Genetic counseling

What is genetic counseling?

Genetic counseling helps you understand how genes, birth defects and other medical conditions run in families, and how they can affect your health and your baby’s health.

Genes are parts of your body’s cells that store instructions for how your body grows and works. Genes are passed from parents to children. A birth defect is a health condition that’s present at birth. Birth defects change the shape or function of one or more parts of the body. They can cause problems in overall health, in how the body develops or in how the body works.

You get genetic counseling from a genetic counselor. Your counselor can be:

• A certified genetic counselor (also called a CGC). This is someone who has special training to be a genetic counselor.
• A doctor or nurse with special training in genetic counseling

You can get genetic counseling any time, before or during pregnancy. Your health care provider can help you find a genetic counselor in your area. Or contact the National Society of Genetic Counselors.

Who should get genetic counseling?

You may want genetic counseling if:

• You have or think you have a genetic condition, or you have a child with a genetic condition, like cystic fibrosis or sickle cell disease, or a birth defect, like a heart defect or cleft lip or palate. These conditions may run in your family or ethnic group. An ethnic group is a group of people, often from the same country, who share language or culture. Some genetic conditions run in ethnic groups. For example, people who are Ashkenazi Jews are more likely than others to have Tay-Sachs disease and other genetic conditions.
• You’re 35 or older. If you’re older than 35 when you get pregnant, you’re more likely than younger women to have a baby with a birth defect.
• You and your partner are first cousins or other blood relatives. Blood relatives are related by birth (like children, brothers, sisters, cousins), not by marriage (like sister- or brother-in-law).
• Your job, lifestyle or medical history may increase your baby’s chances of having a genetic condition or birth defect. For example, working with certain chemicals, like weed killer or radiation, can cause problems for a baby during pregnancy. Using street drugs or abusing prescription drugs also can affect your baby. And some medicines you take to treat a health condition or infection can be harmful to your baby during pregnancy.  
• An ultrasound or other prenatal test shows that your baby may be at increased risk for a genetic condition or birth defect. An ultrasound uses sound waves and a computer screen to show a picture of your baby inside the womb. Prenatal tests are medical tests you get during pregnancy. They help your provider find out how you and your baby are doing. 
• Your baby’s newborn screening results show that your baby may be at risk for genetic condition. Babies get newborn screening before they leave the hospital after birth to check for certain rare but serious health conditions. 
• You’ve had two or more miscarriages or babies who died after birth. A miscarriage is the death of a baby in the womb before 20 weeks of pregnancy.

What happens at genetic counseling?

When you go to see a genetic counselor, she:

• Takes your family health history. Your counselor uses this information to see how your family’s health may affect you and your children.
• May set up appointments for you to have tests to check for genetic conditions. You can get some of these tests before pregnancy to help you understand your chances of passing a genetic condition to your baby. 
• Helps you understand test results and your baby’s risk for genetic conditions. Your counselor works with you and your health care provider to help you make decisions about your baby’s health.  
• Refers you to medical specialists, education resources and support groups that focus on your baby’s condition. A support group is a group of people who have the same kind of concerns who meet together to try to help each other.

More information

• Centers for Disease Control and Prevention (CDC)
• CDC Show Your Love Campaign
• Einstein Victor Center for the Prevention of Jewish Genetic Diseases
• Genetic Alliance 
• JScreen at Emory University
• National Center for Education on Maternal and Child Health
• National Organization for Rare Disorders (NORD) 
• National Society of Genetic Counselors

Last reviewed: November, 2016