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PubMed2000

A UK general practice database study of prevalence and mortality of people with neural tube defects.

OBJECTIVE: To investigate the prevalence of neural tube defects (NTDs) in the UK and to compare the mortality rate with that of the general population. METHODS: A cross-sectional study. The General Practice Research Database (GPRD) contains the prescribing and diagnostic records since 1990 of over 4 million people from throughout the UK. All patients aged 10-69 and registered on the database in the years 1994-1997 were included in the study. Patients with a diagnosis of NTD were identified from the database and prevalence and standardized mortality ratios in each year were calculated. RESULTS: The size of the GPRD reduced during the study period - there were 2116452 patients aged 10-69 years on the database in 1994, of whom 1751 had a prior record of NTD. In 1997 there were 998368 patients, of whom 842 had an NTD. The age standardized prevalence between 1994 and 1997 for NTDs ranged between 7.8 and 8.4 per 10000 for males and 9.0 and 9.4 per 10000 for females aged 10-69 years. There were 27 deaths in patients with a record of NTD over the four-year study period. The standardized mortality ratio for the years 1994 to 1997 for NTDs ranged between 1.9 and 2.9. CONCLUSIONS: These data give an estimate of the prevalence of NTDs in the general population. They also show that those who have survived to age 10 years still have double the mortality of the general population.

Adolescent↗
PubMedDate not supplied

Folate levels and N(5),N(10)-methylenetetrahydrofolate reductase genotype (MTHFR) in mothers of offspring with neural tube defects: a case-control study.

BACKGROUND: Neural tube defects (NTDs) have been associated with biochemical factors involved in the conversion of homocysteine to methionine as folate deficiency and the mutation 677T in the N(5),N(10)-methylenetetrahydrofolate reductase gene (MTHFR). METHODS: A case-control study was performed to detect this mutation in 38 unrelated women with NTD deceased products and 31 mothers without antecedents of NTD offspring. All products were born in Nuevo León (northeastern Mexico) during 1997. Erythrocyte and plasmatic folate levels and the genotype of the 677 polymorphism at the MTHFR locus were analyzed in both groups. RESULTS: Although no significant differences were found in mean blood folate levels, the percentage of women in the case group with erythrocyte folate levels <160 ng/mL was significantly higher than in the control group (75 vs. 51.2%, p <0.05). The proportion of women with plasma folate levels <3.5 ng/mL was higher in the case group (16.2 vs. 0%, p <0.01). Genotype analysis demonstrated a significantly higher proportion of 677T homozygous mothers with NTD products (39.6 vs. 9.1%, p <0.05). Allele frequencies for the 677T mutation were 0.55 and 0.36 for cases and controls, respectively. The odds ratio (OR) for having a NTD product was 6.1 (95%, CI 1.56-23.6) for homozygous 677T mothers vs. homozygous 677C and heterozygous mothers. Significantly low levels of erythrocyte folate were found in the 677C homozygous case group and in plasma folate in the 677C/677T heterozygous case mothers. CONCLUSIONS: Our study suggests that folate deficiency and MTHFR unfavorable genotype in mothers are important risk factors for severe NTD phenotype in our population.

Adult↗
PubMed1994

Prevention of neural tube defects with periconceptional folic acid.

A body of convincing evidence demonstrates that periconceptional folic acid supplements are associated with a reduction in the risk for first occurrences of neural tube defect and for recurrence of neural tube defects among women with a previously affected pregnancy. The mechanism(s) of this protective effect are unknown, and although the effect can be seen with folate doses between 0.4 and 4 mg, the optimal dose remains unknown. The optimal method of ensuring that all women of child-bearing age receive this dose of folate remains in question; supplementation offers the advantage of targeting only the population at risk, whereas food fortification offers the advantage of ensuring compliance in virtually all of the population at risk. The use of periconceptional folic acid can be expected to reduce, but not abolish, the incidence of neural tube defects. Research into the mechanism(s) of the protective effects of folic acid and the underlying biology of neural tube defects is required to address the problem of how to develop therapeutic strategies to further reduce the impact of neural tube defects.

Diet↗
PubMed1988

Periconceptional use of multivitamins and the occurrence of neural tube defects.

We studied the association between multivitamin use during the periconceptional period and the occurrence of neural tube defects using data from the Atlanta Birth Defects Case-Control Study. There were 347 babies with neural tube defects who were live born or stillborn to residents of metropolitan Atlanta from 1968 through 1980. The 2829 control-babies born without birth defects were randomly selected through birth certificates. Periconceptional multivitamin use was defined as reported use for each of the three months before conception through the first three months of pregnancy. Mothers who reported not using multivitamins any time during the six-month period were defined as nonusers. Fourteen percent of mothers reported periconceptional multivitamin use and 40% reported nonuse. Multivitamin users were different from nonusers in a number of demographic, health-related, and life-style characteristics. We found an overall apparent protective effect of periconceptional multivitamin use on the occurrence of neural tube defects, with a crude estimated relative risk of 0.40 (95% confidence interval, 0.25 to 0.63). At this time, it is not possible to determine whether this apparently lower risk is the direct result of multivitamin use or the result of other characteristics of women who use multivitamins.

Adult↗
PubMed2005

[A case control study on the relationship between trace elements and human neural tube defects].

OBJECTIVE: To explore the relationship between multi-trace elements levels in hair and human neural tube defects as well as other risk factors. METHODS: Using 88 paired cases and controls, an 1:1 matched case control study was carried out. The study subjects were collected from the China-U. S. Collaborative Project on Neural Tube Defects Prevention and Birth Defects Surveillance System. Risk factors were obtained by field investigation with standardized questionnaires and hair trace elements levels were determined by AAS and ICP-MS methods. Microwave digestion was used to digest hair samples. The detected elements would include three groups, namely nutritional elements: Cr, Mn, Cu, Zn, Co, Mo; toxic elements: Pb, As, Cd, Hg; and Lanthanons: Y, La, Pr, Nd. Cox Proportional Hazard Regression Model was used to perform risk factors analysis. RESULTS: Pregnancy fever appeared to be a risk factor of neural tube defects (OR = 6.525, P = 0.034) while hair zinc level (OR = 0.541 microg/100 g, P = 0.02) and times of prenatal physical examination (OR = 0.634, P < 0.001) served as two protective factors appeared in the last model. CONCLUSION: Zinc deficiency might serve as a risk factor for human neural tube defects, suggesting that the avoidance of pregnancy infection together with more periodical prenatal physical examination might reduce the incidence of neural tube defects.

Adult↗
PubMed2005

Indicators of mancozeb exposure in relation to thyroid cancer and neural tube defects in farmers' families.

OBJECTIVES: The fungicide mancozeb has been suspected of causing thyroid cancer and neural tube defects. The aim of the study was to investigate associations of indicators of mancozeb exposure with thyroid cancer and neural tube defects in farmers' families. METHODS: National registers in Norway, identifying 105 403 female and 131 243 male farmers, born in 1925-1971, and their 300 805 children available for analyses, born in 1952-1991, were cross-linked with national agricultural censuses, 1969-1989, and the population register. Neural tube defects (ICD-8 740-742) at birth among the 102 703 children conceived between May 1973 and April 1991 were identified in the medical birth register. Likewise thyroid cancer (ICD-7 194) was identified in the cancer register through 2000. Data on farm production and fungal forecasts (humid and temperate weather conditions) in 1973-1990, obtained from agricultural censuses and meteorological measurement stations, respectively, served as the mancozeb exposure indicators. The adjusted rate ratio or prevalence ratio (PR) estimates with 95% confidence intervals (95% CI) were computed in a Poisson regression analysis. RESULTS: Neural tube defects (131 cases, prevalence 12.8/10 000 births) was moderately associated with potato cultivation (PR 1.6, 95% CI 1.1-2.3) and paternal work of > 500 hours/year (PR 1.6, 95% CI 1.1-2.5). Altogether 319 thyroid cancer cases were identified: 141 in female farmers (incidence 10.2/100 000 person-years), 79 in male farmers (incidence 3.2/100 000 person-years), and 99 in offspring (female and male incidence 3.4 and 0.6/100 000 person-years, respectively). Mancozeb exposure was not associated with thyroid cancer. CONCLUSIONS: A moderate association seems to exist between mancozeb exposure and neural tube defects, but not between mancozeb exposure and thyroid cancer.

Agriculture↗
PubMed1995

The sensitivity of ultrasound and serum alpha-fetoprotein in population-based antenatal screening for neural tube defects. South Australia 1986-1991.

OBJECTIVE: To determine the sensitivity of antenatal screening methods for neural tube defects in population-based screening in South Australia in 1986-1991, and whether ultrasound can replace serum alpha-fetoprotein screening in terms of achieving an equivalent level of sensitivity. DESIGN AND SETTING: Ascertainment of all births and terminations of pregnancy with neural tube defects from multiple sources for 1986-1991 in South Australia. Serum and amniotic fluid alpha-fetoprotein results were obtained from the only laboratory performing the tests as a Statewide antenatal screening programme, and information on ultrasound screening from case notifications, hospital case records and medical practitioners who cared for the women. SUBJECTS: All 243 births and terminations of pregnancy with neural tube defects in South Australia in 1986-1991. MAIN OUTCOME MEASURES: The sensitivity of individual screening methods and of all methods used, particularly for spina bifida. RESULTS: For pregnancies with neural tube defects screened by any method (serum alpha-fetoprotein, ultrasound or amniocentesis), 86% sensitivity was achieved. Ultrasound screening for anencephaly achieved 100% sensitivity even in low risk pregnancies, compared with 92% for serum alpha-fetoprotein. For spina bifida, the sensitivity of ultrasound screening increased with the level of risk in pregnancy: it was 60% in low risk pregnancies, which was equivalent to that of serum alpha-fetoprotein screening (64%); 89% in high risk pregnancies and 100% for women referred for confirmation of a suspected spina bifida by another ultrasonographer (chi 1(2) for trend = 23.49, P < 0.0001). Ultrasound screening in high risk pregnancies for spina bifida achieved higher sensitivity in teaching hospitals compared with other ultrasound services in the State (97% vs 65%), but sensitivity was equivalent for low risk pregnancies. It is estimated that, had the serum screening programme not been in place, the level of sensitivity achieved for spina bifida by ultrasound and amniocentesis would have been 62% compared with the actual situation of 76% with the programme in existence, a difference of nearly 15% (95% CI 2.5 to 26.7) (chi 1(2) = 5.45, P = 0.02). CONCLUSIONS: Antenatal screening for neural tube defects in South Australia achieved a higher level of sensitivity with the maternal serum alpha-fetoprotein programme in place. We conclude that the serum screening programme should continue in South Australia pending a significant improvement in the sensitivity of routine ultrasound screening for spina bifida.

Anencephaly↗
PubMed2003

The etiology of neural tube defects: the role of folic acid.

DISCUSSION: While the cause of neural tube defects in humans is considered to be multifactorial, it is apparent that folic acid can prevent 70% of open neural tube defects. Even in laboratory animals with known genetic defects, folic acid can prevent the genetic expression. CONCLUSION: While some of the metabolic pathways for folic acid are known, the true effects of folic acid on closure of the neural tube have yet to be discovered.

Female↗
PubMed2025

National strategies for screening neural tube defects in Saudi Arabia: activating prevention and early intervention.

BACKGROUND: Neural tube defects (NTDs) are serious congenital anomalies affecting the brain and spinal cord. Despite widespread folic acid supplementation and food fortification programs, regions such as Saudi Arabia have not experienced a proportional decline in NTD prevalence. This narrative review evaluates the multifactorial contributors to NTDs, focusing on the effectiveness of current prevention and screening strategies both globally and within Saudi Arabia. MATERIALS AND METHODS: A comparative methodology guided this review, drawing from studies published between 2000 and 2024 sourced from PubMed, Scopus, and the WHO library. Keywords included "neural tube defects," "folic acid supplementation," "screening programs," and "food fortification." While not a systematic review, PRISMA principles were loosely followed to ensure study relevance and rigor. RESULTS: Globally, countries like the United States, Canada, Chile, and Australia have implemented mandatory folic acid fortification and reported NTD reductions ranging from 19 to 78%. South Africa, for example, achieved a 66% decline in NTD-related deaths post-fortification. In Saudi Arabia, similar initiatives have been launched, including folic acid campaigns and food fortification. However, national-level data evaluating their impact remains sparse. Regional disparities in implementation, awareness, and access have limited the success of these measures. Although 80.1% of Saudi women reportedly understand the preventive role of folic acid, uptake and proper timing of supplementation remain inconsistent. Screening services, particularly in rural areas, are not uniformly accessible, reducing early detection rates. Unlike countries such as Australia and Chile, Saudi Arabia lacks a standardized system for tracking and evaluating NTD outcomes. CONCLUSION: This review concludes that while Saudi Arabia has adopted commendable preventive strategies, the absence of comprehensive data, policy enforcement, and public education limits their effectiveness. Strengthening national monitoring systems, ensuring equitable access to screening, and enforcing mandatory fortification policies modelled on successful international practices are critical. Adopting evidence-based policies supported by robust evaluation frameworks will be essential to reducing the burden of NTDs and improving maternal and child health outcomes in Saudi Arabia.

Humans↗
PubMed2002

Neural tube defects in the Czech Republic during 1961-1999: incidences, prenatal diagnosis and prevalences according to maternal age.

We set out to present the incidences of the neural tube defects (anencephaly, spina bifida and encephalocele) and to document maternal age distribution and the influence of the prenatal diagnostics on incidences in neonates. We also analysed maternal age as a risk factor for the defects studied. This was a retrospective epidemiological study of neural tube defects using data from the population-based register of congenital malformations in the Czech Republic over the 1961-99 period. The total number of neural tube defects detected both pre- and postnatally was 4696 in this period (anencephaly 1857, spina bifida 2420 and encephalocele 419 cases). In this period, a significant decrease (due to improved prenatal diagnostic efficiency) in the above-mentioned defects occurred in the Czech Republic. No statistically significant correlation between any of the particular defects and the maternal age was revealed. However, neural tube defects as a whole show some correlation, the probability of these defects occurring being higher than expected in 15- and 32-year-old mothers. By application of the two-sided 95% CI, statistically significant correlation was found in 15-, 35- and 39-year cohorts; in other age-groups above the age of 32 years this correlation was neither confirmed nor rejected. In this study, maternal age as a risk factor for the origin of neural tube defects has not been statistically confirmed. However, probability estimate makes this correlation possible. Statistical methods in use reveal the risk for these defects (regarding their relative incidences) only in maternal age groups of 15, 35 and 39 years.

Adolescent↗
PubMed1980

Maternal fever and neural tube defects.

It has been proposed that hyperthermia in the pregnant woman is associated with neural tube defects in her offspring. We analyzed retrospective interview data for a maternal history of probable febrile illness during the first trimester of pregnancy among mothers of infants with anencephaly or spina bifida. There were two control groups--mothers of infants with Down syndrome and mothers of infants with cleft lip or palate. With the Down syndrome group serving as controls, the incidence of febrile illness among mothers of all infants with neural tube defects was significantly elevated. With the cleft group as controls, the fever incidence was not significantly increased in the neural tube defect groups. When the combined cleft and Down syndrome controls were used, only mothers of the spina bifida group had an elevated fever incidence. Epidemiology data suggest an association of maternal fever during pregnancy with neural tube defects in the offspring.

Anencephaly↗
PubMed1989

Biomechanical basis of diazepam-induced neural tube defects in early chick embryos: a morphometric study.

The biomechanical basis of diazepam (Valium/Roche)-induced neural tube defects in the chick was investigated using a combination of electron microscopy and morphometry. Embryos at stage 8 (four-somite stage) of development were explanted and grown for 6 hr in nutrient medium containing 400 micrograms/ml diazepam. Nearly 80% of these embryos exhibited neural tube defects that were most pronounced in the forming midbrain region and typified by a "relaxation" or "collapse" of neural folds. The hindbrain and spinal cord regions were less affected. Electron microscopy revealed that neuroepithelial cells in diazepam-treated embryos had smoother apical surfaces and broader apical widths than did controls. Morphometric measurements supported this observation and further showed that these effects were focused at sites within the wall of the forming neural tube that typically exhibit the greatest degree of bending and apical constriction (i.e., the floor and midlateral walls). Overall results indicate that neural tube defects associated with exposure to diazepam are due largely to a general inhibition of the contractile activity of apical microfilament bundles in neuroepithelial cells. These findings 1) emphasize the important contribution of microfilament-mediated apical constriction of neuroepithelial cells in providing the driving forces for bending of the neuroepithelium during neural tube formation and 2) suggest that agents or conditions that impair their contractile activity could play a role in the pathogenesis of certain types of neural tube defects.

Animals↗
PubMed1982

Prenatal diagnosis of open neural tube defects using the amniotic fluid acetylcholinesterase assay.

The most reliable tool at present for the prenatal detection of open neural tube defects is the amniotic fluid alpha-fetoprotein assay. Nevertheless its nonspecificity and false-positive results produced by fetal blood admixture and other less well-defined causes have spurred the search for a more specific test. Increased amniotic fluid acetylcholinesterase activity has been reported in association with open neural tube defects. The authors have assayed acetylcholinesterase in second-trimester amniotic fluid samples with previously determined alpha-fetoprotein values from 200 pregnancies with 96.5% of the outcomes known. These pregnancies were selected because of known fetal abnormalities or difficulties in prenatal diagnosis. High alpha-fetoprotein and acetylcholinesterase activity was detected in all 66 cases of open neural tube defects. The authors were able to reclassify correctly 89% of normal pregnancies with spuriously high alpha-fetoprotein by demonstrating no acetylcholinesterase band after slab gel in electrophoresis. Nine cases with a normal outcome but high alpha-fetoprotein values and acetylcholinesterase activity constitute the remaining false-positive results. Notwithstanding the false-positive results, which may have been due to undetected fetal blood admixture, the acetylcholinesterase gel electrophoresis assay is clearly a valuable adjunctive test to the alpha-fetoprotein assay for the prenatal detection of neural tube defects. Although no specific for open neural tube defects, acetylcholinesterase analysis by gel electrophoresis of amniotic fluid is significantly less influenced by fetal blood than is alpha-fetoprotein and, furthermore, may prove as reliable a diagnostic test for open neural tube defect.

Acetylcholinesterase↗
PubMed1989

Multivitamin/folic acid supplementation in early pregnancy reduces the prevalence of neural tube defects.

We examined the relation of multivitamin intake in general, and folic acid in particular, to the risk of neural tube defects in a cohort of 23,491 women undergoing maternal serum alpha-fetoprotein screening or amniocentesis around 16 weeks of gestation. Complete questionnaires and subsequent pregnancy outcome information was obtained in 22,776 pregnancies, 49 of which ended in a neural tube defect. The prevalence of neural tube defect was 3.5 per 1000 among women who never used multivitamins before or after conception or who used multivitamins before conception only. The prevalence of neural tube defects for women who used folic acid-containing multivitamins during the first 6 weeks of pregnancy was substantially lower--0.9 per 1000 (prevalence ratio, 0.27; 95% confidence interval, 0.12 to 0.59 compared with never users). For women who used multivitamins without folic acid during the first 6 weeks of pregnancy and women who used multivitamins containing folic acid beginning after 7 or more weeks of pregnancy, the prevalences were similar to that of the nonusers and the prevalence ratios were close to 1.0.

Adult↗