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

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. Front Matter....Pages i-xxv Genetic Counseling....Pages 1-17 Amniocentesis....Pages 19-46 Amniotic Fluid....Pages 47-74 Amniotic Fluid Cell Culture....Pages 75-91 The Prenatal Diagnosis of Chromosomal Disorders....Pages 93-156 Sex Chromosome and X-Linked Disorders....Pages 157-208 Prenatal Diagnosis of Hereditary Biochemical Disorders of Metabolism....Pages 209-367 Biochemical and Biological Problems and Pitfalls of Cell Culture for Prenatal Diagnosis....Pages 369-377 Prenatal Diagnosis of Neural Tube Defects....Pages 379-430 Diagnosis of Fetal Abnormalities by Ultrasound....Pages 431-467 Radiographic Fetal Diagnosis....Pages 469-499 Fetoscopy and Fetal Blood Sampling....Pages 501-526 Utilization of Trophoblast for Early Prenatal Diagnosis....Pages 527-539 Fetal Cells in the Maternal Circulation....Pages 541-555 Diagnosis, Treatment, and Prevention of Isoimmune Hemolytic Disease of the Fetus....Pages 557-568 Role of Infectious Agents in Birth Defects....Pages 569-585 Elective Abortion....Pages 587-602 Medicolegal Aspects of Prenatal Diagnosis....Pages 603-620 The Morality and Ethics of Prenatal Diagnosis....Pages 621-635 Prenatal Diagnosis and Public Policy....Pages 637-660 Back Matter....Pages 661-704 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 Pr 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.