Beschreibung:
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 D
