This book emphasizes the application of new developments in medical genetics to real-life situations. It includes reviews on homozygote new born screening, heterozygote detection in the community, and prenatal diagnostic techniques such as ultrasonography, amniocentesis, and fetal blood sampling.
Introduction 1. Overview: Genetics and Preventive Medicine Part I: Prevention Through Screening and Carrier Detection 2. Genetic Screening: The Heterozygote Experience 3. Screening of Newborn Infants 4. Screening for Alpha-1-antitrypsin Deficiency 5. Carrier Detection in Duchenne Muscular Dystrophy and Implications for Genetic Counseling in X-linked Disease Part Ii: Recent Advances and Experience in Prenatal Diagnosis 6. Prenatal Diagnosis of Chromosomal Disorders 7. Prenatal Detection of Neural Tube Defects 8. Prenatal Diagnosis by Fetoscopy and Fetal Blood Sampling Including Initial Attempts to Diagnose Duchene Muscular Dystrophy 9. Prenatal Diagnosis of the Hemoglobinopathies Part Iii: Bridging the Gap Between Research and Practice: Educational Implications 10. A Place for Genetics in Health Education and Vice-Versa