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Topic Index

Overview of Birth Defects

Chromosome Abnormalities

Single Gene Defects

The Difference Between a Chromosome Abnormality and a Single Gene Defect

Multifactorial Inheritance


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


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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.

Picture of a model of a strand of DNA, magnified

According to a study published by the American Society of Human Genetics, about one in eight pediatric hospitalizations are due to genetic disorders. 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 goal is to understand how genetics impacts the health of our children.

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