Nutritional deficiencies are preventable etiological and epigenetic factors causing congenital abnormalities, first cause of infant mortality. Folate deficiency has a well-established teratogenic effect, leading to an increasing risk of neural tube defects. This paper highlights the most recent medical literature about folate deficiency, be it maternal or paternal. It then focuses on associated...

Many women do not receive folic acid supplements before conception. In response, most of Canada's cereal grain products were being fortified with folic acid by January, 1998, thereby providing an additional 0.1-0.2 mg per day of dietary folate to the Canadian population. We assessed the effect of supplementation on prevalence of open neural tube defects in the province of Ontario. Among 336 963...

Cases of neural tube defects born in Western Australia during the years 1966-81 were identified from hospital records and death certificates. The overall rate for the 16 year period was 1.81 cases of neural tube defects per 1000 births. The rate rose and then fell over the 16 years. The initial lower rate may have been due to underascertainment, but the recent dramatic fall is statistically sig...

We identified two novel mouse mutants with abnormal head-shaking behavior and neural tube defects during the course of independent ENU mutagenesis experiments. The heterozygous and homozygous mutants exhibit defects in the orientation of sensory hair cells in the organ of Corti, indicating a defect in planar cell polarity. The homozygous mutants exhibit severe neural tube defects as a result of...

Genetic variations affecting neural tube closure along the head result in malformations of the face and brain. Neural tube defects (NTDs) are among the most common birth defects in humans. We previously reported a mouse mutant called tuft that arose spontaneously in our wild-type 3H1 colony. Adult tuft mice present midline craniofacial malformations with or without an anterior cephalocele. In a...

Neural tube defects (NTDs) are a class of birth defects characterized by defective closure of the neural tube during the first month of gestation. Reports from six states during the period of 1985-1994 demonstrated that the rate of NTDs in the United States varies by geographical area and by race/ethnicity. The reported rate ranged from 3.8 to 9.6 per 10,000 live births (CDC, ‘95). Recent epide...

Neural tube defects (NTDs) are congenital birth defects classified according to their resulting morphological characteristics in newborn patients. Current diagnosis of NTDs relies largely on the structural evaluation of fetuses using ultrasound imaging, with biochemical characterization used as secondary screening tools. The multigene etiology of NTDs has been aided by genetic studies, which ha...

T he cause of neural tube defects (NTDs) is multi-factorial. The possibility that folic acid played a role was first reported in 1964. 1 Several clinical trials subsequently showed that the risk of recurrence and first occurrence of these abnormalities was decreased by peri-conceptional folic acid supplementation, 2–5 On the basis of these findings, supplementation of 400 µg folic acid was reco...

This is a retrospective record of the analgesic management during labour of 16 patients with spina bifida seen at Leicester Royal Infirmary Maternity Hospital between March 1994 and February 1996. The information highlights the potential difficulties in providing epidural analgesia for this patient group, and demonstrates how an antenatal pre-anaesthetic clinic can help to optimize pain managem...