Genetic Counseling
Each year, approximately three out of every 100 babies are born with birth defects, many of which are inherited. More than 4,000 genetic disorders have been identified, ranging from club foot to cystic fibrosis.
Genetic research has greatly expanded our understanding of hereditary diseases. By evaluating the family history and using screening tests, it’s possible to identify if a couple is at risk for having a child with a specific disorder. Diagnostic testing can then reveal if the disorder has occurred.
Patients with any of the criteria below should talk with their doctor about genetic counseling:
- Over age 35 and pregnant or considering pregnancy
- An alpha-fetoprotein (AFP) test result is higher than normal
- Triple or quad marker screening indicates an increased risk for chromosomal abnormality
- A sonogram suggests an abnormality with the fetus
- Family history of birth defects or mental retardation
- Carrier or family history of genetic disorders such as muscular dystrophy, Tay-Sachs disease, sickle cell anemia, hemophilia or thalassemia
- Two or more unexplained miscarriages
- Diabetes, epilepsy or any other chronic medical conditions
- Exposure to radiation, alcohol or drugs during pregnancy
At Carilion Clinic, genetic counseling begins with a detailed evaluation of pregnancy history and family medical history. If an area of concern is identified, further testing can provide more information.
Ann F. Jewell, M.S., and Catherine Griswold, M.S., are the genetic counselors at the Prenatal Diagnostic Center. Their goal is to provide parents with all of the details to assist them in making informed decisions. If an abnormality is found, the genetic counselor will explain the implications of the diagnosis and pregnancy management issues. This information is always provided in a supportive, non-judgmental manner. Our counselors can also direct families to community resources and support groups.
