Genetic Diseases and Developmental Disabilities: Aspects of Detection and Prevention

ISBN-13: 9780367018290 / Angielski / Twarda / 2019 / 154 str.

Tamah L Sadick

Opis

Advances in medical genetics during the past two decades have made possible the detection and prevention of many genetic disorders and developmental disabilities. The emphasis of this book is on the application of these new developments to real-life situations. Covering homozygote newborn screening, heterozygote detection in the community, and pren

Spis treści

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

O autorze

Tamah L Sadick