Genetic Disorders and the Fetus

Diagnosis, Prevention, and Treatment

Buch | Softcover

924 Seiten

2012 | 2nd ed. 1986
Springer-Verlag New York Inc.
978-1-4684-5157-3 (ISBN)

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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.

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.

Zusatzinfo	924 p.
Verlagsort	New York, NY
Sprache	englisch
Maße	170 x 244 mm
Themenwelt	Medizin / Pharmazie ► Medizinische Fachgebiete ► Gynäkologie / Geburtshilfe
	Medizin / Pharmazie ► Medizinische Fachgebiete ► Pädiatrie
	Studium ► 2. Studienabschnitt (Klinik) ► Humangenetik
	Naturwissenschaften ► Biologie ► Genetik / Molekularbiologie
ISBN-10	1-4684-5157-X / 146845157X
ISBN-13	978-1-4684-5157-3 / 9781468451573
Zustand	Neuware