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milunsky aubrey (curatore) - genetic disorders and the fetus

Genetic Disorders and the Fetus Diagnosis, Prevention, and Treatment




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Dettagli

Genere:Libro
Lingua: Inglese
Editore:

Springer

Pubblicazione: 03/2012
Edizione: Softcover reprint of the original 1st ed. 1979





Trama

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.




Sommario

1 Genetic Counseling: Prelude to Prenatal Diagnosis.- 1. Introduction.- 2. Guiding Principles in Genetic Counseling.- 2.1. Accurate Diagnosis.- 2.2. Nondirective Counseling.- 2.3. Concern for the Individual.- 2.4. Truth in Counseling.- 2.5. Confidentiality and Trust.- 2.6. Timing of Genetic Counseling.- 2.7. Parental Counseling.- 3. Prerequisites for Genetic Counseling.- 3.1. Knowledge of the Disease.- 3.2. Physician as Counselor.- 3.3. Ability to Communicate.- 3.4. Knowledge of Ancillary Needs.- 3.5. Humanity.- 3.6. Efficacy of Genetic Counseling.- 4. Principles in Practice: Considerations Prior to Amniocentesis and Prenatal Genetic Studies.- 5. Addendum.- 6. References.- 2 Amniocentesis.- 1. Introduction.- 2. Counseling and Consent.- 3. Ultrasound Prior to Amniocentesis.- 4. Amniocentesis Technique.- 5. Timing.- 6. Amniotic Fluid Volume Required.- 7. Risks of Second Trimester Amniocentesis.- 7.1. Fetal Risks.- 7.2. Maternal Risks.- 8. The Newborn Infant and the Child at 1 Year of Age following Amniocentesis.- 9. Addendum.- 10. References.- 3 Amniotic Fluid.- 1. Introduction.- 2. Amniotic Fluid Dynamics.- 2.1. Formation and Circulation.- 2.2. Volume.- 2.3. Origin.- 3. Biochemical and Other Characteristics of Amniotic Fluid.- 3.1. Proteins.- 3.2. Lipids.- 3.3. Enzymes.- 3.4. Disaccharidases.- 3.5. Amino Acids.- 4. Miscellaneous Biochemical Constituents and Other Characteristics of Amniotic Fluid.- 4.1. Creatinine.- 4.2. Blood Group Substances.- 4.3. Antibacterial Activity of Amniotic Fluid.- 5. Addendum.- 6. References.- 4 Amniotic Fluid Cell Culture.- 1. Cell Types.- 2. Cell Viability.- 3. Culture Techniques.- 3.1. Culture Media.- 3.2. Stimulating Cell Growth.- 4. Culture Results.- 5. Problems and Pitfalls.- 5.1. Bloody Samples.- 5.2. Mycoplasma Contamination.- 5.3. Syringe Toxicity.- 5.4. Bacterial or Fungal Contamination.- 5.5. Transport and Storage of Amniotic Fluid Cells.- 6. Karyotyping of Amniotic Fluid Cells without Culturing.- 7. Some Notes on the Establishment of a Prenatal Diagnostic Laboratory.- 8. References.- 5 Prenatal Diagnosis of Chromosomal Disorders.- 1. Introduction.- 2. Frequency of Chromosomal Disorders.- 3. Frequency of Chromosomal Disorders in Fetuses and Live Births.- 4. Worldwide Survey of Prenatal Diagnosis Experience.- 5. Indications for Prenatal Diagnosis of Chromosomal Disorders.- 5.1. Maternal Age.- 5.2. Translocation Carriers.- 5.3. Previous Child with Down Syndrome (Trisomy 21).- 5.4. Advanced Paternal Age.- 5.5. Miscellaneous Indications.- 6. Problems and Pitfalls.- 6.1. Mycoplasma Contamination.- 6.2. Chromosomal Mosaicism.- 6.3. Twins.- 6.4. Polyploidy.- 6.5. Maternal Cell Admixture.- 6.6. Unexpected Abnormal Fetal Karyotype.- 6.7. Chromosomal Polymorphisms.- 6.8. Noncytogenetic Indications for Prenatal Studies.- 6.9. “Unnecessary” Prenatal Studies: Drugs, Chemicals, and Irradiation.- 7. Errors in Prenatal Diagnosis.- 8. Automated Chromosomal Analysis.- 9. Addendum.- 10. References.- 6 Sex Chromosome and X-Linked Disorders.- 1. Introduction.- 2. Prenatal Diagnosis of Sex Chromosome Disorders.- 2.1. Sex Chromosome Disorders in Phenotypic Males.- 2.2. Sex Chromosome Disorders in Phenotypic Females.- 3. Translocations Involving Sex Chromosomes and Autosomes.- 4. Prenatal Diagnosis of X-Linked Disorders.- 5. Fetal Sex Determination.- 5.1. Sex Chromatin Mass (Barr Body).- 5.2. Y-Chromosome Flourescence.- 5.3. Complete Chromosomal Analysis.- 5.4. Amniotic Fluid Testosterone.- 6. Preconception Sex Selection.- 7. Prenatal Diagnosis of Specific X-Linked Disorders.- 7.1. Lesch-Nyhan Syndrome.- 7.2. Fabry Disease.- 7.3. Hunter Syndrome.- 7.4. Glucose-6-phosphate Dehydrogenase Deficiency.- 7.5. Menkes Kinky Hair Disease.- 7.6. X-Linked Ichthyosis.- 8. X-Linked Disorders Potentially Diagnosable in Utero.- 8.1. Adrenoleukodystrophy.- 8.2. The Androgen Resistance Syndromes.- 8.3. Chronic Granulomatous Disease.- 8.4. Combined Immunodeficiency Disease.- 8.5. Duchenne Muscular Dystrophy.- 9. Coagulation Disorders.- 10. Miscellaneous X-Linked Disorders.- 11. Addendum.- 12. References.- 7 Prenatal Diagnosis of Hereditary Biochemical Disorders of Metabolism.- 1. Introduction.- 2. Disorders of Lipid Metabolism.- 2.1. Tay-Sachs Disease (GM2 Gangliosidosis Type I).- 2.2. Sandhoff Disease (GM2 Gangliosidosis Type II).- 2.3. Juvenile GM2 Gangliosidosis (GM2 Gangliosidosis Type III).- 2.4. Juvenile Sandhoff Disease (GM2 Gangliosidosis Type IV).- 2.5. Adult (Chronic) GM2 Gangliosidosis (GM2 Gangliosidosis Type V).- 2.6. Generalized Gangliosidosis (Infantile GM1 Gangliosidosis Type I).- 2.7. Juvenile GM1 Gangliosidosis (Type II).- 2.8. Adult GM1 Gangliosidosis (Type III).- 2.9. Other Disorders with ?-Galactosidase Deficiency.- 2.10. Farber Disease (Ceramidase Deficiency).- 2.11. Gaucher Disease.- 2.12. Globoid Cell Leukodystrophy (Krabbe Disease).- 2.13. Fabry Disease (?-Galactosidase Deficiency).- 2.14. Familial Hyperlipoproteinemias.- 2.15. Familial Hypercholesterolemia.- 2.16. Metachromatic Leukodystrophy (Sulfatide Lipidosis).- 2.17. Multiple Sulfatase Deficiency (Mucosulfatidosis).- 2.18. Niemann-Pick Disease.- 2.19. Phytanic Acid Storage Disease (Refsum Syndrome).- 2.20. Wolman Disease and Cholesteryl Ester Storage Disease (Acid Cholesteryl Ester Hydrolase Deficiency).- 2.21. GM3 Sphingolipidystrophy.- 3. Disorders of Mucopolysaccharide Metabolism.- 3.1. Hurler Syndrome (?-L-Iduronidase Deficiency: Mucopolysaccharidosis IH).- 3.2. Scheie Syndrome (?-L-Iduronidase Deficiency: Mucopolysaccharidosis IS).- 3.3. Hurler-Scheie Compound Disease (?-L-Iduronidase Deficiency: Mucopolysaccharidosis IH/S).- 3.4. Hunter Syndrome (Iduronate Sulfatase Deficiency: Mucopolysaccharidosis II).- 3.5. Sanfilippo Syndrome (Mucopolysaccharidosis III).- 3.6. Morquio Syndrome (Mucopolysaccharidosis IV).- 3.7. Maroteaux-Lamy Syndrome (Mucopolysaccharidosis VI).- 3.8. ?-Glucuronidase Deficiency (Mucopolysaccharidosis VII).- 3.9. Glucosamine-6-sulfate Sulfatase Deficiency (Mucopolysaccharidosis VIII).- 4. Disorders of Carbohydrate Metabolism.- 4.1. Glycogen Storage Diseases.- 4.2. Galactosemia.- 4.3. Galactokinase Deficiency.- 4.4. Uridine Diphosphate Galactose-4-epimerase Deficiency.- 4.5. Mannosidosis.- 4.6. Fucosidosis.- 4.7. Mucolipidoses.- 4.8. Hereditary Hemolytic Anemias.- 5. Amino Acid and Related Disorders of Metabolism.- 5.1. Urea Cycle Disorders.- 5.2. Hyperlysinemia.- 5.3. Disorders of Branched-Chain Amino Acid Metabolism.- 5.4. ?-Methylcrotonic Aciduria.- 5.5. Disorders of Propionate, Methylmalonate, and Cobalamin Metabolism.- 5.6. Disorders of Sulfa Amino Acid Metabolism.- 5.7. Renal Amino Acid Transport Disorders.- 6. Miscellaneous Biochemical Genetic Disorders of Metabolism.- 6.1. Acatalasemia.- 6.2. Chediak-Higashi Syndrome.- 6.3. Combined Immunodeficiency Disease.- 6.4. Congenital Adrenal Hyperplasia.- 6.5. Cystic Fibrosis.- 6.6. Disorders of Collagen Metabolism.- 6.7. Cystinosis.- 6.8. Disorders of Glutathione Synthesis.- 6.9. Disorders of Proline and Hydroxyproline Metabolism.- 6.10. Disorders of Folate Metabolism.- 6.11. Huntington’s Chorea.- 6.12. Hypophosphatasia.- 6.13. Lysosomal Acid Phosphatase Deficiency.- 6.14. Myotonic Muscular Dystrophy.- 6.15. Orotic Aciduria.- 6.16. The Porphyrias.- 6.17. Xeroderma Pigmentosum.- 6.18. Other Miscellaneous Disorders.- 7. Addendum.- 8. References.- 8 Biochemical and Biological Problems and Pitfalls of Cell Culture for Prenatal Diagnosis.- 1. Introduction.- 2. Biological Problems in Amniotic Fluid Cell Culture.- 3. Biochemical Pitfalls in the Use of Cultivated Aminiotic Fluid Cells for the Diagnosis of Inborn Errors of Metabolism.- 4. References.- 9 Prenatal Diagnosis of Neural Tube Defects.- 1. Introduction.- 2. Etiology.- 3. Biology of ?-Fetoprotein.- 4. Amniotic Fluid ?-Fetoprotein.- 4.1. Published Experience.- 4.2. Boston Experience.- 4.3. Twins.- 4.4. False-Positive and -Negative Results.- 4.5. Elevated AFP Concentrations in the Absence of Neural Tube Defects.- 5. Problems and Pitfalls.- 5.1. Ultr










Altre Informazioni

ISBN:

9781468434408

Condizione: Nuovo
Dimensioni: 244 x 170 mm Ø 1240 gr
Formato: Brossura
Illustration Notes:XXVI, 704 p.
Pagine Arabe: 704
Pagine Romane: xxvi


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