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Medical Genetics
St. John's Clinic - Maternal/Fetal Medicine

Site 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

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 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.

St. John's Clinic - Maternal/Fetal Medicine offers genetic counseling to pregnant couples at its office on the St. John's Hospital campus.

Genetic counseling provides individuals and families with information on the nature, inheritance, and implications of genetic disorders to help them make informed medical and personal decisions. Indications for genetic counseling include:

  • Personal or family history of birth defects or chromosomal abnormality;
  • Family history of mental retardation;
  • Families with known or suspected hereditary conditions;
  • Couples of ethnic background at increased risk for a specific disorder;
  • Recurrent pregnancy loss or stillbirth;
  • Couples who are related;
  • Pregnant women exposed to potentially harmful agents;
  • Couples with questions about prenatal diagnosis for any disorder.

Although the service is intended to focus on issues pertinent to pregnancy or reproduction, visits are not limited to pregnant women. Women, couples, or families with pertinent histories or concerns may be referred for pre-pregnancy counseling. For more information about these services, please call 417-820-3715.

Judith Miles, M.D., Stephen Braddock, M.D., and Dimitar Gavrilov, M.D.; and their staff from University of Missouri Health Care see patients with genetic conditions two days a month at St. John's Children's Specialty Clinic. Please call 417-820-2229 for more information.

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