Overview of Birth Defects
Single Gene Defects
The Difference Between a Chromosome Abnormality and a Single Gene Defect
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
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.
According to a 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 they are not caused by an action or inaction on the parents' part either before or during the pregnancy.
Even with normal prenatal diagnosis through testing like 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 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, 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 impacts the health of our children.