ABSTRACT

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

chapter |5 pages

Introduction

ByTamah L. Sadick

chapter 1|4 pages

Overview

Genetics and Preventive Medicine
ByBarton Childs

part Part I|52 pages

Prevention Through Screening and Carrier Detection

chapter 2|18 pages

Genetic Screening

The Heterozygote Experience
ByCharles R. Scriver

chapter 3|14 pages

Screening of Newborn Infants

ByRobert Guthrie

chapter 4|5 pages

Screening for Alpha-1-antitrypsin Deficiency

ByRichard C. Talamo

chapter 5|12 pages

Carrier Detection in Duchenne Muscular Dystrophy and Implications for Genetic Counseling in X-linked Disease

ByMarie-Louise E. Lubs, P. Michael Conneally, Kenneth W. Dumars, Robert M. Greenstein, W. Angus Muir

part Part II|46 pages

Recent Advances and Experience in Prenatal Diagnosis

chapter 6|9 pages

Prenatal Diagnosis of Chromosomal Disorders

BySiegfried M. Pueschel

chapter 7|13 pages

Prenatal Detection of Neural Tube Defects

ByAubrey Milunsky, Tamah L. Sadick

chapter 9|8 pages

Prenatal Diagnosis of the Hemoglobinopathies

ByDavid G. Nathan, Blanche P. Alter, Maurice J. Mahoney

part Part III|26 pages

Bridging the Gap Between Research and Practice

chapter 10|24 pages

A Place for Genetics in Health Education and Vice-Versa

ByBarton Childs