Medical Genetics

Introduction

Topic Index

Overview of Birth Defects

Chromosome Abnormalities

Single Gene Defects

The Difference Between a Chromosome Abnormality and a Single Gene Defect

Multifactorial Inheritance

Teratogens

Non-Traditional Inheritance

Evaluating a Child for Birth Defects

Testing for Birth Defects

Uses of Genetic Testing

Genetic Services: When, Where, How

Glossary

Support Groups

Online Resources

Genetics is the branch of medicine concerned with how hereditary and genetic factors play a role in causing a disease, birth defect, or inherited susceptibility to a health problem. 

According to a recent study published in the American Journal of Human Genetics, an underlying disorder with a significant genetic component was found in 71 percent of pediatric hospitalizations. The vast majority of underlying chronic disorders in children in this study were clearly genetic or had a genetic susceptibility. Genetic disease knows no boundaries by age, sex, race, or country of origin.

Everyone is at risk for being born with a birth defect. Most birth defects are not under our control, and are not caused by an action or inaction on the parents' part either before or during the pregnancy.

Even with normal prenatal diagnosis such as an amniocentesis, there is still a 3 percent to 4 percent chance that a child will be born with some type of birth defect or health problem.

The Human Genome Program began in 1990 with the goal of mapping the location of all of the genes on the chromosomes. This monumental achievement has given scientists the building blocks to determine how diseases are caused and hopefully, how to treat them and, ultimately, prevent them.

Medical Genetics is an overview of genetic mechanisms that can result in disease. Common examples of genetic conditions have been included for example, but are not meant to be comprehensive. The point is to understand how genetics impacts the health of our children.