Epidemiology Of Neural Tube Defects Research Articles

"Prevalence and secular trend of neural tube defects in fetal deaths in Argentina, 1994-2019".

Fetal deaths are a major source of information on the epidemiology of neural tube defects (NTDs; anencephaly and myelomeningocele). We analyzed NTDs prevalence and secular trend using fetal death records between 1994 and 2019 in Argentina. Data were obtained from the Department of Statistics and Information of the Ministry of Health (DEIS). Using the number of fetal deaths due to anencephaly and myelomeningocele, we estimated the proportion of all fetal deaths due to anencephaly, myelomeningocele, and NTDs (anencephaly + myelomeningocele) during pre- and post-fortification period in Argentina. We also estimated the ratio of fetal deaths due to anencephaly, myelomeningocele, and NTDs (anencephaly + myelomeningocele) to 10,000 live births. Secular trend in the outcomes was analyzed using a Poisson model and Joinpoint regression analysis. In the entire period analyzed, the NTD proportion on fetal deaths was 1.32. In 1994, NTDs accounted for 34.7% of congenital malformations fetal deaths (CM) and 1.7% of all fetal deaths, whereas in 2019, these percentages were 9.4% and 0.5%, respectively. NTDs present a negative secular trend (p < .05). The risk of fetal death due to anencephaly and myelomeningocele decreases between 2005 and 2019 by 67% and 51% respectively (p < .05) in comparison to the period between 1994 and 2004 before the effective fortification of wheat flour used in the food industry destined for the domestic market. We found a significant decrease in the risk of all fetal deaths due to NTDs, particularly anencephaly, in Argentina over the study period, with most reduction observed during the mandatory flour fortification era (introduced in Argentina in 2002). The inclusion of fetal deaths in NTD surveillance, coupled or uncoupled with other pregnancy outcomes, is essential for monitoring preventive supplementation measures.

Epidemiology and determinant factors of neural tube defect: Narrative review.

Background: The epidemiology of neural tube defect (NTD) is face ignorance from the global community. However, the problem is complex and it is a cause for child mortality and morbidity. We provide the latest insights with respect to determinant factors of NTD.Methods: Google Scholar and PubMed were systematically searched to identify potential research articles concerning the epidemiology and its determinant factors of NTD.Results: The epidemiology of Neural tube defects increased in some countries. The epidemiology and determinant factors were varies across countries,geographical regions and socioeconomic status of the populations. In general, the determinant factors of NTD were summarized as behavioral, nutrition-related, environmental, medical illness, and health service-related factors.Conclusion: Birth defect is fatal which affects the new generation; specifically, NTD is the problem of middle- and low-income countries. It is a direct cause for neonatal and perinatal mortality rate globally. Even if little factors identified, yet conducting experimental and clinical trial researches are a better approach to slow down the progress.

Genetic epidemiology of neural tube defects.

It has been estimated that 60-70% of neural tube defects (NTDs) have a genetic component, but few causative genes have been identified. The lack of information on genes associated with non-syndromic NTDs in humans is especially notable as the "genomic revolution" has led to new tools (e.g., genome-wide genotyping arrays, next-generation sequencing) that are helping to elucidate the full spectrum of genetic variation (from common to rare) contributing to complex traits, including structural birth defects. However, the application of modern genomic approaches to the study of NTDs has lagged behind that of some other common structural birth defects. This may be due to the difficulty of assembling large study cohorts for anencephaly or spina bifida. The purpose of this review is to outline the evolution of genetic studies of NTDs, from studies of familial aggregation to candidate gene and genome-wide association studies, through whole-exome and whole-genome sequencing. Strategies for addressing gaps in NTD genetic research are also explored.

A single center study of epidemiology of neural tube defects.

A single center study of epidemiology of neural tube defects.

A single center study of epidemiology of neural tube defects.

A single center study of epidemiology of neural tube defects.

Neural tube defects in 21st century: is Northern Ireland changing?

Background Neural tube defects (NTD), which include spina bifida, anencephaly, and encephalocoele, are an important group of severe birth defects whose prevalence has fallen significantly in past few decades in many countries. Northern Ireland (NI) is known to have the highest prevalence of neural tube defects (NTD) in Europe. The prevalence rate of 60 and 40 per 10,000 births was reported in 1970's and 1980's, respectively. However no NI data has been published since then to assess the trend of decline in NTD prevalence as noted in other previously high prevalent regions of UK and Ireland. The aims of the study were (1) To describe the current epidemiology of NTD in Northern Ireland (2) To assess the impact of prenatal diagnosis on the birth prevalence of spina bifida and anencephaly (3) To compare the current prevalence, antenatal diagnosis and termination trend with previously published reports from the province (3) To compare the current NI data with rest of UK and Europe for the same period.

Weekly Administration of Folic Acid and Epidemiology of Neural Tube Defects

In 1999, a folic acid campaign for prevention of neural tube defects was started in Nuevo León, México, with the recommendation of taking a 5000 -mcg tablet of folic acid per week. The purpose of this study was to compare the epidemiology of neural tube defects after four years of the campaign. Cases of anencephaly, spina bifida, and encephalocele (ICD Q00, Q01, Q05, 10th Ed.) from public and private hospitals were registered by immediate notification, death certificates, and fetal death registries. Comparisons of neural tube defects rates, phenotype distribution of cases, and sex ratios, registered before and after the folic acid campaign, were done using the Student's t Test and Chi square test. There was a 50% reduction in the incidence of anencephaly and spina bifida cases from 93 in 1999 (1.04x1000) to 46 in the year 2003 (0.56x1000) (p<0.001). Spina bifida cases declined up to 70% in 2002 and anencephaly cases up to 50% in 2003. In 1999, overall, the ratio (females: males) was 0.66 with female excess; the sex ratio was similar for anencephaly and spina bifida cases. In the year 2000, female cases showed a significant reduction for both spina bifida and anencephaly (75% and 56% respectively); the sex ratio was 0.57 with a greater male excess for both phenotypes. Weekly administration of 5000 mcg of folic acid reduces the incidence of neural tube defects 50%, primarily spina bifida, with a higher reduction of female cases.

Li JK: Neural Tube Defects – From Origin to Treatment Edited by: Diego F Wyszynski. Oxford University Press, New York; 2006.

Li JK: Neural Tube Defects – From Origin to Treatment Edited by: Diego F Wyszynski. Oxford University Press, New York; 2006.

Extremely high prevalence of neural tube defects in a 4‐county area in Shanxi Province, China

In the past, northern China's Shanxi Province has reported the highest incidence of neural tube defects (NTDs) in the world. However, little is known about the epidemiology of NTDs in this area in recent years. Data were collected from a population-based birth defects surveillance system in 4 counties that captures information on all live births, stillbirths of at least 20 weeks' gestation, and pregnancy terminations at any gestational age resulting from prenatal diagnosis of a birth defect. We also surveyed mothers of NTD case patients to determine their use of folic acid before and during early pregnancy. During 2003, 160 NTD cases were identified among 11,534 births (NTD birth prevalence = 138.7/10,000 births). The rates of anencephaly, spina bifida and encephalocele were 65.9, 58.1, and 14.7 per 10,000, respectively, and a female predominance was observed among anencephaly cases (male-to-female relative risk [RR], 0.49; 95% confidence interval [CI], 0.30-0.79), but not among spina bifida (RR, 0.90; 95% CI, 0.55-1.45) and encephalocele (RR, 1.03; 95% CI, 0.40-2.69) cases. The percentages of pregnancy termination following prenatal diagnosis of anencephaly, spina bifida, and encephalocele were 50%, 41.8%, and 35.3%, respectively. NTD birth prevalence tended to be higher among mothers aged <20 or > or =30 years (P = .06) and was markedly associated with lower levels of maternal education (P < .001). Among 143 NTD mothers, only 6 (4.2%) used folic acid supplements during the periconceptional period. The NTD birth prevalence rate in the study area is among the highest worldwide. Folic acid deficiency may be one important risk factor.

Epidemiology of neural tube defects

The epidemiological investigation of the common open neural tube defects (NTDs), anencephaly, and spina bifida, has a long history. The most significant finding from these past studies of NTDs was the identification of the protective effect of maternal, periconceptional supplementation with folic acid. Fortuitously, the association between folic acid and NTDs became widely accepted in the early 1990s, at a time when genetic association studies of complex traits were becoming increasingly feasible. The confluence of these events has had a major impact on the direction of epidemiological, NTD research. Association studies to evaluate genes that may influence the risk of NTDs through their role in folate-related processes, or through other metabolic or developmental pathways are now commonplace. Moreover, the study of genetic as well as non-genetic, factors that may influence NTD risk through effects on the nutrient status of the mother or embryo has emerged as a major research focus. Research efforts over the past decade indicate that gene-gene, gene-environment, and higher-order interactions, as well as maternal genetic effects influence NTD risk, highlighting the complexity of the factors that underlie these conditions. The challenge for the future is to design studies that address these complexities, and are adequately powered to detect the factors or combination of factors that influence the development of NTDs.

Descriptive epidemiology of lipomyelomeningocele, Hawaii, 1986–2001

The epidemiology of neural tube defects (NTDs) may depend on the type of the defect and its location. There is little epidemiologic information on lipomyelomeningocele, a type of NTD. The objective of this investigation was to describe the epidemiology of lipomyelomeningocele. Cases were obtained from a Hawaii birth defect registry and consisted of all infants delivered during 1986-2001 with lipomyelomeningocele. Lipomyelomeningocele rates per 10,000 births were calculated for various factors. A total of 17 cases of lipomyelomeningocele were identified, for a total rate of 0.57. When the lipomyelomeningocele rate was examined with respect to the time period of folic acid fortification of cereal grains in the United States, the rate was 0.57 during 1986-1996 (prefortification), 0.57 during 1997-1998 (voluntary fortification), and 0.58 during 1999-2001 (mandatory fortification). A total of 11 (64.7%) of the cases were female. Lipomyelomeningocele rates were higher among infants born to mothers in younger and older age groups. The rate was highest among Pacific Islanders, followed by Filipinos and Far East Asians, and lowest among whites. Rates were greater with lower birth weight and gestational age and among multiple births. Lipomyelomeningocele rates were not found to be affected by folic acid fortification. The majority of cases were female. Other demographic and clinical factors appear to be associated with lipomyelomeningocele risk. None of the differences in rates between the various subgroups were statistically significant, and due to the small number of cases, the 95% confidence interval (CI) ranges were wide. However, the findings suggest possible patterns of occurrence. Additional studies involving larger numbers of cases are recommended.

Epidemiology of neural tube defects and folic acid

This review article combines four disparate observations about Neural Tube Defects (NTDs). They are the worldwide decline in the birth incidence that began prior to prenatal diagnosis; family recurrence risks; the effect of prenatal diagnosis and termination of affected pregnancies; and the effect of folic acid.

Epidemiology of neural tube defects.

Neural tube defects (NTDs)-malformations secondary to abnormal neural tube closure between the third and fourth weeks of gestational age-have a complex and imperfectly understood etiology in which both genetic and environmental factors appear to be involved. A number of specific chromosomal or single-gene disorders, presumably not affected by environmental influences, are associated with the development of NTDs, but such syndromal cases account for a small proportion of NTDs in live-born infants. Analysis of recurrence patterns within families and of twin-concordance data provides evidence of a genetic influence in nonsyndromal cases, but factors such as socioeconomic status and geographic area (independent of race or ethnicity) are also associated with variations in the incidence of NTDs. The prevalence at birth of both anencephaly and spina bifida has decreased, but the advent of antenatal diagnosis and elective termination of affected pregnancies has undermined the reliability of birth prevalence rate as an estimate of incidence. Some occupational and other exposures, including maternal use of antiepileptic drugs (AEDs), are associated with increased risk for NTDs. Among women who have had an NTD-affected pregnancy, recurrence risk is markedly higher than the risk for a first NTD-affected pregnancy in the general population. There is strong evidence, overall, for a protective effect of adequate folate consumption. In some high-risk groups, however, such as women taking AEDs, folate supplementation has not been proven to reduce NTD risk.

The Epidemiology of Neural Tube Defects in Newfoundland and Labrador

Objectives: To describe the epidemiology of neural tube defects (NTDs) in Newfoundland and Labrador, including geographic, seasonal and secular variation, and associated anomalies.Methods: All cases of NTDs between 1992 and 1998 identified in the Newfoundland and Labrador Neural Tube Defect Database were included. Information evaluated from each case included the date of the last menstrual period, mother’s place of residence, sex of the fetus or child, and occurrence and type of additional anomalies. Rates by geographic region were based on total birth rates for the community health regions of the province. Rates by season of conception were based on the last menstrual period and the total birth rates nine months later. Statistical analysis was with parametric and nonparametric tests, where appropriate.Results: Information in the database allowed identification of 165 NTDs in newborns, for a rate of 3.92 NTDs per 1000 births. St. John’s had a significantly higher rate of NTDs (4.86/1000) compared to the rest of the province (3.53/1000; p = 0.044) or to the adjoining region of Eastern Newfoundland (3.03/1000; p = 0.029). Grenfell (Northern Newfoundland) had a significantly higher rate (5.79/1000) compared with the adjoining region of Labrador (1.90/1000; p = 0.041). Twenty percent of fetuses had at least one extra central nervous system anomaly, including omphalocele, diaphragmatic hernia, renal, cardiac, anal atresia, cleft lip/palate, and musculoskeletal, with five having multiple extra central nervous system anomalies. A higher rate of NTDs was found in spring (5.02/1000) and summer (4.33/1000) combined than in autumn (2.96/1000) and winter (3.16/1000; p = 0.008). Secular trends found a reduction in the incidence of NTDs in 1997 and 1998 compared to earlier years (p < 0.0001).Conclusion: The incidence of NTDs in Newfoundland varies by season and by geography. The geographic variation may be partly explained by the ethnic backgrounds of the different regions of the province, as well as by the varying availability of foods rich in folate. The reduction in the incidence of NTDs in the last two years of the study may represent normal fluctuations in incidence, or perhaps more significantly a reduction due to increased awareness and use of periconceptual folic acid, as well as the introduction of fortification of flour with folate.

ECLAMC: Estudio de 30 años de vigilancia epidemiológica de defectos de tubo neural en Chile y en Latinoamérica

There is an urgent need to assess the impact, on the incidence of neural tube defects, of the recently implanted flour fortification with folic acid in Chile. The Collaborative Study of Congenital Malformations in Latin America (ECLAMC) has carried out an uninterrupted register of congenital malformations in the last thirty years. To assess the epidemiology of neural tube defects in Chile and determine the most adequate base period to evaluate the effects of Folic acid fortification. Analysis of ECLAMC database that has registered all births over 500 g from 1967. From 1967 to 1999, there were 434.624 births in 18 hospitals in Chile and 3.586.569 births in 155 hospitals in the rest of Latin America. The rate of neural tube defects in Chile was 17.03 per 10.000, significantly higher than the rest of ECLAMC (14.88 per 10.000). The prevalence of neural tube defects has a statistically significant secular tendency to increase in the study period and is higher among stillbirths, newborns with a birth weight of less than 1500 g, women and offspring of mothers aged less than 19 years old. The period 1982-1999 is considered the best period for reference comparisons of the effects folic acid supplementation.

ERECTILE DYSFUNCTION IN PATIENTS WITH SPINA BIFIDA IS A TREATABLE CONDITION

No AccessJournal of UrologyNeurogenic Bladder1 Sep 2000ERECTILE DYSFUNCTION IN PATIENTS WITH SPINA BIFIDA IS A TREATABLE CONDITION JEFFREY S. PALMER, WILLIAM E. KAPLAN, and CASIMIR F. FIRLIT JEFFREY S. PALMERJEFFREY S. PALMER More articles by this author , WILLIAM E. KAPLANWILLIAM E. KAPLAN More articles by this author , and CASIMIR F. FIRLITCASIMIR F. FIRLIT More articles by this author View All Author Informationhttps://doi.org/10.1016/S0022-5347(05)67225-4AboutFull TextPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookLinked InTwitterEmail Abstract Purpose: Now that individuals with spina bifida live well into adulthood erectile dysfunction has become a recognized associated medical disorder. To our knowledge no study has dealt specifically with treatment of erectile dysfunction in men with spina bifida. Therefore, we conducted a prospective, blinded, randomized, placebo controlled, dose escalation, crossover study to determine the ability to treat erectile dysfunction in men with spina bifida with sildenafil citrate. Materials and Methods: Erectile dysfunction was diagnosed in 15 men 19 to 35 years old with spina bifida who were assigned to take 4 sets of tablets, 5 tablets per set, in a random order. All patients took 25 and 50 mg. sildenafil and 2 identical looking sets of corresponding placebos 1 hour before planned sexual activity. Efficacy was assessed by the effect of treatment compared to baseline, that is before treatment, on rating of erections (scored from 0 to 10), duration of erections, frequency of erections based on response to question 1 (scored from 0 to 5) of the International Index of Erectile Function and confidence to obtain an erection based on response to question 15 (scored from 1 to 5) of the International Index of Erectile Function. Results: Improved erectile function was reported while on sildenafil by 12 (80%) men compared to baseline and placebos. There was a significant dose dependent improvement of erectile function with both 25 and 50 mg. sildenafil compared to baseline (p <0.05), as mean erectile score increased by 50% and 88%, mean duration of erections increased by 192% and 266%, mean frequency of erections increased by 61% and 96%, and mean level of confidence increased by 33% and 63%, respectively. Furthermore, 50 mg. sildenafil provided greater improvement in all 4 parameters compared to 25 mg. The placebo results were not significantly different compared to baseline for any of the parameters. Conclusions: Erectile dysfunction in patients with spina bifida is a medically treatable condition. Sildenafil is effective in this patient population and improves level of sexual confidence. References 1 : The changing epidemiology of neural tube defects. United States, 1968–1989. Am J Dis Child1992; 146: 857. Google Scholar 2 : Sexuality and reproductive issues in children with myelomeningocele. Eur J Pediatr Surg1998; 8: 29. Google Scholar 3 : Oral sildenafil in the treatment of erectile dysfunction. Sildenafil study group. N Engl J Med1998; 338: 1397. Crossref, Medline, Google Scholar 4 : Impotence. NIH Consensus Development Panel on Impotence. JAMA1993; 270: 83. Crossref, Medline, Google Scholar 5 : The International Index of Erectile Function (IIEF): a multidimensional scale for assessment of erectile dysfunction. Urology1997; 49: 822. Crossref, Medline, Google Scholar 6 : Erectile dysfunction in spina bifida is treatable. Lancet1999; 354: 125. Crossref, Medline, Google Scholar 7 : Evaluation and nonsurgical management of erectile dysfunction and priapism. In: . Philadelphia: W. B. Saunders Co.1998: 1181. Google Scholar From the Division of Urology, Children’s Memorial Hospital, Northwestern University Medical School, Chicago, Illinois© 2000 by American Urological Association, Inc.FiguresReferencesRelatedDetailsCited bySnow-Lisy D, Yerkes E and Cheng E (2015) Update on Urological Management of Spina Bifida from Prenatal Diagnosis to AdulthoodJournal of Urology, VOL. 194, NO. 2, (288-296), Online publication date: 1-Aug-2015.Gatti C, Del Rossi C, Ferrari A, Casolari E, Casadio G and Scire G (2009) Predictors of Successful Sexual Partnering of Adults With Spina BifidaJournal of Urology, VOL. 182, NO. 4S, (1911-1916), Online publication date: 1-Oct-2009.WOODHOUSE C (2018) PROSPECTS FOR FERTILITY IN PATIENTS BORN WITH GENITOURINARY ANOMALIESJournal of Urology, VOL. 165, NO. 6 Part 2, (2354-2360), Online publication date: 1-Jun-2001. Volume 164Issue 3 Part 2September 2000Page: 958-961 Advertisement Copyright & Permissions© 2000 by American Urological Association, Inc.Keywordsspinal dysraphismmeningomyeloceleimpotenceMetricsAuthor Information JEFFREY S. PALMER More articles by this author WILLIAM E. KAPLAN More articles by this author CASIMIR F. FIRLIT More articles by this author Expand All Advertisement PDF downloadLoading ...

East Ireland 1980-1994: epidemiology of neural tube defects.

STUDY OBJECTIVE: The objective of the study was to describe the epidemiology of neural tube defects (NTD) in the eastern region of Ireland using the EUROCAT register of congenital malformations....

Similarities in the epidemiology of neural tube defects and coronary heart disease: is homocysteine the missing link?

It is hypothesised that a single aetiological pathway could explain both the strong ecological association between the birth prevalence of neural tube defects (NTD) and coronary heart disease (CHD) mortality...

Epidemiology of Common Neurosurgical Diseases in the Neonate

This article reviews the epidemiology and risk factors of posthemorrhagic hydrocephalus and neural tube defects (NTDs). Posthemorrhagic hydrocephalus is discussed in terms of risk factors for intraventricular hemorrhage. Four categories of risk factors are presented: maturational factors, antepartum factors, peripartum factors, and factors conferred by postnatal conditions. The complex epidemiology of neural tube defects is discussed in terms of person, place, and time. Interventional strategies, including antenatal screening and nutritional supplementation for NTD prevention, are reviewed.

Epidemiology of neural tube defects

Epidemiologic studies have established clear variations in the occurrence of neural tube defects (NTDs) associated with demographic and other factors. Methods of counting NTD-affected pregnancies and other birth defects rely on multiple sources of information such as hospital records and birth certificates. Widespread prenatal diagnosis of NTDs presents special challenges for birth defects monitoring programs. Even before prenatal diagnosis was possible, epidemiologists noted geographic variation in NTD rates; distinctive recurrence patterns within families; variations in NTD rates by race/ethnicity, socioeconomic strata, and sex of the infant or fetus; and changing rates over time. We review highlights of studies of these factors and some conclusions that can be drawn from NTD epidemiologic data. These conclusions include the importance of maternal diet, a finding that has led to preventive interventions, and the suggestion of multiple causes of NTDs, indicating that no single prevention program may prevent the occurrence of all NTDs. We also discuss the relevance of epidemiologic data to NTD screening and counseling policies and the importance of prenatal diagnosis data. Future epidemiologic studies will need to incorporate prenatal records, particularly to study trends. Other emerging themes in epidemiologic research include collaboration between different birth defects monitoring programs, new information from unique geographic areas, new techniques to study gene-environment interactions, and a multidisciplinary emphasis on measuring the effectiveness of prevention programs. MRDD Research Reviews 1998;4:241–246. Published 1998 Wiley-Liss, Inc.