Neural Tube Defects

Neural Tube Defects : From origin to treatment

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Neural tube defects affect about 4000 pregnancies a year and are thus among the most common of severe birth defects. Prenatal diagnosis can now detect about 70% of neural tube defects, but the tests produce many false positives, so the question is under what circumstances should they be recommended to pregnant women. This comprehensive volume - the collective knowledge of more than fifty-five experts in the field - provides lucid and authoritative discussions on this topic as well as on a wide variety of theoretical, experimental and clinical issues. The book is divided into three sections. Section I addresses embryology of the central nervous system, clinical features, epidemiology, and the genetics of neural tube defects. Providing a strong explanation of the mechanisms involved in NTDs formation and the genetic and environmental factors involved in their etiology, it guides the reader through the steps of diagnosis and the classification of the different types of NTDs. Section II describes in detail the assessment and treatment of the needs of individuals with NTDs. Prenatal and postnatal surgical techniques, orthopedic and urological management, genetic counselling and communication, psychological adjustment, and the transition to adulthood (including sexuality and toilet training) for patients with spina bifida are discusses. Section III presents new areas of emerging interest to society-at-large, such as how and when to fortify foods to prevent NTDs, the costs of treatment of individuals with NTDs, coverage of health care, quality of life, and the ethics of contemporary medical management. Written with a wide readership in mind, this book will be of interest to geneticists, paediatricians, neurologists, internists, graduate students, researchers interested in the field of birth defects, as well as to individuals with NTDs and their family more

Product details

  • Hardback | 424 pages
  • 213.4 x 276.9 x 30.5mm | 1,542.23g
  • Oxford University Press Inc
  • New York, United States
  • English
  • New
  • Numerous halftones, tables and line drawings
  • 0195166035
  • 9780195166033
  • 2,059,169

Review quote

This is an impressive and readable synopsis of the currently available knowledge about this tragic error of early embryological development, and the sequelae which can be so far-reaching and devastating. It serves to illustrate just how much we know, and with all this at our disposal, it might suggest that we are tantalisingly close to the end of the story. * Hum Genet, Vol 120 *show more

Table of contents

Foreword ; SECTION I: BASIC PRINCIPLES ; PART 1: CLINICAL AND MOLECULAR EMBRYOLOGY OF THE CENTRAL NERVOUS SYSTEM ; 1. Neural crest formation ; 2. The embryonic basis of neural tube defects ; 3. The zebrafish as a model for analyzing neural tube defects ; 4. Genetic regulation of early nervous system development ; PART 2: CLINICAL FEATURES OF NEURAL TUBE DEFECTS ; 5. Physical examination of the spine ; 6. Classification of neural tube defects ; 7. Syndromes with neural tube defects ; 8. The tethered cord syndrome ; 9. Prenatal screening and diagnosis of neural tube defects ; PART 3: EPIDEMIOLOGY OF NEURAL TUBE DEFECTS ; 10. Methodological issues in the study of neural tube defects ; 11. Birth defects surveillance systems and neural tube defects ; 12. An international perspective on anencephaly and spina bifida: Prevalences by the turn of the century ; 13. Maternal exposure to selected environmental factors and risk for neural tube defects in the offspring ; PART 4: GENETICS OF NEURAL TUBE DEFECTS ; 14. Nonsyndromic neural tube defects: genetic basis and genetic investigations ; 15. Genetic risk factors for neural tube defects: variants in folate metabolism ; 16. Genetics of syndromic neural tube defects ; 17. Mouse mutants as models of neural tube defects ; SECTION II: TREATMENT AND EDUCATION ; 18. Fetal surgery for myelomeningocele ; 19. Postnatal surgery for myelomeningocele ; 20. Neurosurgical management of adults with spina bifida ; 21. Orthopedic surgery ; 22. Urological care and management of patients with neural tube defects ; 23. Cognition, education and learning disorders ; 24. Transition to adulthood ; 25. Transition/toilet training, and sexuality ; 26. Psychological adjustment and family relationships in children and adolescents with spina bifida ; 27. When and how to communicate to people with spina bifida and their families ; 28. Genetic counselling and interpretation of risk figures ; SECTION III: PUBLIC HEALTH ISSUES ; 29. Preventing all folic acid-preventable spina bifida ; 30. The half-life of cost-of-illness estimates: the case of spina bifida ; 31. Insurance and coverage of care for individuals with spina bifida and other neural tube defects ; 32. Assessment of health-related quality of life in individuals with neural tube defects ; 33. Ethics at the forefront: moral decisions and responsibility when confronted with spina bifidashow more