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 members.
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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 members.
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)
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