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

Identification, Treatment, and Prevention of Birth Defects

Glossary

Support Groups

Medical 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.

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

The Human Genome Project 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, how to possibly treat them and, ultimately, how to prevent them.

Research in medical genetics has given us information about the genetic mechanisms that can result in disease. Common examples of genetic conditions have been included but are not meant to be comprehensive. The goal is to understand how genetics affects the health of our children.