Pregnancy is an exciting time for couples but it can also be a stressful one. Being referred to a genetic counselor can temporarily raise stress levels, but genetic counseling can give moms and couples helpful information, guidance and very often peace of mind. There are many reasons a couple may be referred for prenatal genetic counseling:
- There may be a personal or family history of a genetic condition or birth defect
- They may have a child with a genetic condition or birth defect
- They may have lost a baby or lost two or more pregnancies
- The results of an ultrasound or screening test might suggest the need for genetic testing
However, many couples with no specific indication can also benefit from genetic counseling. While prenatal genetic screening is a routine part of pregnancy, it has become increasingly complicated with more and more options for patients to consider.
Prenatal genetic screening tests are designed to provide information about the risk for certain conditions. Examples of prenatal genetic screening include carrier screening (to determine if a parent is a carrier of a genetic condition such as cystic fibrosis) and chromosome abnormality screening such as noninvasive prenatal testing (NIPT) (to determine if a pregnancy is at increased risk for a chromosome condition such as Down syndrome).
Prenatal genetic testing typically refers to procedures that are more diagnostic such as an amniocentesis or chorionic villus sampling to examine the genetic information of the fetus. Genetic counseling provides a place where prospective parents can discuss these various options, and can help them decide what type of information they want -- and don't want -- to seek about their pregnancy through testing.
Regardless of the reason for the genetic counseling visit, it's quite common for people to feel anxious about going to see a genetic counselor. A large part of that anxiety comes from not knowing what to expect during your appointment.
As a prenatal genetic counselor, I approach each counseling session as an opportunity to provide patients with individualized education and support. Many times I also aid patients in decision-making regarding prenatal genetic screening or genetic testing based on the needs and desires for their current pregnancy. I also see myself as a continued resource for patients throughout their pregnancy as questions or concerns arise.
While each genetic counseling visit will be unique, just as each parent-to-be is unique, here is an example of what to expect from a prenatal genetic counseling visit.
What to Expect at a Prenatal Genetic Counseling Visit
Introduction. The session begins with a conversation with the mom and her partner and/or support person about the pregnancy, including the type of information they hope to learn from their visit and any concerns about the pregnancy they may have.
Set an Agenda . Following this initial conversation, an agenda for the session is determined to outline the type of information that will be covered to ensure both the genetic counselor and the patient are comfortable with the plan.
Review Family History. A full family and pregnancy history is obtained during the genetic counseling visit. While something in the family history may not be the reason for the referral, all decisions about genetic screening or genetic testing should be made in the context of the parents' full family history.
Information and Assessment . The genetic counselor provides information specific to the patient's timing in the pregnancy and indication for counseling. This may include an assessment of specific risks for the pregnancy and the options for testing and screening. Genetic counselors will also explain what the potential results might mean and how the health care team in addition to the parents might use the information to care for the pregnancy.
Decision-Making . If the patient has been offered prenatal screening and genetic testing, the genetic counselor will help her and her partner understand the options and consider whether they would like to pursue them.
Support. Genetic counselors are trained to address the various feelings that accompany these conversations and decision-making. Couples often feel overwhelmed by the amount of information they are receiving, are scared or nervous about the results or potential results, and are anxious about the unknowns during pregnancy. Some expectant moms are simply tired or feeling ill related to being pregnant.
Follow-up. Genetic counselors may help facilitate the genetic testing process and have a role in reporting results when available. They are also a reliable source for additional information or resources as needed.
How to Prepare for a Prenatal Genetic Counseling Appointment
- Discuss with your partner/family what type of information you want about the pregnancy
- Write down all of your questions about screening and testing options you've heard or read about
- Write down all medications or other exposures you've had during the pregnancy
- Obtain details about your family history and your partner's family history. For example, have family members experienced any of the following?
- Three or more miscarriages
- Surgery as a newborn for a birth defect
- Delayed development or speech
- Intellectual disabilities
- Cancer diagnosed before age 50
- Ahereditary condition
- If possible, bring your partner or other support person (family member or friend) with you to the genetic counseling appointment
The goal of a prenatal genetic counseling visit is to empower prospective parents to make decisions that are best for them. Whether to have genetic testing during pregnancy is a personal decision that's not always easy to make. Having up-to-date information and support can help make that decision easier. Connect with a genetic counselor in your area by using NSGC's Find a Genetic Counselor tool.
Jennifer Hoskovec , MS, CGC, is immediate past president of the National Society of Genetic Counselors, and the Director of Prenatal Genetic Counseling Services at the UTHealth Medical School in Houston.