Here at North Texas Perinatal Associates, we believe our patients should be well informed and knowledgeable about the world of perinatal care. We also want to share some vital information with you about our office, our staff, and our services. Listed below are some of the questions we frequently encounter. Please click on the question to find the answers you need. If you are curious about a topic that does not appear on this list, please contact us at the NTPA office nearest you.
What is genetic counseling?
So you’ve been referred to see a Genetic Counselor . . .
What is a Genetic Counselor?
A genetic counselor is an important member of the perinatal health care team with specialized training in genetics and genetic disease. Because their training is so focused and specialized, the genetic counselor often has access to information and resources not readily available to your doctor. This puts the genetic counselor in the unique position of being able to serve as a liaison among you, your doctor, and the sometimes daunting world of medical genetics. If a diagnosis has been made, genetic counselors provide supportive counseling to families, serve as patient advocates, and refer individuals and families to community or state support services. Often, the genetic counselor interprets medical information and can become a most welcome support person if the information turns out to be stressful or complex.
Why do I need to see a Genetic Counselor?
Every parent hopes to have a healthy child. The good news is that most babies are born healthy. However, there are occasions where a genetic disease or birth defect may occur, or the possibility of a birth defect might exist. In these cases, you may be referred to a genetic counselor to learn whether your baby may be at increased risk for having a genetic disorder. You can discuss the choice of having one or more special tests done. Some of the more common reasons your doctor may want you to receive genetic counseling are:
- You have concerns about the chance of having a child with a birth defect or genetic disease.
- You will be 35 years of age or more at the time of expected delivery.
- You or your partner has a previous child with a birth defect or genetic condition.
- You or someone in your family have a genetic disorder or birth defect.
- You or someone in your family have a child with mental retardation or developmental delay.
- You have experienced a stillbirth or multiple miscarriages with no known explanation.
- You have a medical condition (e.g. epilepsy) requiring medications.
- You want to know more about testing for recessive genetic diseases common for certain ethnic backgrounds (e.g. sickle cell disease, Tay-Sachs disease, cystic fibrosis).
- You have a positive screening test result (e.g. first trimester screen, triple/quad screen, or AFP test).
- You have had an ultrasound examination revealing a physical abnormality or variation in the fetus.
What will the counseling session involve?
In general, the counselor will take a detailed family genetic history called a pedigree. The reason for your visit will determine just how detailed the history will be. The topic you bring to the genetic counseling session may determine the content of the discussion. Session length will depend on the reason your physician referred you, the number of questions or complexity of the family history, and may take from 15 to 60 minutes. The accuracy and appropriateness of prenatal diagnostic, genetic screening, and other tests will vary depending on your individual health and family history. Most appointments include testing preformed on the same day, if appropriate. However, you may need additional time to consider the information given to you. In those cases, an appointment for testing will be made on a separate day. Our goal is to ensure that you and your family are comfortable with your decisions and that you feel you made an informed choice. |
