Neural tube defects are major human congenital malformations. They are the second most common cause of perinatal death owing to birth defect in the UK and lead to considerable childhood morbidity. This book contains descriptions of normal neurulation in birds, amphibians and mammals, including humans. The anatomy of neural tube defects is discussed, with emphasis on the underlying molecular genetics, particularly in mouse strains with heritable neural tube defects. There is evidence for both genetic and environmental factors in the development of neural tube defects. Possible risk factors include anticonvulsant agents, diabetes and alcohol: the current status of epidemiological studies on these is assessed and the relative contributions of potential causative elements are critically reviewed. Clinical trials in humans have shown that folic acid consumption before and immediately after conception significantly reduces the risk of having a child with a neural tube defect. The book contains a detailed description of folic acid metabolism and discussion of how it may act during neural tube closure. The book describes methods for antenatal detection and diagnosis of neural tube defects. The feasibility of treatment, both in utero and after birth, is considered. Finally, the book presents the case for implementing a programme to ensure adequate consumption of folic acid by all women of child-bearing age. Possible objections to, or disadvantages of, such a programme are discussed fully and solutions to such problems are proposed.
Partial table of contents:
Normal Neurulation in Amphibians (A. Jacobson).
Formation and Patterning of the Avian Neuraxis: One Dozen Hypotheses (G. Schoenwolf).
Molecular Genetics of Neurulation (N. Papalopulu & C. Kintner).
Valproic Acid-Induced Neural Tube Defects (H. Nau).
Folic Acid Metabolism and Mechanisms of Neural Tube Defects (J. Scott, et al.).
Folic Acid and Neural Tube Defects: The Current Evidence and Implications for Prevention (N. Wald).
Spina Bifida: Anticonvulsants and Other Maternal Influences (L. Holmes).