Before or during your pregnancy, you may wish to meet with a genetic counselor to address concerns about birth defects or inherited disease risks.

Typically, genetic counseling appointments go into great depth about your family and personal history. Appointments can occur immediately prior to an ultrasound appointment, or anytime in the first trimester. Couples that have a special concern about genetic disorders, such as those of Ashkenazi Jewish descent, may also wish to meet with a genetic counselor prior to pregnancy.

Genetic counselors are highly trained professionals. They typically have a master’s degree in genetic counseling and many are certified by the American Board of Genetic Counseling (ABGC). They also must undergo continuing training to stay up-to-date in this rapidly evolving field of medicine and be licensed through the State of California. They often work as part of a team of professionals that includes geneticists, diagnostic experts and maternal-fetal specialists.

Is Genetic Counseling Right for You?

You may benefit from genetic counseling and prenatal testing if:

• You are pregnant and under age 35 but would like more accurate screening for Down syndrome.
• You are pregnant and will be 35 years or older on your due date.
• You are pregnant and have an abnormal screening test result (for example, a positive Expanded AFP blood or Integrated Screening result).
• You have had an ultrasound of your fetus showing a possible birth defect.
• You have already had a child or other close relative with a birth defect or genetic disease.
• You and your partner are carriers of a recessively inherited disease such as Tay-Sachs, sickle cell anemia, cystic fibrosis or thalassemia. Some people may have an increased chance of being a carrier of certain genetic diseases based on their ethnic backgrounds.
• You are a carrier of an X-linked disease such as Fragile X, hemophilia or muscular dystrophy.
• You and your partner are closely related to each other (such as first cousins).
• You have been exposed to medications, X-rays, infections or other agents during your pregnancy that may be harmful to the developing fetus.
• You have had a miscarriage or the death of a child.
• You have a current health issue that could complicate your pregnancy, such as cancer.

In the event that testing uncovers a genetic or chromosomal concern, you receive support from your healthcare team. They will typically give you:

• An understanding of the potential problems.
• Access to the latest research.
• Contacts at community resources, including groups representing parents dealing with the same conditions.
• Resources for your own emotional and psychological well-being, including how to cope with feelings of loss and sadness.