Genetic Diseases And Development Disabilities: Aspects Of Detection And Prevention

Tamah L Sadick

Introduction -- Overview -- Prevention Through Screening and Carrier Detection -- Genetic Screening -- Screening of Newborn Infants -- Screening for Alpha-1-antitrypsin Deficiency -- Carrier Detection in Duchenne Muscular Dystrophy and Implications for Genetic Counseling in X-linked Disease -- Recent Advances and Experience in Prenatal Diagnosis -- Prenatal Diagnosis of Chromosomal Disorders -- Prenatal Detection of Neural Tube Defects -- Prenatal Diagnosis by Fetoscopy and Fetal Blood Sampling Including Initial Attempts to Diagnose Duchenne Muscular Dystrophy -- Prenatal Diagnosis of the Hemoglobinopathies -- Bridging the Gap Between Research and Practice -- A Place for Genetics in Health Education and Vice-Versa