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Genetic Disorders and the Fetus: Diagnosis, Prevention, and Treatment

Editat de Aubrey Milunsky
en Limba Engleză Paperback – 22 mar 2012
About 21 years ago prenatal diagnosis became part of the physician's diagnostic armamentarium against genetic defects. My first monograph in 1973 (The Prenatal Diagnosis of Hereditary Disorders) critically assessed early progress and enunciated basic principles in the systematic approach to prenatal genetic diagnosis. Six years later and under the current title, a subsequent volume provided the first major reference source on this subject. The present second (effectively third) edition, which was urged in view of the excellent reception of the two earlier volumes, reflects the remarkable growth of this new discipline and points to significant and exciting future developments. Notwithstanding these advances, the use of the new tools and techniques for the benefit of at-risk parents has taken many more years than most anticipated. Key factors have been the lack of teaching of human genetics in medical schools in the preceding decades and the difficulty of educating practicing physicians in a new scientific disci­ pline. Even today the teaching of genetics in medical schools leaves much to be desired and this will further delay the introduction of newer genetic advances to the bedside.
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Specificații

ISBN-13: 9781468451573
ISBN-10: 146845157X
Pagini: 936
Ilustrații: 924 p.
Dimensiuni: 170 x 244 x 49 mm
Greutate: 1.46 kg
Ediția:2nd ed. 1986
Editura: Springer Us
Colecția Springer
Locul publicării:New York, NY, United States

Public țintă

Research

Cuprins

1 Genetic Counseling: Prelude to Prenatal Diagnosis.- 2 Amniocentesis.- 3 Amniotic Fluid.- 4 Amniotic Fluid Cell Culture.- 5 Prenatal Diagnosis of Chromosome Abnormalities.- 6 The Prenatal Diagnosis of the Fragile X Syndrome.- 7 Disorders of Lipid Metabolism.- 8 Disorders of Mucopolysaccharide Metabolism.- 9 Disorders of the Metabolism of Amino Acids and Related Compounds.- 10 Prenatal Diagnosis of Disorders of Carbohydrate Metabolism.- 11 X-Linked Diseases and Disorders of the Sex Chromosomes.- 12 Prenatal Detection of Congenital Adrenal Hyperplasia.- 13 Prenatal Diagnosis of Cystic Fibrosis.- 14 Prenatal Diagnosis of Miscellaneous Biochemical Disorders.- 15 Biochemical and Biologic Problems and Pitfalls in the Prenatal Diagnosis of Inborn Errors of Metabolism.- 16 The Prenatal Diagnosis of Neural Tube and Other Congenital Defects.- 17 Diagnosis of Fetal Abnormalities by Ultrasound.- 18 Fetal Blood Sampling and Fetoscopy.- 19 Prenatal Diagnosis of the Hemoglobinopathies.- 20 Chorionic Villus Sampling.- 21 Molecular Genetic Techniques for Prenatal Diagnosis.- 22 Fetal Diagnosis by X Ray.- 23 Prenatal Detection of Connective Tissue Disorders.- 24 Elective Abortion: Techniques, Risks, and Complications.- 25 Human Metaphase Chromosomes: Analysis and Sorting by Flow Cytometry.- 26 Diagnosis, Treatment, and Prevention of Isoimmune Hemolytic Disease of the Newborn.- 27 Prenatal Diagnosis and Management of Congenital Malformations in the Third Trimester of Pregnancy.- 28 Medicolegal Aspects of Prenatal Diagnosis.- 29 Moral Problems and Ethical Guidance in Prenatal Diagnosis: Past, Present, and Future.- 30 Prenatal Diagnosis and Public Policy.

Descriere

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Technological advances continue to expand the number of genetic disorders that can be diagnosed in utero. Utilization of this new technology has de­ manded special expertise available in relatively few academic centers. As these new applications have become more widespread so have the realities of the medicolegal implications. Notwithstanding the laboratory challenges, most legal action, at least in the United States, has arisen from the physician's failure to inform a patient about the risks of a genetic disorder or the oppor­ tunities presented by prenatal diagnosis. Hence an extensive thorough reex­ amination of the subject seems appropriate and timely. The steady escalation in the number of prenatal genetic studies now being done in the western world makes it imperative for the physician to have a thorough comprehension of the subject in its entirety. I am, therefore, fortu­ nate in having colleagues who as acknowledged experts have shared their knowledge and experience in order to make this volume a major critical repository of facts and guidance about prenatal genetic diagnosis. The subject matter ranges from a consideration of required genetic counseling through the intricacies of establishing prenatal diagnoses. Special attention is focused on new advances using ultrasound, a-fetoprotein, fetoscopy, and first trimester diagnosis. Both ethical and legal implications are discussed in detail, as is the development of public policy.