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ObjectivesTo determine the baseline trends in the total birth prevalence of neural tube defects (NTDs) in England (2000–2019) to enable the impact of folic acid fortification of non-wholemeal wheat flour to be monitored.DesignPopulation-based, observational study using congenital anomaly (CA) registration data for England curated by the National Congenital Anomaly and Rare Disease Registration Service (NCARDRS).SettingRegions of England with active registration in the time period.ParticipantsBabies that were liveborn or stillborn and pregnancies that resulted in a termination of pregnancy or a late miscarriage (20–23 weeks’ gestation) with an NTD.Main outcome measuresTotal birth prevalence of anencephaly, spina bifida and all NTDs in England. Poisson regression analysis was used to evaluate time trends with regional register as a random effect. The progress of national registration across England was assessed.ResultsThere were 4541 NTD pregnancies out of 3 637 842 births in England; 1982 anencephaly and 2127 spina bifida. NTD prevalence was 12.5 (95% CI 12.1 to 12.9) per 10 000 total births. NTD prevalence per 10 000 total births was significantly higher in 2015–2019 (13.6, 95% CI 12.9 to 14.4) compared with 2010–2014 (12.1, 95% CI 11.7 to 12.5). An increasing trend in NTDs overall was detected (incidence rate ratio (IRR) 1.01, 1.00 to 1.02), although further analysis determined this effect was confined to 2015–2019 (compared against 2000–2004, IRR 1.14, 1.04 to 1.24). The birth prevalence of anencephaly reflected this pattern. The prevalence of spina bifida remained relatively stable over time.ConclusionsBaseline NTD prevalence for England has been established. National and standardised CA registration is in place, facilitating the systematic and consistent monitoring of pre-fortification and post-fortification NTD trends and evaluating the impact of fortification on NTD prevalence.

ObjectiveTo describe the total birth prevalence of neural tube defects (NTDs) in Scotland in 2000–2021.DesignNational, population-based study.SettingScotland, UK.ParticipantsBabies with an NTD and pregnancy outcome of live birth, stillbirth (≥20 weeks’ gestation) or termination of pregnancy (any gestation), as recorded in the Scottish Linked Congenital Condition Dataset.ExposuresYear, maternal age group and maternal area-level deprivation quintile.Main outcome measuresThe main outcome measure was the total birth prevalence of all NTDs and separately anencephaly and spina bifida (per 10 000 total births). The association between exposures and outcomes was investigated using Poisson regression.ResultsIn Scotland in 2000–2021, there were 1178 babies with a recorded NTD (436 anencephaly, 577 spina bifida) and 1 203 491 total births. The total birth prevalence of NTDs was 9.8 (95% CI 9.2, 10.4) per 10 000 total births. The prevalence was lower among babies born to mothers aged 30–39 years (compared with younger or older mothers) and those from less (compared with more) deprived areas. There was no evidence of change in the prevalence of NTDs (prevalence rate ratio (PRR) 1.01 (95% CI 0.997, 1.02), p=0.16) or spina bifida (PRR 0.99 (95% CI 0.98, 1.01), p=0.35) over the study period. The prevalence of anencephaly showed no change in 2000–2012, but increased in 2013–2021 (PRR 1.12 (95% CI 1.06, 1.19), p<0.001).ConclusionsThe observed trends in anencephaly likely reflect increasing detection in early pregnancy. Current strategies are failing to equitably reduce NTDs in Scotland. Monitoring of future trends is needed to assess the impact of mandatory folic acid fortification.

Neural tube defects (NTD) are serious, life-threatening birth defects. Staple food fortification with folic acid (vitamin B ) is a proven, effective intervention to reduce NTD birth prevalence. Mandatory food fortification with folic acid was implemented in South Africa (SA) in 2003. This article provides an overview of NTD birth prevalence in SA, pre- and post-fortification, and evaluates current folic acid fortification regulations. Fortification effectiveness data in SA were reviewed using published studies and national reports on NTD birth prevalence pre- and post-folic acid fortification. Current folic acid fortification regulations in SA were evaluated by experts. Regulations were assessed using national health guidelines, legislation and regulations. NTD birth prevalence data were sourced from the published literature. None. Significant reductions in the birth prevalence of spina bifida and anencephaly and improved maternal folate levels have been achieved following the introduction of folic acid fortification in SA. However, there is poor overall regulatory compliance in some instances and a gap in current regulations that excludes the fortification of cake flour in SA. While the SA NTD birth prevalence has decreased by 30% post-fortification, the regulatory exclusion of cake flour fortification is a significant and growing issue. Proposed 2016 regulatory amendments to address this gap urgently require finalisation and enactment by government to prevent negating benefits achieved to date and to ensure continued improvement. Fortification monitoring requires strengthening to ensure widespread compliance with policies, particularly in underserved areas.

Previous studies have suggested associations between maternal use of SSRIs and congenital heart defects. In this large case–control study, there were no significant associations between maternal SSRI use overall during early pregnancy and most categories or subcategories of birth defects. Associations were found between maternal SSRI use and anencephaly, craniosynostosis, and omphalocele, but they were based on small numbers of exposed infants. There were no significant associations between maternal SSRI use overall during early pregnancy and most categories or subcategories of birth defects. The lifetime risk of major depression among women is 10 to 25%, with a peak prevalence during childbearing years. 1 , 2 Selective serotonin-reuptake inhibitors (SSRIs) are the most frequently used class of antidepressant medications in general 3 and during pregnancy. 4 Data on the safety of SSRIs in human pregnancy are limited, but recent investigations suggest that maternal use of SSRIs during pregnancy may be associated with birth defects in general 5 – 7 or with congenital heart defects in particular. 5 , 7 , 8 We used data from the National Birth Defects Prevention Study (NBDPS) to evaluate the relationship between maternal SSRI use in early pregnancy . . .

Background Neural tube defects (NTDs) are associated with high rates of neonatal mortality and morbidity worldwide. The promotion of folic acid fortification and supplementation in pregnant women by the Food and Drug Administration significantly decreased the incidence of NTDs in the United States. This practice is not widely adopted in Eastern Africa countries. We hypothesized that these countries experience a higher burden of NTDs than countries that promote the use of folic acid. We aimed to estimate the birth prevalence of NTDs in the United Nations (UN) Eastern African region. Methods PubMed (Medline), Embase, and Cochrane Library databases were systematically searched from inception to December 17, 2021. We included randomized controlled trials or observational studies that reported the prevalence estimates of NTDs in Eastern Africa. Random effects model was used to pool the effect estimates. The GRADE (Grading of Recommendations, Assessment, Development and Evaluation) approach was used to assess the certainty of the evidence. Outcome measures were overall and specific (spina bifida, anencephaly, encephalocele) rates of NTDs per 10,000 births, including live and stillborn cases. Results The meta-analysis included 20 studies consisting of 752,936 individuals. The pooled prevalence of all NTDs per 10,000 births in Eastern Africa was 33.30 (95% CI: 21.58 to 51.34). Between-study heterogeneity was high ( I 2  = 97%, p  < 0.0001), The rate was highest in Ethiopia (60 per 10,000). Birth prevalence of spina bifida (20 per 10,000) was higher than anencephaly (9 per 10,000) and encephalocele (2.33 per 10,000). No studies on NTDs were identified in 70% of the UN Eastern Africa region. Birth prevalence increased by 4% per year from 1983 to 2018. The level of evidence as qualified with GRADE was moderate. Conclusion The birth prevalence of NTDs in the United Nations region of Eastern Africa is 5 times as high as observed in Western countries with mandatory folic acid supplementation in place. Therefore, mandatory folic acid supplementation of stable foods may decrease the risk of NTDs in Eastern Africa.

Congenital malformations are defects of the morphogenesis of organs or body during the pregnancy period and are identifiable at pre- or postnatal. They are identified as the major cause of child mortality worldwide. There is a need to understand the prevalence of congenital malformations in Tigray and Ethiopia in general as surveillance data are lacking. Hence, this study was designed to investigate the burden of major congenital malformations in the Tigray Region, Northern Ethiopia. Hospital-based cross-sectional study was conducted to identify neonates with major congenital anomalies in the labor ward admitted at six major public hospitals of Tigray region, Ethiopia between January 2018 and 2019. All newborns/neonates delivered in all study hospitals during the study period were considered as the study population. The prevalence of major congenital anomalies and the distribution of each type of major congenital anomalies within total birth were calculated. Data on maternal, and newborn demographic characteristics was collected. Statistical analysis was done using SPSS and p value < 0.05 was considered significant. A total of 12,225 births and terminations were recorded in the six hospitals during the study period. Of total 12,225 births and terminations examined, 383 births had major congenital malformations and the overall prevalence of congenital malformations was 3.13% of the total births examined. Congenital anomalies (CAs) of the central nervous system specifically neural tube defects (NTDs) were the commonest anomalies in this study, found in 68.7% (263NTDs/383 CAs) of the neonates with CAs. The overall prevalence of NTDs was 2.15% (263/12,225 births) of the total births examined. Maternal factors such as women 20 years of age or younger ( p  < 0.0001) and women older than 35 years of age ( p  < 0.0001), abortion history ( p  < 0.0001), gravidity above 4 (p = 0.005), were more likely associated with an increased risk of babies with congenital anomalies. Fetal factors including gestational ages below 28 weeks ( p  < 0.0001) and above 40 weeks ( p  < 0.0001) were strongly associated with an increased risk of babies with congenital anomalies. However, these associated factors were not resulted from multivariable logistic regression analysis. Thus, the result might be affected by possible confounding factors. This study has shown a high prevalence of major congenital anomalies in the study community. Of the total congenital anomalies observed, most of neonates are affected with neural tube defects, a birth defect with well–established evidence having folic acid deficiency or insufficiency is the predominant cause of spina bifida and anencephaly. This just screams urgency to implement effective/mandatory/ programs to get all women of reproductive age an adequate folic acid to prevent spina bifida and anencephaly.

Anencephaly is a severe anomaly of the brain that results from the failure of the cephalic part of the neural tube to close during the fourth week. It occurs at least in one per thousand births and is the major cause of fetal loss and disabilities in newborns. The objective of this review is to determine the birth prevalence of anencephaly in Africa. We identified relevant studies via a search of databases like PubMed Central, PubMed/Medline, Science Direct, Joanna Briggs Institute, African Journals Online, Embase, Google Scholar, Web of Science, and Cochrane Library. After examining the heterogeneity of studies via the Cochran Q test and I 2 test (and Forest plot for visual inspection), the prevalence of anencephaly was estimated using the random-effect meta-analysis model. Consequently, we carried out subgroup, sensitivity, meta-regression, trim and fill, time-trend, and meta-cumulative analyses. In this systematic review and meta-analysis, the twenty-four studies reported a total of 4,963,266 births. The pooled birth prevalence of anencephaly in Africa was 0.14% (95% CI: 0.12, 0.15%). Higher burden of anencephaly was detected in Ethiopia (0.37%, CI: 0.15, 0.58%), Algeria (0.24%, CI: 0.24, 0.25%), and Eritrea (0.19%, CI: 0.19, 0.19%). The higher pooled prevalence of anencephaly was observed in the studies that included both live births and stillbirths (0.16%) and in studies done after the year 2010 (0.25%) whereas, the lower burden was detected among countries that had a mandatory folic acid fortification (0.05%). High birth prevalence of anencephaly was detected in Africa. Strong prevention and control measures should be the priority because of an increment in the magnitude of anencephaly. Helping in prevention programs, which should be the ultimate contribution of this study to the field.

Background The Tigray region of Ethiopia has a significantly high prevalence of neural tube defects (NTDs), ranging from 1.31 to 2.15% of total births. The prevalence has worsened due to ongoing regional war and conflict since October 2020. This study aims to assess NTD prevalence in these challenging conditions. Methods This institution-based, retrospective cross-sectional study was conducted across 11 public hospitals in the Tigray region. The study reviewed all delivery records from October 2020 to December 2023. Data were collected from hospital records, focusing on cases of neural tube defects (NTDs) and relevant maternal and neonatal characteristics. This retrospective analysis aimed to identify the prevalence of NTDs, as well as factors contributing to their occurrence. The data analysis involved using SPSS version 27 for comprehensive data management and statistical evaluation. Descriptive statistics provided an overview of the data, while binary logistic regression offered insights into the factors associated with neural tube defects. The results were systematically presented in both textual, tabular, graph formats to facilitate understanding and interpretation. Results Out of 54,626 delivery records, 1,612 cases of NTDs were identified (1,434 NTD cases and 178 isolated hydrocephalus cases). The specific birth prevalence of NTDs was 262.5 per 10,000 (95% CI, 249.1-276.5 per 10,000), with NTDs being the predominant cause of stillbirths. Anencephaly (136.6 per 10,000), spina bifida (110.6 per 10,000) and encephalocele (15.4 per 10,000) were the most common defects. Risk factors for NTDs include maternal age (20–29 years), rural residency, first pregnancies, a history of early neonatal death, lack of folic acid and multivitamin use, as well as neonatal factors like stillbirth, male sex, and preterm birth. Conclusion This study reveals the alarmingly high prevalence of neural tube defects (NTDs) in the Tigray region, with a birth prevalence of 262.5 per 10,000 births. Anencephaly, spina bifida, and encephalocele were common, contributing to stillbirths. Risk factors include maternal age (20–29), rural residency, first pregnancies, lack of folic acid and multivitamins, and neonatal factors like male sex and preterm birth. The findings stress the need for public health interventions, including folic acid awareness, better prenatal care, maternal nutrition research, stronger health systems, and a national surveillance system to prevent birth defects.

Background Neural tube defects (NTDs) remain a significant global health concern, with varying prevalence and risk factors across regions. In Tigray, the war and siege have severely disrupted healthcare services, exacerbating pregnancy complications and increasing NTD prevalence. This study investigates the sociodemographic, obstetric, and conflict-related risk factors contributing to NTDs in Tigray during the crisis. Methods A case-control study was conducted between December 2023 and January 2024, including 103 NTD cases and 205 controls. Data were collected using a WHO-adapted birth defect survey and ODK/KOBO software. Statistical analysis was conducted using SPSS version 27, with descriptive statistics used for participant characteristics and logistic regression models applied to identify risk factors for neural tube defects, using a significance threshold of p  < 0.05. Result A total of 308 participants were included (103 NTD cases and 205 controls). Stillbirths accounted for 79.7% of NTD cases, with anencephaly as the most common defect, followed by spina bifida and encephalocele. Among NTD cases, 23.3% were male, 18.4% female, and 58.3% had unidentified sex. Associated congenital anomalies were less common, including hydrocephalus (2.9%), clubfoot, omphalocele, and cleft palate (1-1.9%). Key risk factors for NTDs included younger maternal age, low education, history of abortion or stillbirth, and lack of prenatal care. Conflict-related factors, such as violence, unintended pregnancies, and limited healthcare, worsened NTD prevalence. Food insecurity was found a significant issue, with many women relying on aid or subsistence farming and consuming fewer than two meals per day. Conclusion The study demonstrates that neural tube defects, particularly anencephaly the most frequently observed subtype are strongly associated with increased stillbirth rates. Diagnostic challenges, including high rates of unidentified fetal sex and low detection of associated anomalies, coupled with limited prenatal care and maternal sociodemographic factors, contribute to poor prognoses. The ongoing conflict in Tigray has further worsened maternal health risks through healthcare disruptions, increased violence, unintended pregnancies, and food insecurity, potentially contributing to the higher prevalence of neural tube defects. These findings underscore the urgent need for strengthened maternal healthcare systems, targeted prevention strategies, and improved access to care, particularly in conflict-affected regions.

ObjectivesTo analyse additional structural and genetic anomalies in fetuses with acrania/exencephaly/anencephaly sequence (AEAS).MethodsA retrospective analysis of 139 fetuses with AEAS diagnosed between 2006 and 2020 in a single tertiary referral ultrasound department.ResultsThe median gestational age at diagnosis decreased from 15 weeks in 2006 to 13 weeks in 2020 (− 0.21 per each year; p = 0.009). In 103 fetuses, the defects were limited to the neural tube (NTD) (74.1%), in 36 fetuses (25.9%), there were additional structural non-NTD anomalies. The most common were ventral body wall defects present in 17.8% (23/139), followed by anomalies of the limbs (7.2%; 10/139), face (6.5%; 9/139) and heart (6.5%; 9/139). Genetic anomalies were diagnosed in 7 of the 74 conclusive results (9.5%; 7/74; trisomy 18, n = 5; triploidy, n = 1; duplication of Xq, n = 1). In univariate logistic regression models, male sex, limb anomalies and ventral body wall defects significantly increased the risk of genetic anomalies (OR 12.3; p = 0.024; OR 16.5; p = 0.002 and OR 10.4; p = 0.009, respectively).ConclusionsA significant number of fetuses with AEAS have additional structural non-NTD anomalies, which are mostly consistent with limb body wall complex. Genetic abnormalities are diagnosed in almost 10% of affected fetuses and trisomy 18 is the most common aberration. Factors that significantly increased the odds of genetic anomalies in fetuses with AEAS comprise male sex, limb anomalies and ventral body wall defects.