Genetic Disorders and the Fetus (eBook, PDF)

Diagnosis, Prevention, and Treatment
Redaktion: Milunsky, Aubrey

• Format: PDF

Produktbeschreibung

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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Produktdetails

• Verlag: Springer US
• Seitenzahl: 924
• Erscheinungstermin: 6. Dezember 2012
• Englisch
• ISBN-13: 9781468451559
• Artikelnr.: 44042792

Inhaltsangabe

1 Genetic Counseling: Prelude to Prenatal Diagnosis.- 1. Introductory Perspectives.- 2. Prerequisites for Genetic Counseling.- 2.1. Introduction.- 2.2. Prerequisites for Genetic Counseling.- 3. Guiding Principles in Genetic Counseling.- 3.1. Accurate Diagnosis.- 3.2. Nondirective Counseling.- 3.3. Concern for the Individual.- 3.4. Truth in Counseling.- 3.5. Confidentiality and Trust.- 3.6. Timing of Genetic Counseling.- 3.7. Parental Counseling.- 3.8. Education.- 4. Genetic Counseling As a Prelude to Prenatal Diagnosis.- 4.1. Informed Consent.- 4.2. Carrier Detection.- 4.3. Special Cases.- 4.4. Special Considerations.- 5. Counseling for "Environmental" Exposures or Maternal Illness.- 6. Psychological Aspects of Genetic Counseling.- 7. Efficacy of Genetic Counseling.- 8. References.- 2 Amniocentesis.- 1. Introduction.- 2. Prerequisites.- 3. Technique of Amniocentesis.- 3.1. Timing.- 3.2. Surgical Aspects.- 3.3. Ultrasound prior to Amniocentesis.- 3.4. Ultrasound Concurrent with Amniocentesis.- 3.5. Multiple Gestations.- 3.6. Selective Feticide.- 3.7. Rh Isoimmunization in Amniocentesis.- 3.8. Discolored Amniotic Fluid.- 4. Safety of Genetic Amniocentesis.- 4.1. Maternal Risks.- 4.2. Fetal Risks.- 4.3. Conclusions Regarding Risks.- 5. 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. Amino Acids.- 4. The Disaccharidases.- 4.1. Introduction.- 4.2. Origin of Amniotic Fluid Disaccharidases.- 4.3. Development of Amniotic Fluid Disaccharidases.- 4.4. Clinical Use of Amniotic Fluid Disaccharidases.- 5. Miscellaneous Biochemical Constituents and Other Characteristics of Amniotic Fluid.- 5.1. Trace Elements.- 5.2. Creatinine.- 5.3. Blood Group Substances.- 5.4. Immunoglobulins.- 6. Antibacterial Activity of Amniotic Fluid.- 6.1. Bacteriostatic Effect.- 6.2. Isolation of Infectious Agents.- 7. Hormones.- 8. References.- 4 Amniotic Fluid Cell Culture.- 1. Introduction.- 2. Amniotic Fluid Cell Types.- 2.1. Cellular Contents of Native Fluids.- 2.2. Colony-Forming Cells: Morphology and Nomenclature.- 2.3. Biochemical Characterization.- 2.4. Intermediate Filament System.- 3. Origin of Colony-Forming Cell Types.- 4. Culture Technique.- 5. Enhancement of Amniotic Fluid Cell Growth.- 5.1. Enrichment Techniques.- 5.2. Growth on Extracellular Matrix Surface.- 5.3. Reduction of Oxygen Supply.- 5.4. Serum Testing.- 5.5. Defined Growth Factor Supplements.- 6. Culture Hazards.- 6.1. Syringe Toxicity.- 6.2. Contamination.- 6.3. Mycoplasma.- 6.4. Plasticware and Media Storage.- 6.5. Incubator Failure.- 7. Perspective.- 8. References.- 5 Prenatal Diagnosis of Chromosome Abnormalities.- 1. Introduction.- 2. Incidence of Chromosome Abnormalities.- 2.1. Data from Live Births.- 2.2. Midtrimester Amniocentesis Data.- 2.3. Data on Spontaneous Abortuses.- 2.4. Data on Induced Abortuses.- 2.5. Data on Stillbirths and Neonatal Deaths.- 3. Indications.- 3.1. Advanced Maternal Age.- 3.2. Advanced Paternal Age (A Disputable Indication).- 3.3. Carrier of a Balanced Structural Rearrangement.- 3.4. Previous Child with Chromosome Abnormalities.- 3.5. Antenatal Sex Determination for Prenatally Undiagnosable X-Linked Disorders.- 3.6. Other Indications.- 4. Technical Considerations for Prenatal Cytogenetic Diagnosis.- 5. Problems and Pitfalls.- 5.1. Chromosome Mosaicism.- 5.2. Maternal Cell Contamination.- 5.3. Chromosome Polymorphisms.- 5.4. De Novo Structural Rearrangement.- 5.5. Supernumerary Marker Chromosomes.- 5.6. Tetraploidy.- 5.7. Problems in Cell Cultures.- 5.8. Twin Pregnancy.- 5.9. Errors in Prenatal Cytogenetic Diagnosis.- 6. Genetic Counseling in Prenatal Cytogenetic Diagnosis.- 7. Concluding Remarks.- 8. References.- 6 The Prenatal Diagnosis of the Fragile X Syndrome.- 1. Introduction.- 1.1. First Reports of the Marker or Fragile X Chromosome.- 1.2. Characterization of the Fragile X Induction System.- 1.3. The Estimated Incidence/Prevalence of the Fragile X Syndrome.- 1.4. The Fragile X Phenotype.- 1.5. Female Carriers.- 1.6. Male Carriers.- 1.7. Histiotypic Distribution of Fragile X.- 2. Worldwide Experience in Fragile X Prenatal Testing.- 2.1. Tissues Used to Detect Positive Cases.- 2.2. Fragile X Induction Systems.- 3. The 5-Fluorodeoxyuridine Fragile X Induction System and Its Effect on Fragile X Frequency and Mitotic Index.- 3.1. Introduction.- 3.2. Temporal and Cell Density Effects on the 5-Fluorodeoxyuridine Fragile X Induction System.- 4. False-Negative and False-Positive Prenatal Fragile X Diagnoses.- 5. The Future.- 5.1. General.- 5.2. DNA Restriction Fragment Length Polymorphisms Can Complement Cytogenetic Fragile X Pre- and Postnatal Diagnoses.- 6. Conclusion.- 7. References.- 7 Disorders of Lipid Metabolism.- 1. Introduction.- 2. GM1 Gangliosidoses.- 3. GM2 Gangliosidoses.- 4. Fabry Disease (Angiokeratoma Corporis Diffusum).- 5. Gaucher Disease.- 6. Metachromatic Leukodystrophy and Multiple Sulfatase Deficiency.- 7. Krabbe Disease (Globoid Cell Leukodystrophy).- 8. Niemann-Pick Disease.- 9. Farber Disease (Acid Ceramidase Deficiency).- 10. Wolman Disease and Cholesterol Ester Storage Disease.- 11. Adrenoleukodystrophy.- 12. Refsum Disease (Phytanic Acid Storage Disease).- 13. Neuronal Ceroid-lipofuscinosis (Batten Disease).- 14. Lipoprotein-Associated Disorders.- 15. References.- 8 Disorders of Mucopolysaccharide Metabolism.- 1. Hurler Syndrome (?-L-Iduronidase Deficiency: Mucopolysaccharidosis IH).- 2. Scheie Syndrome (?-L-Iduronidase Deficiency: Mucopolysaccharidosis IS).- 3. Hurler-Scheie Compound Disease (?-L-Iduronidase Deficiency: Mucopolysaccharidosis IH/S).- 4. Hunter Syndrome (Iduronate Sulfatase Deficiency: Mucopolysaccharidosis II).- 5. Sanfillipo Syndrome (Mucopolysaccharidosis III).- 6. Morquio Syndrome (Mucopolysaccharidosis IV).- 7. Maroteaux-Lamy Syndrome (Mucopolysaccharidosis VI).- 8. ?-Glucuronidase Deficiency (Mucopolysaccharidosis VII).- 9. References.- 9 Disorders of the Metabolism of Amino Acids and Related Compounds.- 1. Introduction.- 2. Urea Cycle Disorders.- 2.1. N-Acetylglutamate Synthetase Deficiency.- 2.2. Carbamylphosphate Synthetase Deficiency.- 2.3. Ornithine Carbamyltransferase Deficiency.- 2.4. Argininosuccinate Synthetase Deficiency (Citrullinemia).- 2.5. Argininosuccinate Lyase Deficiency (Argininosuccinic Aciduria).- 2.6. Arginase Deficiency (Hyperargininemia).- 2.7. Therapy for Urea Cycle Disorders.- 3 Disorders of Ornithine Metabolism.- 3.1. Hyperornithemia, Hyperammonemia, and Homocitrullinuria (HHH Syndrome).- 3.2. Ornithine Aminotransferase Deficiency Associated with Gyrate Atrophy of the Choroid and Retina.- 4 Disorders of Lysine Metabolism.- 4.1. Periodic Hyperlysinemia with Hyperammonemia.- 4.2. Familial Hyperlysinemia.- 4.3. Saccharopinuria.- 5 Disorders of Sulfur Amino Acid Metabolism.- 5.1. Hypermethioninemia.- 5.2. Homocystinuria Due to Cystathionine ?-Synthase Deficiency.- 5.3. ?-Cystathionase Deficiency.- 5.4. Sulfite Oxidase Deficiency.- 5.5. Combined Sulfite Oxidase Deficiency and Xanthine Oxidase Deficiency (A Defect in Molybdenum Metabolism).- 6 Disorders of Phenylalanine Metabolism.- 6.1. Phenylketonuria.- 6.2. Hyperphenylalaninemia Due to Tetrahydrobiopterin Deficiency.- 7 Disorders of Tyrosine Metabolism.- 7.1. Hereditary Tyrosinemia Type I (Hepatorenal Type).- 7.2. Other Types of Tyrosinemia.- 8 Nonketotic Hyperglycinemia.- 9 Disorders of Branched-Chain Amino Acid Metabolism.- 9.1. Hypervalinemia.- 9.2. Hyperleucine-isoleucinemia.- 9.3. Maple Syrup Urine Disease.- 10 Disorders of Organic Acids.- 10.1. Introduction.- 10.2. The ?-Ketothiolase Deficiencies.- 10.3. Propionic Acidemia.- 10.4. Methylmalonic Acidemia.- 10.5. Isovaleric Acidemia.- 10.6. Biotin-Resistant ?-Methylcrotonylglycinuria.- 10.7. 3-Methylglutaconic and 3-Methylglutaric Aciduria.- 10.8. 3-Hydroxy-3-methylglutaryl-CoA Lyase Deficiency.- 10.9. 3-Hydroxyisobutyl-CoA Deacylase Deficiency.- 10.10. Glutaric Acidemia Type I.- 10.11. Multiple Acyl-CoA Dehydrogenation Disorders (Glutaric Aciduria Type II, Ethylmalonic-adipic Aciduria, Dicarboxylic Aciduria).- 10.12. 4-Hydroxybutyric Aciduria.- 10.13. Mevalonic Aciduria.- 11. Disorders of the Peroxisomes.- 12. Miscellaneous Disorders of Amino Acid Metabolism.- 12.1. Prolidase Deficiency.- 12.2. Disorders of Proline Metabolism.- 12.3. Histidinemia.- 12.4. Disorders of Renal Amino Acid Transport.- 13. References.- 10 Prenatal Diagnosis of Disorders of Carbohydrate Metabolism.- 1. Introduction.- 2. Observations and Comments on 39 Metabolic Disorders.- 3. Conclusion.- 4. References.- 11 X-Linked Diseases and Disorders of the Sex Chromosomes.- 1. Introduction.- 2. Clinical Significance of X-Chromosome Inactivation.- 3. Chromosome-Related Problems.- 3.1. XXY and Related Syndromes.- 3.2. The XYY Individual.- 3.3. XX Males and True Hermaphrodites.- 3.4. Miscellaneous Structural Disorders of the Y Chromosome.- 3.5. Turner Syndrome.- 3.6. The 47, XXX Female.- 3.7. Miscellaneous Structural Disorders of the X Chromosome.- 3.8. XY Gonadal Dysgenesis and Agenesis.- 3.9. Translocations Involving Sex Chromosomes.- 3.10. Fragile X Syndrome.- 4. Prenatal Diagnosis.- 4.1. Fetal Sex Determination.- 4.2. Determination of the Sex Chromatin (Barr Body).- 4.3. Y-Chromosome Fluorescence.- 4.4. Complete Chromosome Analysis.- 4.5. Amniotic Fluid Hormone Levels.- 4.6. Molecular Techniques.- 4.7. Ultrasonography.- 4.8. Preconception Sex Selection.- 4.9. Prenatal Diagnosis from Fetal Blood or Tissue.- 4.10. Biochemical Assays.- 4.11. Fetal Imaging.- 4.12. DNA-Related Tests: Direct Identification of Mutant Genes.- 4.13. Diagnosis when the Disease Locus Is Not Known.- 5. References.- 12 Prenatal Detection of Congenital Adrenal Hyperplasia.- 1. Introduction.- 2. 21-Hydroxylase Deficiency.- 2.1. Background.- 2.2. Prenatal Diagnosis of 21-Hydroxylase Deficiency.- 2.3. Prenatal Treatment of Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.- 3. 11?-Hydroxylase Deficiency.- 3.1. Background.- 3.2. Prenatal Diagnosis of Congenital Adrenal Hyperplasia Due to 11?-Hydroxylase Deficiency.- 4. Conclusion.- 5. References.- 13 Prenatal Diagnosis of Cystic Fibrosis.- 1. Introduction.- 2. Prevalence and Genetics.- 3. Early Attempts at Prenatal Diagnosis of Cystic Fibrosis.- 3.1. Alkaline Phosphatase Inducibility.- 3.2. 4-Methylumbelliferylguanidinobenzoate Protease Titration.- 3.3. Immunoreactive Trypsin.- 4. Micro villar Enzymes and the Prenatal Diagnosis of Cystic Fibrosis.- 4.1. Confirmation of Diagnosis.- 4.2. Pregnancies Suitable for Prenatal Diagnosis.- 4.3. Current Status of Microvillar Enzyme Testing.- 5. Molecular Biology and Prenatal Diagnosis.- 6. Conclusions.- 7. References.- 14 Prenatal Diagnosis of Miscellaneous Biochemical Disorders.- Inborn Errors of Folate and Cobalamin Metabolism.- 1. Inborn Errors of Folate Metabolism.- 1.1. Congenital Folate Malabsorption.- 1.2. Formiminotransferase Deficiency.- 1.3. Methylenetetrahydrofolate Reductase Deficiency.- 2. Inborn Errors of Cobalamin Metabolism.- 2.1. Transcobalamin II Deficiency.- 2.2. Disorders of Vitamin B12 Utilization.- 3. References.- Prenatal Diagnosis of Adenosine Deaminase Deficiency, Purine Nucleoside Phosphorylase Deficiency, and Severe Combined Immunodeficiency of Unknown Etiology.- 1. Introduction.- 2. Prenatal Diagnosis of Adenosine Deaminase Deficiency.- 3. Prenatal Diagnosis of Purine Nucleoside Phosphorylase Deficiency.- 4. Prenatal Diagnosis of Severe Combined Immunodeficiency of Unkown Etiology.- 5. Prenatal Diagnosis of Other Immunodeficiency Disorders.- 6. References.- Prenatal Diagnosis of Cytinosis.- 1. Cystinosis.- 2. Nephropathic Cystinosis.- 3. Benign Cystinosis.- 4. Late Onset Cystinosis (Intermediate or Adolescent Cystinosis).- 5. Prenatal Diagnosis.- 6. Therapy.- 7. References.- Prenatal Diagnosis of Miscellaneous Genetic Disorders.- References.- 15 Biochemical and Biologic Problems and Pitfalls in the Prenatal Diagnosis of Inborn Errors of Metabolism.- 1. Introduction.- 2. Cell-Free Amniotic Fluid.- 3. Noncultivated Amniotic Fluid Cells.- 4. Cultured Amniotic Fluid Cells.- 4.1. Biologic Problems in Amniotic Fluid Cell Culture.- 4.2. Biochemical Pitfalls in the Use of Cultivated Amniotic Fluid Cells for the Diagnosis of Inborn Errors of Metabolism.- 5. References.- 16 The Prenatal Diagnosis of Neural Tube and Other Congenital Defects.- 1. Introduction.- 2. Etiology.- 3. Biology of ?-Fetoprotein.- 4. Amniotic Fluid ?-Fetoprotein.- 4.1. Experience with Amniotic Fluid ?-Fetoprotein Assays.- 4.2. False-Positive and False-Negative Rates.- 4.3. Twin Pregnancy.- 4.4. Causes of Elevated Amniotic Fluid ?-Fetoprotein in the Absence of Neural Tube Defects.- 4.5. Problems and Pitfalls.- 5. Amniotic Fluid Acetylcholinesterase.- 5.1. Experience.- 5.2. Advantages and Disadvantages of the Acetylcholinesterase Assay.- 5.3. Recommendations for Prenatal Diagnosis of Neural Tube Defects Using Amniotic Fluid ?-Fetoprotein and Acetylcholinesterase Assays.- 6. Other Techniques to Detect Neural Tube Defects.- 7. Maternal Serum ?-Fetoprotein Screening.- 7.1. Experience with Maternal Serum ?-Fetoprotein Screening.- 7.2. ?-Fetoprotein Assay Considerations.- 7.3. Maternal Serum ?-Fetoprotein Screening and Diabetes Mellitus.- 7.4. Maternal Serum ?-Fetoprotein As a Predictor of Adverse Pregnancy Outcome.- 7.5. Other Causes of Elevated Serum ?-Fetoprotein Levels.- 7.6. Maternal Serum ?-Fetoprotein Screening or Ultrasound for Neural Tube Defects.- 7.7. Maternal Serum ?-Fetoprotein Screening for Down Syndrome.- 8. Primary Prevention of Neural Tube Defects.- 8.1. Genetic Counseling.- 8.2. Nutritional Supplementation.- 9. Patient and Family Considerations.- 10. Maternal Serum ?-Fetoprotein Screening and Cost-Benefit Analysis.- 11. Maternal Serum ?-Fetoprotein Screening: Policy Guidelines.- 12. The Impact of Maternal Serum ?-Fetoprotein Screening.- 13. First Trimester Maternal Serum ?-Fetoprotein Screening.- 14. References.- 17 Diagnosis of Fetal Abnormalities by Ultrasound.- 1. Introduction.- 2. Ultrasound Imaging Techniques.- 3. Safety of Ultrasound.- 4. Diagnosis of Fetal Malformations.- 4.1. Craniospinal Defects.- 4.2. Gastrointestinal Tract Defects.- 4.3. Urinary Tract Anomalies.- 4.4. Congenital Heart Disease.- 4.5. Skeletal Dysplasias.- 4.6. Abnormalities of the Amniotic Fluid Volume.- 4.7. Hydrops Fetalis.- 4.8. Cystic Hygromas.- 5. Routine Ultrasound Examination.- 5.1. Gestational Age.- 5.2. Multiple Pregnancy.- 5.3. Fetal Abnormalities.- 6. Ultrasound As a Guide to Invasive Techniques for Prenatal Diagnosis.- 6.1. Amniocentesis.- 6.2. Fetal Blood Sampling.- 6.3. Fetal Tissue Biopsy.- 6.4. Chorionic Villus Sampling.- 7. References.- 18 Fetal Blood Sampling and Fetoscopy.- 1. Fetoscopy.- 1.1. History.- 1.2. Instrumentation.- 1.3. Fetoscopy Room.- 1.4. The Fetoscopist.- 1.5. Timing of the Procedure.- 1.6. Procedure.- 1.7. Risks of Fetoscopy.- 1.8. Indications for Fetoscopy.- 2. Placental Aspiration.- 3. Percutaneous Umbilical Cord Blood Sampling.- 4. Uses of Fetoscopically Obtained Material for Prenatal Diagnosis.- 4.1. Congenital Immunodeficiency.- 4.2. Overview of the Cell Components of the Immune System.- 4.3. Severe Combined Immunodeficiency Syndrome.- 4.4. Chronic Granulomatous Disease.- 5. Blood Sampling in the Assessment of Fetal Infection.- 5.1. Toxoplasmosis.- 5.2. Rubella.- 5.3. Cytomegalovirus.- 6. Cytogenetic Diagnosis Using Midtrimester Fetal Blood Samples.- 7. Prenatal Diagnosis of Coagulopathies.- 7.1. Disorders of Factor VIII: Hemophilia A and von Willebrand Disease.- 7.2. Prenatal Diagnosis of Hemophilia B.- 7.3. Prenatal Diagnosis of the Thrombocytopenias.- 8. Prenatal Diagnosis of the Hemoglobinopathies.- 9. Prenatal Diagnosis of Skin Disorders.- 10. Fetal Liver Biopsy.- 11. Selective Feticide.- 12. References.- 19 Prenatal Diagnosis of the Hemoglobinopathies.- 1. Introduction.- 2. Clinical Types.- 2.1. ?-Thalassemia.- 2.2. ?-Thalassemia.- 2.3. Hemoglobin E Thalassemia.- 2.4. Sickle Cell Thalassemia.- 2.5. Sickle Cell Anemia.- 3. Carrier Detection.- 4. Prenatal Diagnosis Using Fetal Blood.- 4.1. Fetal Blood Sampling.- 4.2. Methods of Analysis.- 4.3. Limitations.- 5. Prenatal Diagnosis Using Fetal DNA.- 5.1. Amniotic Fluid DNA.- 5.2. Chorionic Villus DNA.- 5.3. Methods of Analysis: DNA Hybridization.- 5.4. Methods of Analysis: Restriction Enzyme Mapping.- 5.5. Limitations of DNA Methods.- 6. Future Prospects.- 7. References.- 20 Chorionic Villus Sampling.- 1. Introduction.- 2. Anatomy of Early Human Gestation.- 3. History of Chorionic Villus Sampling.- 4. Currently Used Techniques of Chorionic Villus Sampling.- 4.1. Catheter Aspiration under Sonographic Guidance.- 4.2. Sonographically Guided Biopsy Forceps.- 4.3. Endoscopically Directed Biopsy Forceps.- 4.4. Transabdominal Needle Biopsy under Sonographic Guidance.- 4.5. Relative and Absolute Contraindications to Chorionic Villus Sampling.- 4.6. Chorionic Villus Sampling in Twin Gestation.- 5. Laboratory Analyses Using Chorionic Villi.- 5.1. Cytogenetic Analyses.- 5.2. Enzymatic Analyses.- 5.3. DNA Analyses.- 6. Questions to Be Answered about Chorionic Villus Sampling.- 7. References.- 21 Molecular Genetic Techniques for Prenatal Diagnosis.- 1. Introduction.- 2. Background: DNA and Gene Structure.- 2.1. DNA Structure.- 2.2. Gene Structure.- 3. Molecular Genetic Techniques Used in Prenatal Diagnosis.- 3.1. Restriction Endonuclease Analysis and Southern Blots.- 3.2. Mutation-Specific Oligonucleotide Probes: ?1-Antitrypsin Deficiency.- 4. Applications of Molecular Genetic Techniques to Prenatal Diagnosis.- 4.1. Chromosome-Specific Probes.- 4.2. Gene-Specific Probes.- 4.3. Genetic Disorders of Unknown Biochemical Basis.- 5. Problems and Pitfalls.- 5.1. Sampling Techniques.- 5.2. Sources of Error.- 5.3. Time Required for Sample Analysis.- 6. Future Directions.- 6.1. Additional Disease-Specific Probes.- 6.2. Construction of a Human Linkage Map.- 6.3. Technical Improvements.- 7. Conclusion.- 8. References.- 22 Fetal Diagnosis by X Ray.- 1. Radiation Hazards.- 2. Plain Roentgenograms.- 3. Other Techniques.- 4. Uses and Possible Uses.- 5. References.- 23 Prenatal Detection of Connective Tissue Disorders.- 1. Introduction.- 2. Heritable Disorders of Connective Tissue.- 2.1. Ehlers-Danlos Syndrome.- 2.2. Marfan Syndrome.- 2.3. Cutis Laxa.- 2.4. Homocystinuria.- 2.5. Osteogenesis Imperfecta.- 2.6. Arthrogryposis.- 2.7. Chondrodystrophies.- 2.8. Mucopolysaccharidoses.- 2.9. Genetically Inherited Skin Diseases.- 3. Other Conditions with Skin or Connective Tissue Involvement As a Secondary Effect.- 3.1. Myotonic Dystrophy.- 3.2. Systemic Lupus Erythematosus.- 3.3. Myasthenia Gravis.- 3.4. Conditions Associated with Teratogens.- 4. References.- 24 Elective Abortion: Techniques, Risks, and Complications.- 1. Introduction.- 2. Timing of Abortions.- 3. Techniques.- 3.1. Surgical Evacuation.- 3.2. Induction of Uterine Contractions.- 3.3. Cervical Dilatation.- 4. Conclusions.- 5. References.- 25 Human Metaphase Chromosomes: Analysis and Sorting by Flow Cytometry.- 1. Introduction to Flow Cytometry and Human Chromosomes.- 2. Preparation Methods.- 3. The Technique of Flow Cytometry.- 4. Fluorescence Distribution of Human Chromosomes.- 5. Fluorescence Profiles of Human Chromosomes.- 6. Chromosome Sorting.- 7. Concluding Comments.- 8. References.- 26 Diagnosis, Treatment, and Prevention of Isoimmune Hemolytic Disease of the Newborn.- 1. Introduction.- 2. Counseling the Sensitized Patient.- 3. Management.- 3.1. Intrauterine Transfusion.- 3.2. Alternative and Experimental Management Regimens.- 4. References.- 27 Prenatal Diagnosis and Management of Congenital Malformations in the Third Trimester of Pregnancy.- 1. Introduction.- 2. Diagnostic Methods.- 2.1. Ultrasound.- 2.2. Amniocentesis.- 2.3. Fetal Blood Sampling in the Third Trimester.- 2.4. Urine Sampling.- 2.5. X-Ray Examination and Amniography.- 3. Screening.- 3.1. Routine Screening with Ultrasound.- 3.2. Biochemical Screening.- 4. Indications for Third Trimester Prenatal Diagnosis.- 4.1. Complaints by the Pregnant Woman.- 4.2. Obstetrician's Findings.- 4.3. Intrauterine Growth Disturbance.- 4.4. Abnormal Amounts of Amniotic or Fetal Fluid.- 5. Some Parental Diseases Associated with Fetal Congenital Malformations.- 5.1. Diabetes.- 5.2. Cystic Fibrosis.- 5.3. Hyperthyroidism.- 5.4. Connective Tissue Disease.- 6. Some Genetic Structural Abnormalities in the Fetus.- 6.1. Urinary System Malformations.- 6.2. Gastrointestinal Abnormalities.- 6.3. Abdominal Wall Defects.- 6.4. Congenital Heart Disease.- 6.5. Nervous System Malformations.- 6.6. Skeletal Abnormalities.- 6.7. Myotonic Dystrophy.- 7. Treatment and Ethical Problems.- 8. Problems and Possibilities of Third Trimester Prenatal Diagnosis.- 9. Advantages of Third Trimester Prenatal Diagnosis.- 10. References.- 28 Medicolegal Aspects of Prenatal Diagnosis.- 1. Introduction.- 2. General Concepts of Medical Malpractice.- 3. The Constitutional Right of Privacy in Reproductive Decisions.- 4. The Doctrine of Informed Consent.- 5. The Development of Prenatal Law and Preconception Tort Law.- 6. Wrongful Birth and Wrongful Life Suits.- 6.1. Some Definitions.- 6.2. The Evolution of Wrongful Birth Suits Brought by Parents.- 6.3. Recent Trends in Wrongful Life Suits Brought by Children.- 6.4. Analysis of Alleged Negligent Acts and Outcomes in Wrongful Birth and Wrongful Life Suits in Cases Resulting in the Birth of an Abnormal Child.- 7. Final Comments from the Vantage Point of the Child.- 8. Appendix: Summaries of Cases Listed in Table II.- 9. References.- 29 Moral Problems and Ethical Guidance in Prenatal Diagnosis: Past, Present, and Future.- 1. Introduction.- 1.1. The Purposes and Tasks of Ethics.- 1.2. Descriptive Ethics and Metaethics (Nonnormative Ethics).- 1.3. General Normative Ethics and Applied Normative Ethics.- 2. Problems of Moral Choice in Prenatal Diagnosis.- 2.1. Abortion Choices.- 2.2. Controversial Indications for Prenatal Diagnosis.- 2.3. Problems in Disclosure of Findings.- 2.4. Risks, Benefits, and Research in Prenatal Diagnosis.- 2.5. Problems in Access to and Distribution of Service.- 3. Is There a Dominant Body of Ethical Guidance for Prenatal Diagnosis?.- 3.1. Hypothesis A: A Dominant Moral Approach Has Evolved.- 3.2. Ethical Guidance for Prenatal Diagnosis.- 3.3. Consequences of Existing Ethical Guidance.- 4. The Future: Ethics and Trends in Prenatal Diagnosis.- 4.1. Coevolution of Technical, Legal, and Ethical Issues.- 4.2. Hypothesis B: Technical Trends Will Introduce New Ethical Choices in Prenatal Diagnosis That Will Increasingly Involve Society's Interests.- 5. Conclusion: Is There a Need for Consensus on Ethical Guidance in Prenatal Diagnosis?.- 6. References.- 30 Prenatal Diagnosis and Public Policy.- 1. Introduction.- 2. Government Support of Research, Development, and Assessment of New Technologies.- 3. Patient Care and Population Screening.- 4. Government Regulation of Products and Tests.- 5. Insurance Coverage/Payment for Genetic Services.- 6. A Framework for Decision-Making: Tools for Public Policy Analysis.- 7. Public Education, Public Attitudes, Access to Information from Screening.- 8. References.