failure of the neural tube formation during the embryonic development phase. Fetoscopic repair of SB is a novel treatment technique that allows to close spinal defect early and prevent potential neurological and psychomotor complications., Case Report: We present a case report of a 32-year-old-multigravida whose fetus was diagnosed with lumbosacral myelomeningocele at 23rd week. Fetoscopic closure of MMC was performed at 26 weeks. At 32 weeks, due to premature amniorrhexis and placental abruption, an emergency C-section was performed. Newborn's psychomotor development was within normal limits., Conclusion: Although intrauterine treatment has an increased risk of premature labor, placental abruption, prenatal closure is associated with improved postnatal psychomotor development. Prenatal surgery decreases the risk of Arnold-Chiari II malformation development and walking disability. Fetoscopic closure of SB is becoming a choice for treatment with beneficial outcomes for mother and fetus., Competing Interests: Conflicts of interest The authors state no conflict of interest., (Copyright © 2021. Published by Elsevier B.V.)

For youth with spina bifida (SB), the transfer of medical responsibilities from parent- to self-management is an important component of autonomy development. Youth with SB are at risk for neurocognitive impairments with inattention and executive dysfunction, which may impact their ability to take responsibility for medical tasks. However, adaptive parenting may buffer against the negative impact of executive/attentional dysfunction on levels of medical responsibility. Thus, this study examined the moderating roles of parenting behaviors and child age on the longitudinal associations between neuropsychological functioning and medical responsibility in youth with SB. Participants were recruited as part of a larger, longitudinal study. Youth with SB ( N = 89, M age  = 11.10 years) completed a neuropsychological battery of executive functioning and attention measures at Time 1 (T1). Parents reported on youth's executive functioning/attention skills at T1, and child medical responsibility two years later at Time 2 (T2). Observational methods were used to assess parenting behaviors (warmth, behavioral and psychological control) at T1. Attention and cognitive shifting skills at T1 were positively related to child medical responsibility at T2. Two-way interactions between planning/organizing skills and paternal acceptance, and planning/organizing skills and paternal psychological control, were found. A three-way interaction between cognitive shifting skills, maternal acceptance, and child age was found. When conceptualizing risk factors for low medical responsibility in youth with SB, it is important to consider the family context beyond individual, cognitive factors. The results are discussed within the wider context of social-ecological models of medical responsibility.

Introduction: Isolated heterotopic pancreas (HP) as the primary cause of bowel intussusception is extremely rare. We report a case of a 33-year-old female patient with spina bifida admitted to the Emergency Surgical Department for ileal intussusception due to the presence of heterotopic pancreas associated with endometriosis., Areas Covered: Symptomatic ileal intussusception for ectopic pancreas is usually associated with overt gastrointestinal blood loss (predominantly melena), abdominal pain, vomiting, and weight loss. Treatment is universally surgical., Expert Commentary: Isolated heterotopic pancreas is a rare condition; it should be considered in the differential diagnosis of bowel intussusception.

Purpose: Tethered cord syndrome (TCS) is an occult spinal dysraphism that includes low lying conus, tight filum terminale, lipomeningomyelocele, split cord malformations, dermal sinus tracts, and dermoids. This congenital disorder has been associated with musculoskeletal, neurological, and gastrointestinal abnormalities. This study presents a retrospective review of the prospectively collected data of TCS patients and their concurrent diagnoses or associated anomalies., Methods: The National Inpatient Sample (NIS) database from 2003 to 2012 was used for data collection. Hospital- and year-adjusted weights allowed for accurate assessment of the incidence of TCS, as well as cardiac and gastrointestinal (GI) and genitourinary (GU) anomalies. K-means clustering analysis was run to discover patterns of concurrent cardiac, GI, GU, and other system anomalies in TCS patients., Results: A total of 13,470 discharges with a diagnosis of TCS were identified in the NIS database, and at least one additional anomaly was identified in 40.7% of TCS patients. The most common secondary anomalies by system were: spine (24.48%), cardiac (6.27%), and urinary (5.37%). For patients with multiple anomalies, the most common combinations were GI and cardiac (4.55%), urinary and GI (4.26%), and urinary and cardiac (4.19%). The most common spinal association was spina bifida (13.65%). The most common neurological or musculoskeletal anomaly was any VACTERL association (13.45%). The top relation in GI and GU anomalies was cervix and female genitalia anomalies (69.1%). The most common specific anomalies were spina bifida, large intestine atresia, Rubenstein-Taybi syndrome, and atrial and ventral septal defects., Conclusion: This study provides a nationwide prospective on congenital anomalies and concurrent conditions present in tethered cord syndrome patients in the United States and demonstrates that 40.7% of TCS patients have at least one associated anomaly. The most common congenital anomalies studied were spina bifida, urogenital with or without cardiac septal defects, and cystourethral anomaly or cystic kidney disease with or without large intestinal atresia.

Introduction: Four-hour voiding observation with provocation test (VOP) using a scale, a damp detector and ultrasound for determination of residuals, is an easily performed non-invasive method for the evaluation of bladder function in newborns. Neonatal bladder function evaluated with VOP has been described for healthy newborns (HN) but not for children with spinal dysraphism (SD), for whom early bladder evaluation is essential for decisions regarding Clean Intermittent Catheterization and follow-up. The aim of the present study was to describe voiding observation with provocation test in newborns with spinal dysraphism and compare with corresponding data for healthy newborns., Methods and Materials: At a tertiary hospital, a 4 h voiding observation with provocation (VOP) was performed in 50 neonates (22 girls, 28 boys) with spinal dysraphism (37 open SD, 13 closed SD) consecutively evaluated for possible neurogenic bladder-sphincter dysfunction (1998-2019). All newborns with open SD and 4/13 with closed SD had been through postnatal neurosurgery before the test. Mean age was 10 days. Voiding observation was performed during 4 h with visual observation the fourth hour recording behavior and urinary flow (e.g. stream, dribbling). Finally, bladder provocations (e.g. suprapubic compression) were performed, and any leakage was noted. Findings were compared to those of 50 healthy newborns (HN) earlier published (Gladh et al., 2002). There were no significant differences in background data such as gender, age or diuresis between newborns with SD and HN., Results and Discussion: Voiding observation with provocation test of children with SD revealed significant differences compared to HN see summary table. Some children with SD had frequent small voids/leakages and low bladder volumes while three had no voiding and high volumes. Leakage during bladder provocation test and not voiding with a stream was not seen in HN but were common in newborns with SD (69% resp. 74%) (p < 0.01). A child with these findings should thus be investigated further. Identifying children needing Clean Intermittent Catheterization is important as well as being able to postpone or refrain from invasive urodynamic studies if not strongly indicated. VOP may give valuable information for these judgements., Conclusion: Newborns with spinal dysraphism differ from healthy newborns in many aspects of bladder function. Bladder function varies between newborns with closed and open spinal dysraphism. Many newborns with spinal dysraphism leak at bladder provocation and void without a stream but healthy newborns do not. Early determination of post-void residuals is mandatory in children with spinal dysraphism and non-invasive VOP gives this information in a standardized way, also adding information on frequency, voiding with a stream and leakage at provocation., Competing Interests: Conflicts of interest Authors have no relevant conflict of interest., (Copyright © 2020 The Author(s). Published by Elsevier Ltd.. All rights reserved.)

Anorectal malformation (ARM) is the most common symptom in VACTERL syndrome (vertebral, anal, cardiac, tracheo-esophageal fistula, renal, and limb anomalies). The association of ARM and spinal dysraphisms (DYS) is well documented. We aim to better evaluate children with VACTERL association and ARM, considering the presence or not of DYS. Between 2000 and 2015, 279 children with VACTERL associations were identified in Necker Children's Hospital, Paris. We identified 61 VACTERL children (22%) with ARM. A total of 52 VACTERL children with ARM were included. DYS were identified in 36/52 of cases (69.2%). A total of 33 (63.5%) VACTERL children presented with sphincterial dysfunction. We constated that 28/33 (84.8%) of them had DYS + (p < 0.0001). More children in ARM (DYS +) subgroup are presenting with initial urinary sphincter dysfunction (58 vs 19%, p < 0.009) than ARM (DYS -). We identified 29 lipoma filum in our series, which were not statistically associated with urinary disorders (p = 0.143).Conclusion: We propose to refine the definition of VACTERL association, by adding S as Spinal defect to include it as an integral part of this syndrome, resulting in a novel acronym V.A.C.TE.R.L.S.What is Known:• The VACTERL association: congenital anomalies of the bony vertebral column (V), anorectal malformation (A), congenital cardiopathy (C), tracheo-esophageal defects (TE), renal and urinary tract anomalies (R), and limb malformations (L).• VACTERL children needs a complete appraisal, as early as possible, to adopt the most appropriate therapeutic management.What is New:• Include spine dysraphism (DYS) as a part of this syndrome, resulting in a novel acronym V.A.C.TE.R.L.S.• The significant correlation between VACTERL/DYS and urinary dysfunction requires to investigate the spine cord prenatally.

DNA damage response (DDR) genes orchestrating the network of DNA repair, cell cycle control, are essential for the rapid proliferation of neural progenitor cells. To date, the potential association between specific DDR genes and the risk of human neural tube defects (NTDs) has not been investigated. Using whole-genome sequencing and targeted sequencing, we identified significant enrichment of rare deleterious RAD9B variants in spina bifida cases compared to controls (8/409 vs. 0/298; p = .0241). Among the eight identified variants, the two frameshift mutants and p.Gln146Glu affected RAD9B nuclear localization. The two frameshift mutants also decreased the protein level of RAD9B. p.Ser354Gly, as well as the two frameshifts, affected the cell proliferation rate. Finally, p.Ser354Gly, p.Ser10Gly, p.Ile112Met, p.Gln146Glu, and the two frameshift variants showed a decreased ability for activating JNK phosphorylation. RAD9B knockdowns in human embryonic stem cells profoundly affected early differentiation through impairing PAX6 and OCT4 expression. RAD9B deficiency impeded in vitro formation of neural organoids, a 3D cell culture model for human neural development. Furthermore, the RNA-seq data revealed that loss of RAD9B dysregulates cell adhesion genes during organoid formation. These results represent the first demonstration of a DDR gene as an NTD risk factor in humans., (© 2020 Wiley Periodicals, Inc.)

Objective: To estimate the risk of stillbirth (fetal death at 20 weeks of gestation or more) associated with specific birth defects., Methods: We identified a population-based retrospective cohort of neonates and fetuses with selected major birth defects and without known or strongly suspected chromosomal or single-gene disorders from active birth defects surveillance programs in nine states. Abstracted medical records were reviewed by clinical geneticists to confirm and classify all birth defects and birth defect patterns. We estimated risks of stillbirth specific to birth defects among pregnancies overall and among those with isolated birth defects; potential bias owing to elective termination was quantified., Results: Of 19,170 eligible neonates and fetuses with birth defects, 17,224 were liveborn, 852 stillborn, and 672 electively terminated. Overall, stillbirth risks ranged from 11 per 1,000 fetuses with bladder exstrophy (95% CI 0-57) to 490 per 1,000 fetuses with limb-body-wall complex (95% CI 368-623). Among those with isolated birth defects not affecting major vital organs, elevated risks (per 1,000 fetuses) were observed for cleft lip with cleft palate (10; 95% CI 7-15), transverse limb deficiencies (26; 95% CI 16-39), longitudinal limb deficiencies (11; 95% CI 3-28), and limb defects due to amniotic bands (110; 95% CI 68-171). Quantified bias analysis suggests that failure to account for terminations may lead to up to fourfold underestimation of the observed risks of stillbirth for sacral agenesis (13/1,000; 95% CI 2-47), isolated spina bifida (24/1,000; 95% CI 17-34), and holoprosencephaly (30/1,000; 95% CI 10-68)., Conclusion: Birth defect-specific stillbirth risk was high compared with the U.S. stillbirth risk (6/1,000 fetuses), even for isolated cases of oral clefts and limb defects; elective termination may appreciably bias some estimates. These data can inform clinical care and counseling after prenatal diagnosis.

Objective: To investigate computed tomography (CT) texture analysis of the bladder wall as a predictor of urodynamics findings in adult patient with spina bifida., Methods: A single-center prospective trial was conducted from March 2015 to March 2017 including all consecutive adult spina bifida patients seen for urodynamic testing. A contrast-enhanced abdominal CT was systematically performed in all patients during the same visit. Texture features of the bladder wall related to the gray-level histogram and gray-level co-occurrence were evaluated on CT images. Multivariate analysis was performed to identify independent predictors of poor bladder compliance and detrusor overactivity among clinical and texture parameters., Results: Fourty patients were included. The Lasso penalized logistic regression analysis identified 2 texture parameters as potential predictors of poor bladder compliance: Skewness (coefficient weight, -1.81) and S.1.1.SumVarnc (coefficient weight, -3.52). Multivariate logistic regression analysis confirmed skewness (odds ratio [confidence interval 95%] = 0.40 [0.14, 0.97], P = .04) as an independent predictor of poor bladder compliance. The Lasso penalized logistic regression analysis identified one texture parameters as potential predictor of detrusor overactivity: Kurtosis (coefficient weight, -3.52), which was confirmed in multivariate logistic regression analysis (odds ratio [confidence interval 95%] = 1.12 [1.01, 1.55], P = .02)., Conclusion: Our findings demonstrate that CT texture analysis of the bladder wall might be an interesting tool to identify spina bifida patients with high risk urodynamic features., (Copyright © 2019 Elsevier Inc. All rights reserved.)

Purpose: The measurement of Quality of life (QOL) in adolescents and especially in adolescents with disabilities is limited, often by an assessment of function rather than perception. This analysis explores QOL in adolescents and young adults (AYA) with and without Spina Bifida (SB) from the perspective of AYA and their parents., Design and Methods: A descriptive study using content analysis was conducted as a component of a larger multi-site mixed-method study of secondary conditions and adaptation. Participants responded to a single open-ended question on the meaning of quality of life., Results: Descriptive accounts from 209 families generated the following shared categories: an engaged family, a positive life, the goal of independence, being healthy, essential needs for living, having friends, relying on faith, and romantic relationships. A unique category emerged from parents, doing what AYA wants to do., Conclusions: Family was the most frequently nominated component of QOL. The centrality of family in QOL is an important finding generally not assessed in measures of QOL or even less in health-related QOL instruments., Practice Implications: Findings illustrate the importance of evaluating overall QOL from the perspective of AYA and their parents., (Copyright © 2019 Elsevier Inc. All rights reserved.)

Background: Neural tube defects (NTDs) are an important category of birth defect, but surveillance remains inadequate in South Africa., Objectives: 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., Methods: 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., Results: 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&lt;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&lt;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., Conclusions: 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.

Introduction: Significant numbers of young adults with chronic health conditions fail to transition., Objective: The aim of the study was to evaluate how ready transitioned urologic patients were for that process. Owing to the cognitive impairments frequently seen with spina bifida (SB), it is hypothesized that these individuals will be less prepared to transition their medical care to adult providers compared with their healthy counterparts., Methods: Participants included consecutive patients in the transitional SB clinic at the study institution and controls (college students without obvious physical disability or interest in healthcare-related fields aged 18-25 years). Both groups were administered the Transition Readiness Assessment Questionnaire (TRAQ) over a nine-month period. Five TRAQ domains assess 20 skills necessary to transition. Likert scale responses range from 1 "no, I do not know how" to 5 "yes, I always do this when I need to" (which the authors considered appropriate for transitioned patients). Demographics and the number of daily medications taken were collected. Patients and healthy controls were compared using (1) total and domain TRAQ scores, (2) the proportion of non-transitioned skills ("1"), and (3) fully transitioned skills ("5"). Non-parametric statistics were used., Results: Forty-three unique SB patients (30.8% shunted, 46.5% female) and 100 controls were enrolled. Patients with SB were older than controls (21 vs 20 years, p < 0.001). There was no gender difference between groups (p = 0.33). Transitioned patients and college students were fully transitioned only in the "Talking with Providers" domain (Figure). College students performed significantly better than patients in the domains of "Appointment Keeping" (p = 0.04) and "Tracking Health Issues" (p = 0.02). Transitioned patients were less likely to be interested in learning how to perform skills in the domains of "Appointment Keeping" and "Tracking Health Issues" (p < 0.001 for both domains)., Discussion: The transition readiness of young adults with SB compared to healthy controls and other youths with chronic health conditions is described. The limitations include the small sample size, potentially limiting generalizability, and cross-sectional nature., Conclusion: "Transitioned" patients with SB had lower TRAQ scores in some domains compared to healthy college students, who themselves had scores indicating that they were not fully ready for transition. Increased attention to transition readiness in people with SB is necessary, as even healthy young adults struggle with these tasks and are poorly prepared for transition., (Copyright © 2019 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.)

Background: Pregnant women with congenital or acquired spinal cord injury face challenges due to compromised neurologic function and mobility, factors that may also affect fetal/infant health. Few studies have examined pregnancy course and longer-term outcomes in this population., Objective: To assess pregnancy outcomes among women with spinal cord injury, paralysis, or spina bifida using population-based data., Design: Retrospective cohort study., Setting: Washington state linked birth-hospital discharge records., Participants: All women (N = 529) with spinal cord injury, paralysis, or spina bifida with singleton live birth deliveries 1987-2012, and a comparison group of women without disabilities (N = 5282)., Methods: Diagnosis codes were screened to identify cases and a 10:1 random sample of comparison women. Relative risks (RRs) and 95% confidence intervals (CIs) were calculated overall and separately for each condition using multivariable regression. Subsequent hospitalizations or death were identified via linkage to hospital discharge/death records for 2 years after delivery., Main Outcome Measurements: Pregnancy course (weight gain, gestational diabetes, preeclampsia, infection, venous thromboembolism), delivery/labor characteristics, infant characteristics (birthweight/size, gestational age), and longer-term outcomes (occurrence/reasons for maternal/infant rehospitalization, mortality)., Results: Women with these spinal conditions had increased adjusted risks of prenatal urinary tract infection/pyelonephritis (RR 26.43, 95% CI 13.97-49.99), venous thromboembolism (RR 9.16, 95% CI 2.17-38.60), preterm rupture of membranes (RR 2.15, 95% CI 1.18-3.90), and cesarean delivery (RR 1.88, 95% CI 1.70-2.09). They had longer hospitalizations and increased rehospitalization (RR 1.54, 95% CI 1.28-1.87), including for postpartum depression (RR 8.15, 4.29-15.48) or injury (RR 13.05, 95% CI 6.60-25.81). Their infants were more often small for gestational age (RR 1.65, 95% CI 1.33-2.06), but had no increased risk of rehospitalization or death., Conclusions: We observed no increased long-term morbidity among infants of women with these conditions. Possible increased maternal morbidities during the first postpartum years indicate areas for intervention., Level of Evidence: III., (© 2019 American Academy of Physical Medicine and Rehabilitation.)

Shprintzen-Goldberg syndrome (SGS) is a rare systemic connective tissue disorder characterized by craniofacial, skeletal, and cardiovascular manifestations. It is associated with a significant risk of intellectual disability, a feature which distinguishes it from Marfan and Loeys-Dietz syndromes. SGS is mainly caused by mutations in the SKI gene, a repressor of TGF-β activity. Most SKI mutations are found in exon 1 of the gene and are located in the R-SMAD domain, a proposed hotspot for de novo mutations. Here, we report on a de novo SKI mutation located in the DHD domain of SKI. By adding our finding to previously reported de novo SKI mutations, a new mutational hotspot in the DHD domain is proposed. Our patient presented with a lipomeningomyelocele, tethered cord, and spina bifida but with no SGS-related clinical findings apart from a marfanoid habitus and long slender fingers. Specifically, she did not have an intellectual disability, craniofacial, or cardiovascular abnormalities. By comparing the clinical findings on patients with mutations in the R-SMAD and DHD domains of SKI, we propose that mutations in those domains have different effects on TGF-β activity during embryonic development with resulting phenotypic differences., (© 2019 Wiley Periodicals, Inc.)

Linked Comment: Ultrasound Obstet Gynecol 2018; 53: 293-301 Linked Comment: Ultrasound Obstet Gynecol 2018; 53: 302-308 Linked Comment: Ultrasound Obstet Gynecol 2018; 53: 309-313., (Copyright © 2019 ISUOG. Published by John Wiley & Sons Ltd.)

Objective: Compare the performance of first trimester ultrasound biparietal diameter (BPD) screening for open spina bifida (OSB) when BPD is adjusted for crown-rump length (CRL) or abdominal circumference (AC)., Methods: For 63 OSB and 24 265 unaffected pregnancies, BPD was expressed as multiple of the normal median (MoM) based on CRL and on AC, and as the ratio BPD/AC. Screening performance was assessed by the Mahalanobis distance, the observed detection rate with normal fifth and 10th percentile cut-offs and the area under the receiver-operator characteristic curve (AUC)., Results: Mahalanobis distance for BPD MoM was considerably higher when based on AC than on CRL: 1.69 versus 1.14. Screening performance was also higher: using a fifth percentile cut-off, the detection rate was 59% compared with 41%; using a 10th percentile cut-off, the rates were 63% and 51%. Whilst the false-positives rates were slightly higher too-5.3% versus 5.1% and 10.8% versus 9.9%-the AUC was statistically significantly higher: 0.872 (95% CI, 0.816-0.928) compared with 0.735 (95% CI, 0.664-0.806). BPD/AC had intermediate performance., Conclusion: The best results are obtained when AC, rather than CRL, is used to express BPD values in MoMs. First trimester OSB screening can detect half to two-thirds of cases., (© 2019 John Wiley & Sons, Ltd.)

Background: Gait analysis provides quantitative data that can be used to supplement standard clinical evaluation in identifying and understanding gait problems. It has been established that gait analysis changes treatment decision making for children with cerebral palsy, but this has not yet been studied in other diagnoses such as spina bifida., Research Question: To determine the effects of gait analysis data on pathology identification and surgical recommendations in children with spina bifida., Methods: Two pediatric orthopaedic surgeons and two therapists with >10 years of experience in gait analysis reviewed clinical, video, and gait analysis data from 43 ambulatory children with spina bifida (25 male; mean age 11.7 years, SD 3.8; 25 sacral, 18 lumbar). Primary gait pathologies were identified by each assessor both before and after consideration of the gait analysis data. Surgical recommendations were also recorded by the surgeons before and after consideration of the gait analysis data. Frequencies of pathology and surgery identification with and without gait analysis were compared using Fisher's exact test, and percent change in pathology and surgery identification was calculated., Results: Pathology identification often changed for common gait problems including crouch (28% of cases), tibial rotation (35%), pes valgus (18%), excessive hip flexion (70%), and abnormal femur rotation (75%). Recognition of excessive hip flexion and abnormal femur rotation increased significantly after consideration of gait analysis data (p < 0.05). Surgical recommendations also frequently changed for the most common surgeries including tibial derotation osteotomy (30%), antero-lateral release (22%), plantar fascia release (33%), knee capsulotomy (25%), 1 st metatarsal osteotomy (60%), and femoral derotation osteotomy (89%). At the patient level, consideration of gait analysis data altered surgical recommendations for 44% of patients., Significance: Since gait analysis data often changes pathology identification and surgical recommendations, treatment decision making may be improved by including gait analysis in the patient care process., (Copyright © 2018 Elsevier B.V. All rights reserved.)

Purpose: The aim of the current study was to determine the outcomes of botulinum toxin A intradetrusor injections in adult patients with spina bifida., Materials and Methods: All patients with spinal dysraphism who underwent intradetrusor injections of botulinum toxin A from 2002 to 2016 at a total of 14 centers were retrospectively included in analysis. The primary end point was the global success of injections, defined subjectively as the combination of urgency, urinary incontinence and detrusor overactivity/low bladder compliance resolution. Univariate and multivariate analysis was performed to seek predictors of global success., Results: A total of 125 patients were included in study. The global success rate of the first injection was 62.3% with resolution of urinary incontinence in 73.5% of patients. All urodynamic parameters had improved significantly by 6 to 8 weeks compared to baseline, including maximum detrusor pressure (-12 cm H 2 O, p <0.001), maximum cystometric capacity (86.6 ml, p <0.001) and compliance (8.9 ml/cm H 2 O, p = 0.002). A total of 20 complications (3.6%) were recorded for the 561 intradetrusor botulinum toxin A injections, including 3 muscular weakness complications. The global success rate of the first injection was significantly lower in patients with poor compliance (34.4% vs 86.9%, OR 0.08, p <0.001). On multivariate analysis poor compliance was associated with a lower global success rate (OR 0.13, p <0.001). Female gender (OR 3.53, p = 0.01) and patient age (OR 39.9, p <0.001) were predictors of global success., Conclusions: Intradetrusor botulinum toxin A injections were effective in adult patients with spina bifida who had detrusor overactivity. In contrast, effectiveness was much lower in adult patients with spina bifida who had poor bladder compliance. The other predictors of global success were female gender and older age., (Copyright © 2018 American Urological Association Education and Research, Inc. Published by Elsevier Inc. All rights reserved.)