Genetic Counseling

Genetic counselors translate technical and complicated knowledge into practical information for individuals and families. For a couple planning a pregnancy, this is a time to explore their family medical histories to see what might impact their children. It is also a time to discuss tests may be able to detect disorders that are more common in certain ethnic groups. Finally, this is also an opportunity for a couple to explore how they feel about prenatal testing options.

Genetic Counselors are certified by the American Board of Medical Genetics and the American Board of Genetic Counseling. They have specialized training in Medical Genetics and Counseling and are prepared to discuss the choices and potential outcomes that all couples face.

During your meeting with a genetic counselor, a careful three-generation family history will be documented. This is the time to explore any family disorders that concern you.

Genetic counseling can help individuals and families:

• Understand the cause of a condition
• Learn about the chance of having children with a birth defect or condition
• Learn about current research, testing procedures, and prenatal diagnostic options
• Adjust to the personal and family issues related to a genetic disorder.

Who might benefit from genetic counseling?

• Anyone planning a pregnancy
• Women who are concerned about results from their maternal serum screening (AFP) test
• Couples who are considering amniocentesis
• Couples who have experienced repeated pregnancy loss
• Anyone with a family history of birth defects, mental retardation, or specific disorders
• Couples who are related, such as first cousins
• Parents of a child born with birth defects or an undiagnosed disorder
• Individuals of certain ethnic groups who may wish to be screened for disease-causing genes that occur more frequently in those groups
• Couples who would like to know more about newborn screening options.

What if your baby is found to have a birth defect or genetic disorder?

The genetic counselor will make sure that you understand the problem, what might be involved in the care and treatment of your child, and what specialists will be helpful to you. In some cases, you may need to make a decision about continuing the pregnancy. Genetic counselors are trained to help you explore the issues and reach a decision that is comfortable for you and your partner.

Editorial provided by Jodi Klein Rucquoi, M.S. ABMG, Certified Genetic Counselor at Greenwich Hospital.