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PubMed2002

Decreasing prevalence of neural tube defects in Utah, 1985-2000.

BACKGROUND: The Utah Birth Defect Network, a statewide surveillance program based in the Utah Department of Health, monitors the occurrence of all neural tube defects (NTDs). Retrospectively and prospectively population-based data was utilized to assess the trend in prevalence for NTDs in Utah from 1985-2000. METHODS: The Utah Birth Defect Network (UBDN) has prospectively identified NTDs in Utah since 1994. NTD cases, including meningomyelocele, meningocele, anencephaly (including exencephaly), encephalocele and craniorachischisis, born to women who are residents of Utah at delivery are reviewed by a pediatric geneticist. All NTDs occurring from 1985-1993 were ascertained retrospectively and documented to be a case. NTDs from all pregnancy outcomes are included (live births, stillbirths and pregnancy terminations) during the entire study period. RESULTS: NTDs in Utah have decreased significantly between 1985-2000 and remain at the lowest prevalence over the last three of those years. The most significant decrease was seen from 1993-2000. The downward trend was demonstrable for anencephaly and meningomyelocele but not for encephalocele. The proportion of NTDs diagnosed prenatally, as well as those pregnancies terminated after prenatal diagnosis have remained constant, without any evidence of an increasing trend since 1990. However, the proportion of pregnancy terminations occurring prior to twenty weeks gestation has increased significantly since 1990. CONCLUSIONS: The reason for the observed decrease is not known but is likely the result of simultaneous prevention activities locally and nationally, the Utah population's propensity for vitamin and supplement consumption, and recent food fortification. The Centers for Disease Control and Prevention recommended in 1992 that all women in their childbearing years take folic acid daily. The Utah Folic Acid Educational Campaign targeted all women of childbearing years beginning in 1996 with this message. Additionally, fortification of grains was voluntary from 1996, became mandatory in 1998 at which point NTD prevalence declined to its lowest level. These factors may have collectively contributed to the reduction observed in NTD prevalence within Utah, demonstrating the positive impact of an important public health endeavor.

Abortion, Legal↗
PubMed2003

Phenotype of the neural tube defect mouse model bent tail is not sensitive to maternal folinic acid, myo-inositol, or zinc supplementation.

BACKGROUND: Bent tail is a mouse model for X-linked neural tube defects (NTDs) that is characterized by the presence of exencephaly, a delayed posterior neuropore closure, and a tail phenotype. In addition, Bent tail shows laterality defects and increased prenatal mortality. The congenital malformations of this mouse are caused by a submicroscopic deletion that completely encompasses the gene coding for the zinc finger transcription factor Zic3. In this study we investigated the sensitivity of the phenotype of Bent tail to the nutrients folinic acid, myo-inositol, and zinc. These nutrients are thought to be involved in the etiology of NTDs, in combination with a genetic predisposition. METHODS: The most penetrant phenotype of the Bent tail mouse, the tail malformation, was used as a marker for the nutrient sensitivity of the neural phenotype. The size of the litters and the survival of the offspring, subdivided according to genotype, were analyzed as markers for the nutrient sensitivity of other phenotypic features of Bent tail. RESULTS: In confirmation of earlier studies, we observed the prenatal loss of a number of homozygous females and hemizygous males, as well as the effect of genotype on the tail phenotype of Bent tail. However, periconceptional supplementation of the maternal diet with folinic acid, myo-inositol, or zinc produced no significant effects on either the tail phenotype of the offspring or the size and genotypic composition of the litters. CONCLUSIONS: Bent tail appears to be a folinic acid-, myo-inositol-, and zinc-insensitive mouse model for NTDs.

Animals↗
PubMed1986

Potato steroidal alkaloids and neural tube defects: serum concentrations fail to demonstrate a causal relation.

Spoiled potatoes and, in particular, steroidal alkaloids have been proposed as an aetiological factor in the pathogenesis of neural tube defect (NTD). The present study involves the measurement of potato (solanum) steroidal alkaloid concentrations in serum by radioimmunoassay. Serum solanidine and total potato alkaloid concentrations were measured in two groups of women: one group pregnant with a fetus, subsequently shown to be affected by a NTD, the other with a healthy fetus. Serum alkaloid concentrations were, contrary to expectations, lower in the NTD group. They lend no weight therefore to the theory that potato alkaloids are responsible for NTD, but are consistent with the opinion that some water-soluble vitamins lessen the risk.

Diosgenin↗
PubMed2001

Folate, homocysteine and neural tube defects: an overview.

Folate administration substantially reduces the risk on neural tube detects (NTD). The interest for studying a disturbed homocysteine (Hcy) metabolism in relation to NTD was raised by the observation of elevated blood Hcy levels in mothers of a NTD child. This observation resulted in the examination of enzymes involved in the folate-dependent Hcy metabolism. Thus far, this has led to the identification of the first and likely a second genetic risk factor for NTD. The C677T and A1298C mutations in the methylenetetrahydrofolate reductase (MTHFR) gene are associated with an increased risk of NTD and cause elevated Hcy concentrations. These levels can be normalized by additional folate intake. Thus, a dysfunctional MTHFR partly explains the observed elevated Hcy levels in women with NTD pregnancies and also, in part, the protective effect of folate on NTD. Although the MTHFR polymorphisms are only moderate risk factors, population-wide they may account for an important part of the observed NTD prevalence.

Animals↗
PubMed2004

Folate promotion in Western Australia and the prevention of neural tube defects.

OBJECTIVES: We conducted a case-control study to investigate the effectiveness of efforts to increase folate intake in Western Australia (WA) for the prevention of neural tube defects (NTD). METHODS: Case (36) and control (578) mothers completed questionnaires, from which their intake of folate from supplements and food (including fortified foods) was estimated. RESULTS: Almost one-third of women took folic acid supplements periconceptionally. Supplement use was associated with a non-significant 4% reduction in risk. For women not taking supplements, dietary sources of folate were protective, and most women obtained at least some folate from fortified food. CONCLUSIONS: For the two-thirds of WA women not taking supplements, fortified food is an important source of folate for the prevention of NTD. IMPLICATIONS: Greater promotion of foods currently allowed to be fortified with folate, or mandatory fortification, is needed to maximise prevention of NTD in Australia.

Adolescent↗
PubMed1986

Risks to sibs of probands with neural tube defects: data for clinic populations in British Columbia.

The purpose of this study is to determine whether couples receiving genetic counselling because of a child with a neural tube defect (NTD) are a selected group and therefore not representative of the general population with respect to sib risks for NTDs. British Columbia (B.C.) provides an excellent opportunity to look at this for several reasons. Firstly, genetic counselling services are centralized. Secondly, there is virtually complete ascertainment of all infants with NTDs in the province. Thirdly, sib risks for NTDs in the general population have been derived previously [McBride, 1979] and, therefore, are available for comparison with the risks for sibships in the clinic populations. In the present study, data were available on 398 sibships in which the index case had anencephaly and/or spina bifida. In all instances, sib risks for the clinic populations did not differ significantly from those for the general population. In addition, congenital malformations other than NTDs did not occur among sibs of index cases more often than expected, based on provincial incidence data.

Anencephaly↗
PubMed2003

Prevention of neural tube defects: effect of an intervention aimed at implementing the official recommendations.

OBJECTIVES: The periconceptional intake of 0.4 mg folic acid is recommended in many countries to prevent neural tube defects. This paper describes the poor implementation of corresponding guidelines in Germany, the effectiveness of an intervention-based on providing adequate information and the problems associated with the implementation. METHODS: Two cross sectional studies investigated knowledge, attitude, and behaviour of randomly sampled gynaecologists (n = 24/27), pharmacists (n = 21/21), and women in childbed (n = 131/118) before and after the information campaign. RESULTS: Before the intervention, 3.8% of the women implemented folic-acid-prophylaxis compared with 9.3% afterwards (p = n.s.). The awareness of the prophylaxis before pregnancy correlated with socio-economic status and rose from 28% (before) to 42% after intervention (p < 0.05). Before the intervention, 38% of the gynaecologists and 38% of the pharmacists recommended the prophylaxis compared with 74% (p < 0.05) and 43% (p = n.s.) afterwards. CONCLUSIONS: The effect of the intervention was small. To improve the situation, fortification of specially selected and labelled food should be considered. An accompanying nationwide information campaign should focus on women with lower socio-economic status.

Female↗
PubMed1995

A case-control study of maternal nutrition and neural tube defects in Northern Ireland.

OBJECTIVE: to compare dietary intake and biochemical indices of nutritional status in women following birth of a baby/termination of a pregnancy affected by neural tube defect (NTD) and women with a normal baby. DESIGN: quantitative, using case control methods. SETTING: dietary records were completed by women in their own home, blood samples were taken in the local health centres. PARTICIPANTS: 15 women referred to the study following an affected pregnancy (subjects), matched with 15 women whose pregnancy outcome was normal (controls). MEASUREMENTS AND FINDINGS: 7-day weighed dietary records indicated no statistically significant differences in nutrient intake but a tendency for lower fruit and vegetable consumption in subjects than in controls. Biochemical analysis of nutritional status showed that levels of serum vitamin B12 were significantly lower in subjects, and activities of two of the nucleotide salvage pathway enzymes were significantly higher. KEY CONCLUSIONS: the findings are consistent with the findings of other research on NTD and the metabolism of folate and vitamin B12. IMPLICATIONS FOR PRACTICE: this study, and other research in this area, has implications for health professionals, including midwives with their particular involvement in prenatal care, and also highlights the need for a clearer focus on nutrition in nursing and midwifery education.

Adult↗
PubMed1984

Periconceptional vitamin supplementation and the prevention of neural tube defects in south-east England and Northern Ireland.

A comparison has been made of the effectiveness of periconceptional vitamin supplementation for the prevention of recurrence of neural tube defects (NTD) in south-east England and Northern Ireland. These areas represent the extremes of birth prevalence of NTD (low and high respectively) within the United Kingdom. Vitamin therapy resulted in a slightly less than two-fold reduction in the recurrence risk in south-east England and a greater than three-fold reduction in Northern Ireland, when compared with unsupplemented women at the same risk from the two areas. It is probable that one of the recurrences in each area did not involve the multifactorial form of NTD and, if these are excluded, then the reduction in recurrence risk with vitamin supplementation is 2.4 times in south-east England and 5.4 times in Northern Ireland. Either way, beneficial effects of supplementation are apparent in both areas but are more marked in the high prevalence area. The implications of this for the future are discussed. Two other important findings were that all but one of the recurrences of NTD with full supplementation occurred in male fetuses, and there was a higher than expected occurrence of isolated hydrocephalus in infants or fetuses following full supplementation.

Female↗