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PubMed1992

Spectrum of neural-tube defects in 34 infants prenatally exposed to antiepileptic drugs.

We analyzed the spectrum of neural-tube defects associated with maternal exposure to antiepileptic drugs (AEDs) and the possible contribution of familial and genetic factors to epilepsy or neural-tube defects. No specific association with maternal family history of neural-tube defects or epilepsy was seen. The ratio of spina bifida to anencephaly (33:1) suggested a specific association with caudal defects. Hydrocephaly was documented in at least 21 cases. Other midline defects, all associated with valproate (VPA), were hypospadias (two), hypertelorism (two), partial agenesis of corpus callosum, agenesis of septum pellucidum with lissencephaly of medial sides of occipital lobes, Dandy-Walker anomaly, and ventricular septal defect. This study shows that most neural-tube defects following maternal VPA use are severe open defects. They are frequently complicated by hydrocephaly and other midline defects. Prenatal diagnosis is possible.

Anticonvulsants↗

PubMed1993

Prevalence of neural tube defects in South Australia, 1966-91: effectiveness and impact of prenatal diagnosis.

OBJECTIVE: To determine trends in total prevalence of neural tube defects in South Australia during 1966-91, the impact of prenatal diagnosis on birth prevalence, and the effectiveness of prenatal screening for neural tube defects in 1986-91. DESIGN: All births and terminations of pregnancy affected by neural tube defects and information on prenatal screening were ascertained from multiple sources including the South Australian perinatal and abortion statistics collections, birth defects register, and state maternal serum alpha fetoprotein screening programme. SETTING: Southern Australia. SUBJECTS: All 1058 births and terminations of pregnancy affected by neural tube defects in 1966-91. MAIN OUTCOME MEASURES: Total prevalence and birth prevalence of individual and all neural tube defects. The proportion of screened cases detected prenatally. RESULTS: Total prevalence of neural tube defects during 1966-91 was 2.01/1000 births with no upward or downward trend. However, birth prevalence fell significantly (by 5.1% a year), with an 84% reduction from 2.29/1000 births in 1966 to 0.35/1000 in 1991 (relative risk = 0.16, 95% confidence interval 0.07 to 0.34). The fall was 96% for anencephaly and 82% for spina bifida. 85% of defects, both open and closed, were detected before 28 weeks' gestation in women screened by serum alpha fetoprotein or mid-trimester ultrasonography, or both, in 1986-91 (99.0% for anencephaly and 75.7% for spina bifida). CONCLUSIONS: While the total prevalence of neural tube defects in South Australia remained stable, prenatal diagnosis and termination of pregnancy resulted in an 84% fall in birth prevalence during 1966-91. Screening detected over four fifths of cases in 1986-91.

Confidence Intervals↗

PubMed1992

An epidemiologic study of neural tube defects: Delta County, Michigan, 1969-1988.

We determined the incidence of neural tube defects (anencephaly, spina bifida, hydrocephalus) in a rural county in the Upper Peninsula of Michigan because several local physicians perceived that the incidence in this area might be high. To assure that all neural tube defects that occurred were noted, data for the study were collected from hospital birth-log books, patient records of all neural tube defect births, all stillbirth records, and from records of babies transferred to other regional hospitals. A reference group consisting of 10% of all nonneural tube defect births during the 20 years of the study was selected at random and used to make comparisons to the case group. During the twenty-year period 1969-1988, the incidence of neural tube defects (NTDs) was found to be 2.09 per 1000 total births. The incidence of anencephaly was 1.05/1000; of spina bifida, 0.56/1000; and for hydrocephalus, 0.48/1000. Seasonal variations by month of conception were noted for anencephaly and spina bifida, confirming previous findings in the literature. Study results showed that between 1972 and 1976 there was a cluster of NTDs, but the NTD incidence was not statistically different from what might be expected over a twenty-year period. The incidence of NTDs in Delta County was found to be normal for this part of North America. The results of this study indicate that physicians should be cautious when attempting to interpret rare events, which often occur in clusters, leaving the impression that their incidence is excessive.

Adult↗

PubMed1976

Amniotic fluid alpha-fetoprotein as a marker in prenatal diagnosis of neural tube defects.

The prenatal diagnosis of anencephaly and spina bifida (neural tube defect, NTD) through amniotic fluid analysis for alpha-fetoprotein (AFP) is gradually gaining clinical recognition. AFP concentrations were determined in 237 amniotic fluids from normal pregnancies ranging between 7 and 42 weeks of gestation. A steady decline in AFP from 26 mug/ml at 7-9 weeks to 155 ng/ml at term is observed. AFP concentration was determined in 35 amniotic fluids from 33 confirmed neural tube defective pregnancies. In 14 cases where amniotic fluid was examined prior to the 26th week of gestation. AFP was markedly elevated when compared with the normal range of the same gestational period. In 21 amniotic fluids past the 26th week, 17 cases (85-) had markedly elevated AFP levels; however, 2 cases of anencephaly, 1 of spina bifida, and 1 of hydrocephaly gave levels within the normal range. It is concluded that elevated AFP in the amniotic fluid is a reliable but nonspecific marker for open neural tube defects prior to the 26th week of pregnancy, but may become normal after the 26th week in a small percentage of patients.

Amniotic Fluid↗

PubMed2002

Association of low maternal education with neural tube defects in Colorado, 1989-1998.

Despite increasing use of folate prior to conception, neural tube defects remain among the most common birth defects in the United States. The Study objective was to investigate the maternal and child characteristics associated with having an infant born with a neural tube defect (NTD) in Colorado between 1989 and 1998. Data were derived from a population-based case control study of all live-born infants in Colorado from 1989 to 1998 (n=551,285), utilizing birth certificate records and a statewide neural tube defect registry. Chi-square analysis and multiple logistic regression were used to assess the strength of association between sociodemographic characteristics and the main outcome measure, the birth of a child with an NTD. Final analysis was limited to those children born to mothers who themselves were born in either the United States or Mexico. In this ten-year period, there were 251 confirmed cases of NTDs in Colorado, 224 of whom were born to women who were born in either the United States or Mexico. Significant bivariate associations were found between NTDs and the following: female sex of the child, lower maternal age, maternal country of birth in Mexico, and maternal education less than tenth grade. The single strongest predictor of having a child with an NTD was low maternal education (adjusted OR 1.8, 95% CI 1.1-3.1). Low maternal education is an important predictor of having a child with an NTD. In order to further reduce the incidence of neural tube defects, interventions should target women of low educational status.

Adult↗

PubMed1982

Ultrasonography and alpha-fetoprotein determination for antenatal detection of neural tube defects.

We review our experience in the antenatal detection of neural tube defects in a collaborative study between the prenatal diagnostic program of the Section of Medical Genetics and the Ultrasound Laboratory at the West Virginia University. In West Virginia the incidence of neural tube defects is two to three times the national average. The patients were referred to the sonic laboratory for a variety of reasons, even though they had not been classified in the high risk category. Our data confirm the advantage of ultrasonography for screening of the population in the early stages of pregnancy. The study also confirmed the value of serum and amniotic fluid alpha-fetoprotein (AFP) determination in conjunction with ultrasonography, especially when there is a positive family history. The combination of modalities appears to be the best means at present for detection of these severe disorders. Screening the general population in the early stages of pregnancy by means of ultrasonography, a noninvasive technic, can help to review fetal maturity and placental localization, as well as to detect neural tube defects. High risk mothers can then be followed up by further evaluations using serum or amniotic fluid AFP studies.

Amniotic Fluid↗

PubMed1981

Prenatal detection of neural tube defects by maternal serum alphafetoprotein assay.

Mass screening for fetal neural tube defects using maternal serum alpha-fetoprotein assay as the initial test is financially justified in South Africa, despite the relatively low incidence of these defects in this country, using enzyme-linked immunosorbent assay. This technique is efficient and inexpensive and lends itself to mass screening. We report a pilot study in which 3153 maternal serum samples were received during a 4-month period. Of these 3102 were assayed and the outcome of pregnancy was recorded in 2069 cases. On the first assay 147 (4.7%) of the women had serum alpha-fetoprotein levels which were high for the gestational dates given, but in retrospect about half of these had been misinterpreted because of incorrect dates. Among the remainder, 6 women proved to be carrying twins, 4 aborted spontaneously, 10 delivered prematurely or had infants with intra-uterine growth retardation, and 4 had a fetus with a neural tube defect. Two affected fetuses were missed by screening, in both cases because serum was taken after 20 weeks gestation. In this sample the incidence in Indians (1/1000)and Coloureds (1/600) was as expected, but in Whites it was much higher (1/130), which probably reflects a sampling error and indicates that the epidemiology of neural tube defects in South Africa requires investigation.

Adolescent↗

PubMed1996

Blood folic acid and vitamin B12 in relation to neural tube defects.

OBJECTIVE: To determine the relation between blood folic acid and serum vitamin B12 in neural tube defect pregnancies using data from the MRC Vitamin Study and a literature review of all studies. DESIGN: Stored blood samples collected as part of a randomised trial of vitamin supplementation in the prevention of neural tube defects were retrieved from affected pregnancies (cases) and unaffected pregnancies (controls). Four controls were matched with each case by centre, maternal age and duration of storage of the blood sample. The samples had been collected from women at entry to the trial, immediately before the women became pregnant, and at around 12 weeks of pregnancy. Our results were combined with those already published from other studies to obtain an overall assessment of blood folic acid and vitamin B12 in relation to neural tube defects. SETTING: Blood samples were collected as part of the MRC Vitamin Study. The collaborating centres were in the United Kingdom, Hungary, Israel, Australia, Canada and Russia. PARTICIPANTS: Twenty-seven women with neural tube defect pregnancies and 108 matched controls with unaffected pregnancies. RESULTS: Serum and red cell folic acid and serum vitamin B12 levels were lower in the cases than in controls at each of the three occasions when blood samples were collected, but no comparison was significant (P > 0.05). A systematic review of all studies from the literature showed that on average, during the 1st trimester of pregnancy, serum folic acid was 0.6 ng/ml lower in neural tube defect pregnancies (P < 0.01), red cell folic acid was 77 ng/ml lower (P < 0.001) and serum vitamin B12 was 38 ng/l lower (P < 0.001). A logistic regression showed no association between serum B12 and neural tube defects after allowing for serum folic acid. CONCLUSION: our results are consistent with other evidence that folic acid and vitamin B12 levels are lower in women with neural tube defect pregnancies and consistent with evidence from randomised trials which showed that folic acid is protective.

Female↗

PubMed1987

A sonographic sign which predicts which fetuses with hydrocephalus have an associated neural tube defect.

We report a sonographic sign which reliably distinguishes those hydrocephalic fetal heads associated with a neural tube defect from those which are not, particularly in the second trimester. This sign involves a "pointed" deformity of the frontal aspect of the skull in fetuses with hydrocephalus, indicating the presence of a neural tube defect. A retrospective review of 36 cases of hydrocephalus demonstrates that this sign is particularly helpful in the second trimester, where it was present in all the fetuses with hydrocephalus and neural tube defect. It was less reliable in the third trimester; however, this sign was not present in any of the fetuses with hydrocephalus who did not have a neural tube defect. Angulation or pointing of the fetal frontal bone when hydrocephalus is present, particularly in the second trimester, seems to be a reliable predictor of an associated neural tube defect and mandates a careful search for this defect.

Female↗

PubMed1984

Epidemiology of neural tube defects in Utah, 1940-1979.

The prevalence and distribution of 991 cases of neural tube defects who were born in Utah in 1940-1979 are analyzed. The average prevalence at birth is 1.00 per 1000 births (live and stillbirths), which is similar to other states in the western United States. A decline in prevalence is observed during the past 10 years, although there is not a long-term secular trend for the whole time period. Examination of hospital records shows that 17.9% of neural tube defects were not reported on birth or fetal death certificates. The male/female sex ratio is 0.67. No seasonality is found for spina bifida cases; however, a bimodal distribution, with a substantial deficit in May, is observed for anencephaly. A significant negative correlation is found between neural tube defect prevalence and the percentage of individuals in each Utah county who are members of the Mormon Church. No association is found between levels of fallout exposure in Utah and regional variation in neural tube defects, and time-space clustering analysis demonstrates no significant clusters of neural tube defects in Utah.

Anencephaly↗

PubMed1993

Neural tube defects and serum zinc.

OBJECTIVE: To investigate the relationship of zinc in the causation of neural tube defects and so explore the possible role as a cause of these defects. DESIGN: Stored serum samples collected as part of the Medical Research Council's multicentre randomised trial section of vitamin supplementation in the prevention of neural tube defects were retrieved in respect of women who had had an affected pregnancy together with four matched unaffected controls per case. One control was selected from each of the four randomisation groups: 1. no extra vitamins; 2. folic acid supplementation alone; 3. folic acid and other vitamin supplementation; and 4. other vitamin supplementation, such that it was matched with an NTD case by study centre, maternal age (the year of birth differed at most by one year) and duration of storage of the serum sample (in most instances to within the same year). SETTING: A prospective case-control study using serum samples stored at -40 degrees C. The serum samples were collected from women at entry to the trial, immediately before the women became pregnant and at about 12 weeks of pregnancy. SUBJECTS: Twenty-seven women with a pregnancy associated with a neural tube defect and 108 matched controls with unaffected pregnancies. RESULTS: There was no association between serum zinc levels and neural tube defects; the mean values in microgram/dl were: 82 and 85 in cases and controls, respectively, at entry to the study; 86 and 87 micrograms/dl just before pregnancy; and 76 and 80 micrograms/dl in the first trimester of pregnancy. Folic acid supplementation did not have an effect on serum zinc levels. CONCLUSION: Within the range of serum zinc levels observed among women in our study, serum zinc is not a cause of neural tube defects, and periconceptional folic acid supplements do not compromise the zinc status of the mother or the embryo with respect to zinc intake.

Case-Control Studies↗

PubMed1986

Recurrent neural tube defects, risk factors and vitamins.

Data from our trial of periconceptional vitamin supplementation for the prevention of neural tube defects have been analysed to assess the influence of various factors on recurrence rates of neural tube defect. Our data suggest that the risk of recurrence of neural tube defect is influenced by the number of previous neural tube defects, area of residence, immediately prior miscarriage, and interpregnancy interval. None of these factors, however, contributed any significant differential risk between supplemented and unsupplemented mothers. Hence we conclude that the highly significant difference in recurrence rates of neural tube defect between supplemented and unsupplemented mothers was due to vitamin supplementation.

Abortion, Spontaneous↗

PubMed1989

Spinal ganglia reduction in the splotch-delayed mouse neural tube defect mutant.

Splotch and splotch-delayed mutants have anomalies in certain neural crest cell derivatives as well as neural tube defects. A genetic marker was used to identify mutant, heterozygote, and wild-type embryos within a litter, which enabled us to make intergenotypic comparisons. Histological studies of the lumbosacral region of day 15 and day 16 embryos indicated that the splotch-delayed mutant had similar but less severe defects in spinal ganglion development than those reported for splotch (Auerbach: Journal of Experimental Zoology 127:305-329, 1954). The ganglia were extensively reduced in size, residual, or missing in the splotch-delayed mutant, whereas in the splotch mutant, they were virtually nonexistent. Paired comparison analyses showed that all mutant embryos had a significant reduction in their volume of lumbosacral spinal ganglia when compared to their heterozygous and/or wild-type littermates. Also, some heterozygotes were found to have spinal ganglia volumes that were significantly reduced when compared to wild-type embryos. The volume of spinal ganglia was not related to the severity of the neural tube defect. In fact, three mutant embryos, which did not exhibit a neural tube defect, had spinal ganglia volumes comparable to or less than those mutants with open neural tube lesions or curly tails. This shows that the formation of abnormal neural crest cell derivatives is not a result of the neural tube closure defect. We hypothesize that the two anomalies observed in these mutants have a common etiological basis.

Animals↗

PubMedDate not supplied

Neural tube defects in trisomy 18.

In a retrospective survey, the incidence of neural tube defects in liveborn trimsomy 18 was found to be 6.2 per cent. Based on these data one would expect to find trisomy 18 in 1 of the 117 patients with myeloidysplasia; the incidence of trisomy 18 in dysraphic fetuses would be anticipated to be higher. These observations underscore the need for amniocentesis karyotyping of fetuses with neural tube defects, and the importance of careful examination of infants born with neural tube defects.

Adult↗

PubMed1999

Association of the 677C-->T mutation on the methylenetetrahydrofolate reductase gene in Turkish patients with neural tube defects.

We report the analysis of the 677C-->T mutation on the 5, 10-methylenetetrahydrofolate reductase gene in Turkish controls and cases of neural tube defects. Mutation analysis of 91 patients with neural tube defects, 72 mothers, 63 fathers, and 93 healthy controls has been made by polymerase chain reaction and allele specific restriction digestion with Hinf I. We did not find a significant difference in the 677C-->T allele and genotype distribution among the patients with neural tube defects, their parents, and the control group. This result suggests that another mutation in the folate-related enzyme genes could be responsible for neural tube defects in Turkey. None of the mothers of patients with neural tube defects was advised to use folic acid as recommended to prevent neural tube defects. An immediate attempt to establish an education program for healthcare providers and women of childbearing age is crucial in Turkey. Furthermore, fortification of foods with folate would be a better approach.

Adult↗

PubMed1997

Involvement of deprivation and environmental lead in neural tube defects: a matched case-control study.

OBJECTIVE: To analyse the prevalence of neural tube defects in small geographical areas and seek to explain any spatial variations with reference to environmental lead and deprivation. SETTING: The Fylde of Lancashire in the north west of England. DESIGN: Cases were ascertained as part of a prospective survey of major congenital malformations in babies born in the Fylde to residents there between 1957 and 1981. A matched case-control analysis used infants with cardiovascular system, alimentary tract, and urinary system malformations as controls. Conditional logistic regression was used to assess the effects of more than 10 micrograms/l lead in drinking water and the Townsend deprivation score. RESULTS: The prevalence of neural tube defects in 1957-73 was higher in Blackpool, Fleetwood, and North Fylde, whereas the three control groups showed no significant spatial variation. In 1957-81 mothers living in electoral wards with either a higher proportion of houses with more than 10 micrograms/l lead in the water or a higher deprivation score had a greater risk of having a baby with a neural tube defect. For spina bifida and cranium bifidum alone, this was also true. For anencephaly, deprivation was less important although the effect of lead was still seen. In some neural tube defects, lead may act independently of other possible factors associated with deprivation. It seemed unlikely that lead levels changed significantly during the survey. The percentage of houses with 10 micrograms/l or more of lead in the water in 1984-5 was similar to that found in Great Britain 10 years previously. CONCLUSION: There is evidence to suggest that lead is one cause of neural tube defects, especially anencephaly. This could link the known preventive actions of hard water and folic acid. Calcium is a toxicological antagonist of lead. One cause of a deficiency of folic acid is impaired absorption secondary to zinc deficiency, which may be produced or exacerbated by lead.

Anencephaly↗

PubMed1993

Periconceptional vitamin profiles are not suitable for identifying women at risk for neural tube defects.

Folic acid and other vitamin deficiencies may play a role in the etiology of neural tube defects. The Medical Research Council Vitamin Study confirmed the beneficial effect of folic acid supplementation on the prevention of neural tube defects. However, the concentrations of vitamins other than folate were not a common feature of any of the former studies. We measured the concentrations of vitamin A, riboflavin, riboflavine-5'-monophosphate, flavine-adenine-dinucleotide, vitamin B-6, vitamin B-12, vitamin C, vitamin E, folate and ferritin in the serum of women who had previously had a child with a neural tube defect and were planning a further pregnancy. Vitamin and folic acid supplements were supplied before conception to 44 high risk women before conception. Eighteen other high risk women not given supplements were the control group. We concluded that vitamin profiles do not form a suitable means for identifying women at risk for neural tube defects before pregnancy. This endorses the hypothesis that the beneficial effect of folic acid supplementation on the prevention of neural tube defects is possibly at least partly due to the fact that it overrides a relative folic acid shortage caused by a metabolic disorder.

Ascorbic Acid↗

PubMed1980

Prenatal detection of neural tube defects. VI. Experience with 20,000 pregnancies.

Neural tube defects (NTDs) are among the most common major congenital malformations in the United States. Prenatal detection is possible in about 95% of cases by assaying amniotic fluid for alpha-fetoprotein (AFP), which leaks from open lesions. In 20,000 pregnancies, 334 (1.7%) had a raised level of AFP. Of these, 136 (40.7%) had open NTDs, 90 (26.9%) had other fetal defects or conditions, and 108 (32.3%) almost invariably had admixed fetal blood. Pregnancy was electively terminated in 11 cases in which the AFP concentration was thought to be elevated but in which the fetus was apparently normal (0.06%), but in only two of these cases was there no explanation for the raised level of AFP. The practical false-positive rate was considerably below 0.06%. Patients at risk for bearing children with NTDs should be counseled and offered prenatal diagnosis.

Amniotic Fluid↗