Vijaya Kancherla

2012 Update on global prevention of folic acid–preventable spina bifida and anencephaly

BACKGROUND Folic acid was proven in 1991 to prevent most cases of spina bifida and anencephaly. In 2008, less than 10% of folic acid-preventable spina bifida and anencephaly (FAPSBA) was prevented through folic acid fortification programs. This study updates the global estimates of the proportion of FAPSBA prevented with various types of folic acid fortification as of 2012. METHODS For each country, we estimated the annual birth prevalence of FAPSBA and the daily amount of folic acid consumed from mandatory folic acid fortification programs. Assuming in Model I (our original Bell and Oakley model) that it required 400 μg, and in Model II (a new model), 200 μg of folic acid daily for total prevention of FAPSBA, we estimated the percentage of FAPSBA being prevented in each country by fortification. RESULTS Using the original model, we estimate that 15% of FAPSBA is being prevented in 2012, compared with 2006 (6.8%) and 2008 (9.1%). We estimate in our new model that 25% of FAPSBA is being prevented. CONCLUSION We estimate an increasing prevention of FAPSBA in the world through folic acid fortification, yet the pace is slow. Our new model estimates that only 25% prevention and reminds us that there remains a lot of work to do in countries that do not implement mandatory fortification, which is key to achieving global and total prevention. If we are to prevent all FAPSBA, there is an urgent need to build the global political will to find sufficient resources to aid in this effort.

A 2015 global update on folic acid-preventable spina bifida and anencephaly.

BACKGROUND Spina bifida and anencephaly are two major neural tube defects. They contribute substantially to perinatal, neonatal, infant, and under-five mortality and life-long disability. To monitor the progress toward the total prevention of folic acid-preventable spina bifida and anencephaly (FAP SBA), we examined their global status in 2015. METHODS Based on existing data, we modeled the proportion of FAP SBA that are prevented in the year 2015 through mandatory folic acid fortification globally. We included only those countries with mandatory fortification that added at least 1.0 ppm folic acid as a fortificant to wheat and maize flour, and had complete information on coverage. Our model assumed mandatory folic acid fortification at 200 μg/day is fully protective against FAP SBA, and reduces the rate of spina bifida and anencephaly to a minimum of 0.5 per 1000 births. RESULTS Our estimates show that, in 2015, 13.2% (35,500 of approximately 268,700 global cases) of FAP SBA were prevented in 58 countries through mandatory folic acid fortification of wheat and maize flour. Most countries in Europe, Africa, and Asia were not implementing mandatory fortification with folic acid. CONCLUSION Knowledge that folic acid prevents spina bifida and anencephaly has existed for 25 years, yet only a small fraction of FAP SBA is being prevented worldwide. Several countries still have 5- to 20-fold epidemics of FAP SBA. Implementation of mandatory fortification with folic acid offers governments a proven and rapid way to prevent FAP SBA-associated disability and mortality, and to help achieve health-related Sustainable Development Goals. Birth Defects Research (Part A) 106:520-529, 2016.

Urgent global opportunities to prevent birth defects

Birth defects are an urgent global health priority. They affect millions of births worldwide. But their prevalence and impact are largely under-ascertained, particularly in middle- and low-income countries. Fortunately, a large proportion of birth defects can be prevented. This review examines the global prevalence and primary prevention methods for major preventable birth defects: congenital rubella syndrome, folic acid-preventable spina bifida and anencephaly, fetal alcohol syndrome, Down syndrome, rhesus hemolytic disease of the fetus and the newborn; and those associated with maternal diabetes, and maternal exposure to valproic acid or iodine deficiency during pregnancy. Challenges to prevention efforts are reviewed. The aim of this review is to bring to the forefront the urgency of birth defects prevention, surveillance, and prenatal screening and counseling; and to help public health practitioners develop population-based birth defects surveillance and prevention programs, and policy-makers to develop and implement science-based public health policies.

Preventable spina bifida and anencephaly in Europe

BACKGROUND Promotion of voluntary folic acid supplement use among women of reproductive age has been proven to be ineffective in lowering the risk of neural tube defects in Europe. METHODS Using surveillance data from all births covered by the full member countries of the European Surveillance of Congenital Anomalies (EUROCAT), we estimated the total prevalence of spina bifida and anencephaly per 10,000 births between 2000 and 2010. We also estimated additional lifetime direct medical costs among individuals with spina bifida, compared with those without, in Germany for the year 2009. RESULTS During the study period, there were 7478 documented cases of spina bifida and anencephaly among the 9,161,189 births, with an estimated average combined prevalence of 8.16 per 10,000 births (95% confidence interval, 7.98 - 8.35). For the 241 spina bifida-affected live births in 2009 in Germany, the estimated additional lifetime direct medical costs compared with non-spina bifida affected births were €65.5 million. Assuming a 50% reduction in the prevalence if folic acid has been provided to all women before pregnancy, 293 spina bifida cases could have been prevented in Germany in 2009. The estimated lifetime direct medical cost saving for the live births in 2009 was €32.9 million assuming a 50% reduction, or €26.1 million assuming a 40% risk reduction. CONCLUSION Europe has an epidemic of spina bifida and anencephaly compared with countries with mandatory folic acid fortification policy. Primary prevention through mandatory folic acid fortification would considerably reduce the number of affected pregnancies, and associated additional costs.

Dental Care among Young Adults with Intellectual Disability.

Dental care among young adults with intellectual disability (ID) is poorly documented and largely unmet. By using population-based data from the Metropolitan Atlanta Developmental Disabilities Follow-Up Study, we assessed factors associated with at least one or two dental visits per year among young adults with and without ID. Significantly fewer young adults with ID (45%) visited a dentist at least once per year, compared with those without ID (58%). ID severity and the presence of co-occurring developmental disabilities predicted dental care use. Sociodemographics, daily functioning, societal participation, dental services, and dental health factors were examined as predictors of dental care frequency. Our findings can help focus efforts toward improving the frequency of dental care visits among young adults with ID.

Long-term Metformin Therapy and Monitoring for Vitamin B12 Deficiency Among Older Veterans

To examine the association between long‐term metformin therapy and serum vitamin B12 monitoring.

Population‐based study to determine mortality in spina bifida: New York State congenital malformations registry, 1983 to 2006

BACKGROUND The lifetime risk of death among individuals with spina bifida is 10-times higher compared with the general population. A population-based analysis on cause-specific mortality among individuals spina bifida is lacking. METHODS Using statewide, population-based New York Congenital Malformations Registry, we examined all births between years 1983 and 2006, and identified 1988 births with spina bifida and 10,951 births with congenital hypertrophic pyloric stenosis (CHPS). We linked registry records to birth and death files from vital records, and determined age- and cause-specific mortality for isolated and multiple spina bifida, and compared the findings with the less fatal CHPS. RESULTS Mortality in spina bifida is significantly high compared with CHPS (16.9% vs. 0.96%, respectively). The probability of survival in spina bifida was lower compared with CHPS. A majority of the deaths in spina bifida occurred in infants within the first year of birth; however, an increased risk of death persisted in young adulthood for both isolated and multiple cases of spina bifida. The common causes of death in children with spina bifida were hydrocephalus, infections, cardiac anomalies, pneumonia, and pulmonary embolism; while infections, heart or kidney failure, injuries and neoplasms contributed to deaths in adults. CONCLUSION We conclude that mortality in spina bifida is a large concern, and individuals living with the defect require improved clinical care for lethal medical complications. Primary prevention of spina bifida through mandatory folic acid fortification remains as the best strategy to reduce both disability and mortality associated with this defect across the world.

Maternal reports of satisfaction with care and outcomes for children with craniosynostosis.

Craniosynostosis is a congenital deformity caused by premature fusion of cranial suture(s). Surgical outcomes of craniosynostosis have been well documented; however, limited published data are available regarding access to care and social and psychological health outcomes for children with craniosynostosis. The authors conducted a population-based, multistate study of maternal perceptions of care and outcomes for children with craniosynostosis born from January 1998 through December 2003. Mothers of 147 children were contacted and asked to complete a structured telephone interview; 82 mothers (55.8%) participated. Overall, the mean ages of children and their mothers at the time of interview were 4.4 and 34.8 years, respectively. Mothers interviewed tended to be white and, at a minimum, high school graduates. Most mothers reported being satisfied with the craniosynostosis-related information and support provided by medical care providers, and access to primary and specialty care was most often rated as satisfactory. Mothers tended to report the physical health of their child to be good; however, delays in cognitive and emotional development, hearing loss, and speech problems were identified. In addition, statistically significant differences among mothers in each state were noted for reports of the quality of team care, primary care, learning interventions, and perceived need for additional surgeries. These results suggest some limitations in craniosynostosis-related care and provide guidance to medical and surgical care providers in making need-based improvements in craniosynostosis surgery and care. Future studies are recommended to replicate this evaluation in additional populations.

Estimates of global and regional prevalence of neural tube defects for 2015: a systematic analysis.

Neural tube defects (NTDs) are associated with substantial mortality, morbidity, disability, and psychological and economic costs. Many are preventable with folic acid, and access to appropriate services for those affected can improve survival and quality of life. We used a compartmental model to estimate global and regional birth prevalence of NTDs (live births, stillbirths, and elective terminations of pregnancy) and subsequent under‐5 mortality. Data were identified through web‐based reviews of birth defect registry databases and systematic literature reviews. Meta‐analyses were undertaken where appropriate. For 2015, our model estimated 260,100 (uncertainty interval (UI): 213,800–322,000) NTD‐affected birth outcomes worldwide (prevalence 18.6 (15.3–23.0)/10,000 live births). Approximately 50% of cases were elective terminations of pregnancy for fetal anomalies (UI: 59,300 (47,900–74,500)) or stillbirths (57,800 (UI: 35,000–88,600)). Of NTD‐affected live births, 117,900 (∼75%) (UI: 105,500–186,600) resulted in under‐5 deaths. Our systematic review showed a paucity of high‐quality data in the regions of the world with the highest burden. Despite knowledge about prevention, NTDs remain highly prevalent worldwide. Lack of surveillance and incomplete ascertainment of affected pregnancies make NTDs invisible to policy makers. Improved surveillance of all adverse outcomes is needed to improve the robustness of total NTD prevalence estimation, evaluate effectiveness of prevention through folic acid fortification, and improve outcomes through care and rehabilitation.

Placenta previa and risk of major congenital malformations among singleton births in Finland.

BACKGROUND Placenta previa has been associated with adverse birth outcomes, but its association with congenital malformations is inconclusive. We examined the association between placenta previa and major congenital malformations among singleton births in Finland. METHODS We performed a retrospective population register-based study on all singletons born at or after 22+0 weeks of gestation in Finland during 2000 to 2010. We linked three national health registers: the Finnish Medical Birth Register, the Hospital Discharge Register, and the Register of Congenital Malformations, and examined several demographic and clinical characteristics among women with and without placenta previa, in association with major congenital malformations. We estimated adjusted odds ratios and 95% confidence intervals using multivariable logistic regression models. RESULTS The prevalence of placenta previa was estimated as 2.65 per 1000 singleton births in Finland (95% confidence interval, 2.53-2.79). Overall, 6.2% of women with placenta previa delivered a singleton infant with a major congenital malformation, compared with 3.8% of unaffected women (p ≤ 0.001). Placenta previa was positively associated with almost 1.6-fold increased risk of major congenital malformations in the offspring, after controlling for maternal age, parity, fetal sex, smoking, socio-economic status, chorionic villus biopsy, In vitro fertilization, pre-existing diabetes, depression, preeclampsia, and prior caesarean section (adjusted odds ratio = 1.55; 95% confidence interval, 1.27-1.90). CONCLUSION Using a large population-based study, we found that placenta previa was weakly, but significantly associated with an increased risk of major congenital malformations in singleton births. Future studies should examine the association between placenta previa and individual types of congenital malformations, specifically in high-risk pregnancies.