Proportion Of Neural Tube Defects Research Articles

Congenital anomalies prevalence in Addis Ababa and the Amhara region, Ethiopia: a descriptive cross-sectional study

BackgroundDuring the first three months of pregnancy, the developing embryo may be susceptible to external and internal factors, which may lead to structural and functional congenital anomalies. The main objective of this study was to determine the prevalence of congenital anomalies in Addis Ababa and the Amhara region, Ethiopia.MethodsA descriptive cross-sectional study was conducted on children 0–17 years of age who visited the 16 selected hospitals in Addis Ababa and the Amhara Region between January 1 and July 5, 2015. The proportions of neonates, infants, and children with external and internal congenital anomalies whether the anomalies were major or minor were estimated.ResultsOut of 76,201 children, 1518 of whom 57.6% were male identified with congenital anomalies. The overall proportion of congenital anomaly was 1.99% (95% CI: 1.89–2.091) i.e., 199 per 10,000 children. The proportion of neural tube defects, orofacial clefts, masculo-skeletal system anomalies, syndrome disorders, and cardiovascular system problems were 40.3% 37.7–43, 23.3% 21.3–25.4, 23.1% 20.9–25.2, 8% 6.7–9.4, and 2.6% 1.8–3.4, with a 95% CI, respectively. The majority (72.5%) of the mothers were multigravidae; 38(2.5%) of the mothers and 32(2.1%) of the fathers had history of other children with congenital anomalies. Similarly, 20(1.3%) of the participant children’s mothers and 17(1.1%) of the fathers had familial history of congenital anomaly. Iron folate and multivitamin use by mothers during preconception and early pregnancy was found to be low.ConclusionNeural tube defects, orofacial clefts, and musculoskeletal anomalies were the observed prevalent problems. Maternal illness, viral infections, and malnutrition were seen in a significant number of the mothers. Iron folate/folic acid and multivitamin use by the mothers during and before pregnancy was very low.

Inositol for the prevention of neural tube defects: a pilot randomised controlled trial.

Although peri-conceptional folic acid (FA) supplementation can prevent a proportion of neural tube defects (NTD), there is increasing evidence that many NTD are FA non-responsive. The vitamin-like molecule inositol may offer a novel approach to preventing FA-non-responsive NTD. Inositol prevented NTD in a genetic mouse model, and was well tolerated by women in a small study of NTD recurrence. In the present study, we report the Prevention of Neural Tube Defects by Inositol (PONTI) pilot study designed to gain further experience of inositol usage in human pregnancy as a preliminary trial to a future large-scale controlled trial to evaluate efficacy of inositol in NTD prevention. Study subjects were UK women with a previous NTD pregnancy who planned to become pregnant again. Of 117 women who made contact, ninety-nine proved eligible and forty-seven agreed to be randomised (double-blind) to peri-conceptional supplementation with inositol plus FA or placebo plus FA. In total, thirty-three randomised pregnancies produced one NTD recurrence in the placebo plus FA group (n 19) and no recurrences in the inositol plus FA group (n 14). Of fifty-two women who declined randomisation, the peri-conceptional supplementation regimen and outcomes of twenty-two further pregnancies were documented. Two NTD recurred, both in women who took only FA in their next pregnancy. No adverse pregnancy events were associated with inositol supplementation. The findings of the PONTI pilot study encourage a large-scale controlled trial of inositol for NTD prevention, but indicate the need for a careful study design in view of the unwillingness of many high-risk women to be randomised.

Knowledge and periconceptional use of folic acid for the prevention of neural tube defects in ethnic communities in the United Kingdom: Systematic review and meta‐analysis

BACKGROUND: It is widely accepted that periconceptional supplementation with folic acid can prevent a significant proportion of neural tube defects (NTDs). The present study evaluated how folic acid knowledge and periconceptional use for NTD prevention varies by ethnicity in the United Kingdom (U.K.).METHODS: A literature search was conducted to identify studies that included assessment of folic acid knowledge or use in U.K. women of different ethnicities. Only research and referenced sources published after 1991, the year of the landmark Medical Research Council’s Vitamin Study, were included. A meta-analysis was performed of studies that assessed preconceptional folic acid use in Caucasians and non-Caucasians.RESULTS: Five studies met the inclusion criteria for assessment of knowledge and/or use of folic acid supplements in U.K. women including non-Caucasians. The available evidence indicates that South Asians specifically have less knowledge and lower periconceptional use of folic acid than Caucasians; one study found that West Indian and African women also had lower folic acid uptake. A synthesis of results from three of the studies, in a meta-analysis, shows that Caucasians are almost three times more likely to take folic acid before conception than non-Caucasians.CONCLUSION: From the limited evidence available, U.K. women of non-Caucasian ethnicity appear to have less knowledge and a lower uptake of folic acid supplementation than Caucasians during the periconceptional period. Implementing targeted, innovative education campaigns together with a mandatory fortification policy, including the fortification of ethnic minority foods, will be required for maximum prevention of folic acid–preventable NTDs across different ethnic groups. Birth Defects Research (Part A) 97:444–451, 2013. © 2013 Wiley Periodicals, Inc.

Anterior cervical myelomeningocele: a rare malformation of the spinal cord

Cervical myelomeningocele (MMC) is an uncommon congenital malformation of the spinal cord and accounts for a small proportion of neural tube defects. These lesions mostly occur in the dorsal part of the body. Only a single case of an anterior cervical MMC has been previously reported. The authors report a second case of anterior cervical MMC diagnosed when the patient began to experience symptoms of bilateral hand weakness in adulthood. In this patient, MR imaging of the cervical spine showed an anterior cervical MMC at the C6-7 level with hydrocephalus, thinning of the genu and trunk of the corpus callosum, maldevelopment of the cerebellar tonsils, and expansion of the fourth ventricle, posterior cranial fossa, and subarachnoid space. A CT scan and a 3D CT reconstruction of the cervical spine clearly demonstrated contiguous fusions of multiple lower-cervical vertebrae and neural arches, which was consistent with Type III Klippel-Feil syndrome. The patient was advised to undergo operative treatment to prevent the progression of her neurological deficit. However, after being notified of the potential neurological risks, the patient declined surgery and opted for conservative treatment with a hard neck collar. At 4 months' follow-up, the patient's neurological deficit remains stable with the MMC left untreated. The authors presume that the possible pathogenesis of anterior cervical MMC may greatly differ from that of posterior lesions. This lesion could also be associated with multiple other spinal abnormalities, which highlights the importance of comprehensive preoperative radiological examinations.

Neural Tube Defects in a University Teaching Hospital in Southern Nigeria: Trends and Outcome

There has been some increase in the proportion of Neural Tube Defects (NTD) admitted in the University of Port Harcourt Teaching Hospital recently. Fora largely preventable birth defect, this increase is both unnecessary and unacceptable. This study was undertaken to describe the admission patterns and outcome of neural tube defects in University of Port Harcourt Teaching Hospital. A retrospective study of babies with neural tube defects who were admitted into Special Care Baby Unit (SCBU) of the University of Port Harcourt Teaching Hospital from 1st May 2002 to 30th April 2005 was carried out. Their case notes were retrieved and information on the sex, maternal drugs during pregnancy, type of defect and associated malformations, prenatal diagnosis, management and outcome were obtained. The admission rate and the incidence were then calculated. There were 2891 total admissions (1691 males and 1200 females) during the study period of which 37 (1.3%) were neonates with NTD. Of those with NTD, 25 were males and 12 female giving a male to female ratio of 2:1 (statistically not significant p = 0.242.) The total hospital delivery at the study period was 7,388 of which 7 had NTD giving an incidence of 0.95/1000 deliveries. The commonest type of NTD was myelomeningocoele in 31 (83.8%), and the commonest site was the thoracolumbar region (93.5%). Frontal encephalocoele was seen in 6 (16.2%). All the babies with myelomeningocoele presented with flaccid paraparesis and were incontinent of both urine and faeces. Seventeen of the babies had only spina bifida while 14 had additional defects including talipes equinovarus (8), hydrocephalus (2), frontal encephalocoele (1), and multiple malformations (3). Ten babies (27%) died, three of them after surgery. All the mothers received folic acid from the second trimester of pregnancy, but none did before pregnancy. The Incidence of NTD is on the increase in our environment. There is need to formulate/implement the policy of preconceptional folic acid therapy for all woman of childbearing age as a preventive measure

The Neural Tube Defect: Issues of Prenatal Diagnosis, Genetic Counselling, Prevention and Management

Neural tube defects (NTDs) are among the most common major congenital abnormalities with a prevalence rate of approximately 1 per 1000 births, although it varies significantly according to geographical location. NTDs represent the first congenital malformations shown to be preventable through simple public health measures. Ensuring adequate periconceptional folic acid intake prevents both occurrence and recurrence of a significant proportion of NTDs, but distinguishing folate resistant NTDs is not yet possible. Despite improvements in the prenatal screening, diagnosis and management of NTDs, antenatal prediction and prevention of neurological disabilities after birth remains difficult, with over one-third of long-term survivors continuing to require daily care. Ultrasound examination has virtually replaced amniotic fluid AFP and cholinesterase measurement for the diagnosis of NTDs. Emphasis now should be on primary prevention, early detection and prevention of long-term morbidity. Effective prenatal diagnosis and proper genetic counselling provides parents with a variety of options that may be appropriate for their individual situation.

Reduced folate carrier gene is a risk factor for neural tube defects in a Chinese population

There is a considerable body of data demonstrating that periconceptional supplementation of folic acid can prevent a significant proportion of neural tube defects (NTDs). At present, the mechanism by which folic acid exerts its beneficial effect remains unknown. Folate transporter genes, including the reduced folate carrier gene (RFC1), have been proposed as NTD risk factors. The study population included 104 nuclear families with NTDs and 100 nonmalformed control families. We investigated the possible association between a common RFC1 polymorphism (A80G) and NTD risk among offspring, as well as potential gene-environment interactions between the infant RFC1 genotype and maternal periconceptional use of folic acid through a population-based case-control study. We observed that the infants of the GG genotype were associated with a 2.56-fold increased risk of NTDs when compared to the AA genotype (odds ratio [OR], 2.56; 95% confidence interval [CI], 1.04-6.36) in our study population. Among mothers who did not utilize folic acid supplements, the risk for having a child with an NTD was 3.30 (95% CI, 1.15-9.65) for offspring with the GG genotype, compared to the reference (AA) genotype. Children who had the GG genotype and whose mothers did not take folic acid had an elevated risk for NTDs (OR, 8.80; 95% CI, 2.83-28.69), compared to offspring with the AA and GA genotypes whose mothers utilized folic acid supplements. Our findings suggest that the RFC1 G allele is likely to be an important genetic factor in determining folate transport and subsequently may be a risk factor for NTDs in this Chinese population.

Diagnosis and prevention of neural tube defects.

Neural tube defects, including anencephaly, meningomyelocele and encephalocele, are among the most common birth defects that result in severe mortality and morbidity. Neural tube defects occur with an incidence of 1-5 per 1000 births, showing marked geographic, ethnic and temporal variations. Although clear evidence exists on preventability of a large proportion of neural tube defects by periconceptional folic acid intake, only a low percentage of women are following the recommendations. In the past few decades diagnostic modalities have undergone a change from blood screening tests, such as alpha-fetoprotein, to imaging methods. Ultrasound has become the standard tool for early diagnosis, whereas fetal magnetic resonance imaging has gained importance in evaluating distinct coexisting anomalies of the central nervous system. Since the United States authorized the addition of folic acid to grain products in 1996, many other countries are considering folic acid fortification of their grain products, or have started fortification. Hitherto there is no consensus either to the duration of supplementation or to the best dose. Ultrasound and magnetic resonance imaging offer the possibility of early and accurate diagnosis of neural tube defects, and have therefore improved medical counseling and parents' decision making. Food fortification is the most practical way of ensuring sufficient folate supplementation and is warranted during the periconceptional period.

The study of neural tube defects after the Human Genome Project and folic acid fortification of foods.

The implementation of folic acid fortification will eliminate a proportion of neural tube defects (NTD). As a result, the etiologic and clinical profiles of the developmental disorder may both change. In the assessment of NTD as it evolves, the bioinformatics structure and content of the Human Genome Project will find vital application. One important development will be an enhanced understanding of the role of folic acid in global regulation of gene expression through epigenetic processes. In addition, bioinformatics will facilitate coordination of research in the basic sciences with clinical investigations to better define remaining etiologic factors.

The cause of neural tube defects: some experiments and a hypothesis.

The mouse mutant curly-tail is an animal model for human neural tube defects (NTD). Around 60% spontaneously have NTD. It has been found that maternal administration of hydroxyurea, mitomycin C, or 5-fluorouracil on day 9 of pregnancy, that is, when the fetal neural tube is in the final stages of closure, leads to a significant reduction in the proportion of NTD (to 15 to 20%) in the offspring, while total litter size is unaffected. All these substances are inhibitors of DNA synthesis, yet are apparently beneficial to subjects predisposed to NTD. As a consequence, it is suggested that the underlying mechanism causing NTD in the mice, and also in man, is a basic metabolic defect in DNA synthesis which affects cell replication and results in abnormal morphogenesis of the neuraxis.