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JAMA Aug 2023Neural tube defects are among the most common birth defects in the US.
IMPORTANCE
Neural tube defects are among the most common birth defects in the US.
OBJECTIVE
To review new evidence on the benefits and harms of folic acid supplementation for the prevention of neural tube defects to inform the US Preventive Services Task Force.
EVIDENCE REVIEW
Sources included PubMed, Cochrane Library, Embase, and trial registries from July 1, 2015, through July 2, 2021; references; and experts, with surveillance through February 10, 2023. Two investigators independently reviewed English-language randomized studies and nonrandomized cohort studies in very highly developed countries that focused on the use of folic acid supplementation for the prevention of neural tube defect-affected pregnancies; methodological quality was dually and independently assessed.
FINDINGS
Twelve observational studies (reported in 13 publications) were eligible for this limited update (N = 1 244 072). Of these, 3 studies (n = 990 372) reported on the effect of folic acid supplementation on neural tube defects. For harms, 9 studies were eligible: 1 randomized clinical trial (n = 431) reported on variations in twin delivery, 7 observational studies (n = 761 125) reported on the incidence of autism spectrum disorder, and 1 observational study (n = 429 004) reported on maternal cancer. Two cohort studies and 1 case-control study newly identified in this update reported on the association between folic acid supplementation and neural tube defects (n = 990 372). One cohort study reported a statistically significant reduced risk of neural tube defects associated with folic acid supplementation taken before pregnancy (adjusted relative risk [aRR], 0.54 [95% CI, 0.31-0.91]), during pregnancy (aRR, 0.62 [95% CI, 0.39-0.97]), and before and during pregnancy (aRR, 0.49 [95% CI, 0.29-0.83]), but this association occurred for only the later of 2 periods studied (2006-2013 and not 1999-2005). No other statistically significant benefits were reported overall. No study reported statistically significant harms (multiple gestation, autism, and maternal cancer) associated with pregnancy-related folic acid exposure.
CONCLUSIONS AND RELEVANCE
New evidence from observational studies provided additional evidence of the benefit of folic acid supplementation for preventing neural tube defects and no evidence of harms related to multiple gestation, autism, or maternal cancer. The new evidence was consistent with previously reviewed evidence on benefits and harms.
Topics: Female; Humans; Pregnancy; Autism Spectrum Disorder; Dietary Supplements; Folic Acid; Neural Tube Defects; Randomized Controlled Trials as Topic; Pregnancy Complications; Risk; Preconception Care; Prenatal Care
PubMed: 37526714
DOI: 10.1001/jama.2023.9864 -
Archives of Disease in Childhood. Fetal... Dec 2023To describe families' experiences of antenatal counselling of spina bifida.
OBJECTIVE
To describe families' experiences of antenatal counselling of spina bifida.
DESIGN
Systematic review.
METHODS
MEDLINE, CINAHL, PsycINFO and Embase databases were searched using a combination of Medical Subject Headings and text/abstract terms. Case reports, survey results and qualitative interview data were included. The quality of research was evaluated using the Critical Appraisal Skills Programme checklist.
RESULTS
8 papers were included. Families described shock and grief at diagnosis, with some immediately offered termination of pregnancy (TOP) even though they knew little about the condition. Positive and negative aspects of care were found. Teams that were gentle, kind and empathetic, who did not use jargon, and highlighted positive and negative aspects of the baby's life were seen favourably. Callous language, and overly negative or incorrect counselling was not, particularly if there was pressure to agree to TOP. Families based their decisions on how they would cope, the effect on siblings and the baby's likely quality of life. Prenatal surgery was viewed positively. The views of families who chose TOP, were happy with their care, partners, families, and the LGBTQ+ community were under-represented in the literature.
CONCLUSIONS
Unlike other conditions where limited data on outcome exist or the spectrum is genuinely broad, the outcomes of children with spina bifida is well described. Poor aspects of antenatal counselling were described frequently by families, and further work is needed to capture the full spectrum of views on antenatal counselling, how it can be improved, and what training and resources healthcare professionals need to perform it better.
Topics: Child; Infant; Humans; Pregnancy; Female; Quality of Life; Spinal Dysraphism; Health Personnel; Abortion, Induced
PubMed: 37433589
DOI: 10.1136/archdischild-2023-325391 -
Nutrients Apr 2023Maternal dietary factors have been suggested as possible contributing influences for congenital anomalies (CAs). We aimed to assess the association between vitamin D... (Meta-Analysis)
Meta-Analysis Review
Maternal dietary factors have been suggested as possible contributing influences for congenital anomalies (CAs). We aimed to assess the association between vitamin D supplementation or vitamin D status (s-25OHD) during pregnancy and CAs in the offspring. A comprehensive literature search was conducted in the three electronic databases: PubMed, Embase, and Cochrane Library. Included studies were critically appraised using appropriate tools (risk of bias 2, ROBINS-I). A protocol was registered in the International Prospective Register of Systematic Reviews (CRD42019127131). A meta-analysis of four randomised controlled trials (RCTs) including 3931 participants showed no effect of vitamin D supplementation on CAs, a relative risk of 0.76 (95% CI 0.45; 1.30), with moderate certainty in the effect estimates by GRADE assessment. Of the nine identified observational studies, six were excluded due to a critical risk of bias in accordance with ROBINS-I. Among the included observational studies, two studies found no association, whereas one case-control study identified an association between s-25OHD < 20 nmol/L and neural tube defects, with an adjusted odds ratio of 2.34 (95% CI: 1.07; 5.07). Interpretation of the results should be cautious given the low prevalence of CAs, RCTs with onset of supplementation after organogenesis, and low-quality observational studies.
Topics: Female; Pregnancy; Humans; Vitamin D; Vitamins; Neural Tube Defects; Case-Control Studies; Dietary Supplements
PubMed: 37432271
DOI: 10.3390/nu15092125 -
International Journal of Pediatrics 2023Neural tube defects are a type of congenital anomaly caused by an abnormality in the development of the brain and spinal cord during embryogenesis. They cause high rates... (Review)
Review
BACKGROUND
Neural tube defects are a type of congenital anomaly caused by an abnormality in the development of the brain and spinal cord during embryogenesis. They cause high rates of mortality, morbidity, and lifelong disability. There are several studies carried out worldwide reporting different findings on the burden and associated factors. The aim of this study is to carry out a systematic review and meta-analysis of the burden of neural tube defects and their associated factors in Africa.
METHODS
A total of 58 eligible articles were identified systematically using databases such as PubMed, Embase, African Journal Online Library, ProQuest, Cochrane, Google Scopus, Google Scholar, and Grey literature. Extracted data were analyzed using STATA 16.0 statistical software. The heterogeneity of studies was determined using the Cochrane Q test statistic and test statistics with forest plots. A random effects model was used to examine the pooled burden of neural tube defects, subgroups of the region, subtypes of NTDs, sensitivity analysis, and publication bias. The association between NTDs and associated factors was studied using a fixed-effect model.
RESULTS
Fifty-eight studies with a total of 7,150,654 participants in 16 African countries revealed that the pooled burden of neural tube defects was 32.95 per 10,000 births (95% CI: 29.77-36.13). The Eastern African region had the highest burden in the subgroup analysis, with 111.13 per 10,000 births (95% CI: 91.85-130.42). South African countries had the lowest burden, at 11.43 per 10,000 births (95% CI: 7.51-15.34). In subtype analysis, spina bifida had the highest pooled burden at 17.01 per 10,000 births (95 percent CI: 15.00-19.00), while encephalocele had the lowest at 1.66 per 10,000 births (95% CI: 1.12-2.20). Maternal folic acid supplementation (AOR: 0.38; 95% CI: 0.16-0.94), alcohol consumption (AOR: 2.54; 95% CI: 1.08-5.96), maternal age (AOR: 3.54; 95% CI: 1.67-7.47), pesticide exposure (AOR: 2.69; 95% CI: 1.62-4.46), X-ray radiation (AOR: 2.67; 95% CI: 1.05-6.78), and history of stillbirth (AOR: 3.18; 95% CI: 1.11-9.12) were significantly associated with NTDs.
CONCLUSION
The pooled burden of NTDs in Africa was found to be high. Maternal age, alcohol consumption, pesticide and X-ray radiation exposure, history of stillbirth, and folic acid supplementation were significantly associated with NTDs.
PubMed: 37388625
DOI: 10.1155/2023/9635827 -
PloS One 2023We performed a systematic review and meta-analysis on the incidence of secondary tethered spinal cord (TSC) between prenatal and postnatal closure in patients with MMC.... (Meta-Analysis)
Meta-Analysis
INTRODUCTION
We performed a systematic review and meta-analysis on the incidence of secondary tethered spinal cord (TSC) between prenatal and postnatal closure in patients with MMC. The objectives was to understand the incidence of secondary TSC after prenatal surgery for MMC compared to postnatal surgery for MMC.
MATERIAL AND METHODS
On May 4, 2023, a systematic search was conducted in Medline, Embase, and the Cochrane Library to gather relevant data. Primary studies focusing on repair type, lesion level, and TSC were included, while non-English or non-Dutch reports, case reports, conference abstracts, editorials, letters, comments, and animal studies were excluded. Two reviewers assessed the included studies for bias risk, following PRISMA guidelines. TSC frequency in MMC closure types was determined, and the relationship between TSC occurrence and closure technique was analyzed using relative risk and Fisher's exact test. Subgroup analysis revealed relative risk differences based on study designs and follow-up periods. A total of ten studies, involving 2,724 patients, were assessed. Among them, 2,293 patients underwent postnatal closure, while 431 received prenatal closure for the MMC defect. In the prenatal closure group, TSC occurred in 21.6% (n = 93), compared to 18.8% (n = 432) in the postnatal closure group. The relative risk (RR) of TSC in patients with prenatal MMC closure versus postnatal MMC closure was 1.145 (95%CI 0.939 to 1.398). Fisher's exact test indicated a statistically non-significant association (p = 0.106) between TSC and closure technique. When considering only RCT and controlled cohort studies, the overall RR for TSC was 1.308 (95%CI 1.007 to 1.698) with a non-significant association (p = .053). For studies focusing on children up until early puberty (maximum 12 years follow-up), the RR for tethering was 1.104 (95%CI 0.876 to 1.391), with a non-significant association (p = 0.409).
CONCLUSION AND DISCUSSION
This review found no significant increase in relative risk of TSC between prenatal and postnatal closure in MMC patients, but a trend of increased TSC in the prenatal group. More long-term data on TSC after fetal closure is needed for better counseling and outcomes in MMC.
Topics: Humans; Female; Pregnancy; Meningomyelocele; Fetus; Neurosurgical Procedures; Incidence; Spinal Cord
PubMed: 37379312
DOI: 10.1371/journal.pone.0287175 -
Roczniki Panstwowego Zakladu Higieny 2023Folic acid (folacin, B9) is a vitamin that performs many very important functions in the human body, and its inadequate level - deficiency as well as excess, may...
Folic acid (folacin, B9) is a vitamin that performs many very important functions in the human body, and its inadequate level - deficiency as well as excess, may contribute to an increased risk of developing many disease processes. The aim of this study was to analyze the available scientific literature on folic acid and its impact on human health. A systematic review of the studies, published until November 2022, was made on the basis of searching bibliographic databases such as: PubMed, Elsevier and Google Scholar. The following keywords and combinations were used: folic acid, folate, folic acid supplementation, folate deficiency. Folic acid, thanks to its high biological activity, has a direct and indirect effect on the metabolism of the human body cells. It plays a very important role, among others in the prevention of neural tube defects and megaloblastic anemia, the proper functioning of the nervous system, as well as reducing the risk of developing certain cancers. Currently, the important role of folic acid in maintaining the proper functioning of the immune system is also emphasized, which is of particular importance both in the prevention and in the situation of SARS-CoV-2 (COVID-19) infection. The effects of deficiency and excess of vitamin B9 may turn out to be dangerous to health and even life. There is a need for nutritional and health education of the society regarding the importance of folic acid for human health, due to the presence of large deficiencies in the population, which is particularly important for some social groups, such as, for example, women of procreation age, pregnant or breastfeeding, people with a nutrient malabsorption, and people who smoke or abuse alcohol.
Topics: Pregnancy; Humans; Female; Folic Acid; COVID-19; SARS-CoV-2; Vitamins; Breast Feeding
PubMed: 37309846
DOI: 10.32394/rpzh.2023.0252 -
American Journal of Obstetrics &... Aug 2023This study aimed to investigate prenatal predictors of the need for cerebrospinal fluid diversion in infants following prenatal repair of open spina bifida. (Meta-Analysis)
Meta-Analysis Review
OBJECTIVE
This study aimed to investigate prenatal predictors of the need for cerebrospinal fluid diversion in infants following prenatal repair of open spina bifida.
DATA SOURCES
A systematic search was performed to identify relevant studies published from inception until June 2022 in the English language using the databases PubMed, Scopus, and Web of Science.
STUDY ELIGIBILITY CRITERIA
We included retrospective and prospective cohort studies and randomized controlled trials reporting on prenatal repair of open spina bifida.
METHODS
The random-effects model was used to pool the mean differences or odds ratios and the corresponding 95% confidence intervals. Heterogeneity was assessed using the I value.
RESULTS
A total of 9 studies including 948 pregnancies undergoing prenatal repair of open spina bifida were included in the final analysis. Prenatal factors that were significantly associated with the need for postnatal cerebrospinal fluid diversion were gestational age at surgery ≥25 weeks (odds ratio, 4.2; 95% confidence interval, 1.8-9.9; I=54%; P=.001), myeloschisis (odds ratio, 2.2; 95% confidence interval, 1.1-4.1; I=0.0%; P=.02), preoperative lateral ventricle width ≥15 mm (odds ratio, 4.5; 95% confidence interval, 2.9-6.9; I=0.0%; P<.0001), predelivery lateral ventricle width (mm) (mean difference, 8.3; 95% confidence interval, 6.4-10.2; I=0.0%; P<.0001), and preoperative lesion level at T12-L2 (odds ratio, 2.5; 95% confidence interval, 1.03-6.3; I=68%; P=.04). Factors that significantly reduced the need for postnatal shunt placement were gestational age at surgery <25 weeks (odds ratio, 0.3; 95% confidence interval, 0.15-0.6; I=67%; P=.001) and preoperative lateral ventricle width <15 mm (odds ratio, 0.3; 95% confidence interval, 0.2-0.4; I=0.0%; P<.0001).
CONCLUSION
This study demonstrated that among fetuses that underwent surgical repair of open spina bifida, having gestational age at surgery of ≥25 weeks, preoperative lateral ventricle width of ≥15 mm, myeloschisis lesion type, and preoperative lesion level above L3 was predictive of the need for cerebrospinal fluid diversion during the first year of life.
Topics: Pregnancy; Female; Infant; Humans; Spina Bifida Cystica; Retrospective Studies; Prospective Studies; Meningomyelocele; Prenatal Care
PubMed: 37098391
DOI: 10.1016/j.ajogmf.2023.100983 -
Child's Nervous System : ChNS :... Aug 2023Occipital encephalocele (OE) is one of congenital malformation of the central nervous system. However, giant OE, mostly defines as bigger-than-head OE, is extremely rare...
PURPOSE
Occipital encephalocele (OE) is one of congenital malformation of the central nervous system. However, giant OE, mostly defines as bigger-than-head OE, is extremely rare and carries a worse prognosis. Here, we presented our systematic review of the management of the giant OE and illustrated our case.
METHOD
The systematic review was carried out under PRISMA guidelines. Publications were searched under "occipital encephalocele" from 1959 to April 2021. Our primary area of interest was the outcome of patients who have undergone surgery for giant OE. Variables of interest included age, sex, size of the sac, presentations, associated anomalies, management, outcome, and follow-up period were collected.
RESULT
We collected 35 articles, consisting of 74 cases (including 1 case from our illustrative case), to perform a systematic review. The mean age at the time of surgery was 3.53 ± 8.22 months. The mean circumference of the sac was 52.41 ± 18.6 cm. The three most common associated anomalies were microcephaly, corpus callosal agenesis/dysgenesis, and Chiari malformation. After the surgery, survival was reported in 64 (90.1%) patients. Postoperative complications were reported in 14 cases (16 events). Age above 1 month at the time of surgery was significantly associated with survival (p = 0.02) but not with complication (p = 0.22). In contrast, the type of surgery was not associated with survival (p = 0.18) or complications (p = 0.41).
CONCLUSION
Despite a rare condition with a poor prognosis, our reported case and systematic review revealed promising outcomes of surgery regardless of surgical strategies, especially in patients older than 1 month. Thus, appropriate planning is essential for the treatment of this condition.
Topics: Humans; Infant; Encephalocele; Arnold-Chiari Malformation; Prognosis; Microcephaly; Central Nervous System
PubMed: 37076587
DOI: 10.1007/s00381-023-05934-z -
Child's Nervous System : ChNS :... Aug 2023Trans-sellar trans-sphenoidal encephalocele is a rare congenital anomaly, with only around 20 cases having been documented in literature around the world. Surgical...
Trans-sellar trans-sphenoidal encephalocele is a rare congenital anomaly, with only around 20 cases having been documented in literature around the world. Surgical repair of these defects in the pediatric population commonly uses either the transcranial or the transpalatal approach, with the choice of approach being individualized based on the clinical features, age, and associated defects present in the patient. Here, we document a case of a 4-month-old child who presented to us with nasal obstruction, who was diagnosed with this rare entity and successfully underwent a transcranial repair for the same. We also provide a systematic review of all existing case reports that have described this rare condition in the pediatric population, as weel as the different surgical approaches used in each case.
Topics: Humans; Infant; Child; Encephalocele; Nasal Obstruction; Magnetic Resonance Imaging; Facial Bones
PubMed: 37055485
DOI: 10.1007/s00381-023-05956-7 -
Neurosurgical Review Mar 2023A series of 5 patients treated with the fourth ventricle to spinal subarachnoid space stent (FVSSS) is presented. Indication for surgery, surgical technique,...
A series of 5 patients treated with the fourth ventricle to spinal subarachnoid space stent (FVSSS) is presented. Indication for surgery, surgical technique, pre-operative and post-operative images, and outcome are analyzed. A systematic review of the pertinent literature has also been performed. This is a retrospective cohort review of a series of 5 consecutive patients with refractory syringomyelia who underwent a fourth ventricle to spinal subarachnoid space shunt surgery. The surgical indication was based on the presence of refractory syringomyelia in patients already treated for Chiari malformation or in patients who developed scarring at the level of the outlets of the fourth ventricle following posterior fossa tumor surgery. The mean age at FVSSS was 11.30 ± 5.88 years. Cerebral MRI revealed crowded posterior fossa, with a membrane at the level of the foramen of Magendie. Spinal MRI showed syringomyelia in all patients. Before surgery, the averages of the craniocaudal and the anteroposterior diameter were 22.66 and 1.01 cm, respectively, whereas the volume was 28.16 cm. The post-operative period was uneventful in 4 out of 5 patients; one child died on the 1st post-operative day due to complications unrelated to surgery. In remaining cases, syrinx marked improvement. The post-operative volume was 1.47 cm with an overall reduction of 97.61%. With regard to literature, 7 articles with a total of 43 patients were analyzed. After FVSSS, syringomyelia reduction was observed in 86.04% of cases. Three patients underwent reoperation due to syrinx recurrence. Four patients presented a catheter displacement, one a wound infection and meningitis and one CSF leak requiring placement of a lumbar drain. FVSSS is highly effective in restoring CSF dynamics, with dramatic improvement of syringomyelia. In all our cases, the volume of the syrinx was reduced by at least 90%, with improvement/resolution of accompanying symptomatology. This procedure should be reserved to patients in which other causes of gradient pressure between the fourth ventricle and subarachnoid space are excluded, for example, tetraventricular hydrocephalus. Surgical procedure is not simple, because it requires meticulous microdissection of cerebello-medullary fissure and upper cervical spine, in already operated patients. To avoid migration of the stent, it should be carefully sutured to the dura mater or thick arachnoid membrane.
Topics: Adolescent; Child; Child, Preschool; Humans; Arnold-Chiari Malformation; Decompression, Surgical; Fourth Ventricle; Magnetic Resonance Imaging; Retrospective Studies; Stents; Subarachnoid Space; Syringomyelia; Treatment Outcome
PubMed: 36905420
DOI: 10.1007/s10143-023-01972-y