Planning for Your Future Family?
Genetic Counseling Can Help Couples Understand Their Risk

SIOUX FALLS (Jan. 1, 2010) - All expectant parents hope for a healthy baby. Yet in some situations everything doesn't go as planned.

"In fact, approximately 3-5% of all pregnancies are born with a birth defect," said Dr. Maria Palmquist, perinatologist and medical geneticist with Avera Maternal-Fetal Medicine. "Typically patients aren't aware of these risks until an abnormal finding appears on ultrasound."

Avera McKennan offers genetic counseling for patients who find themselves in these difficult situations. Dr. Palmquist and Avera genetic counselor Nicole Rose have a special interest in high-risk pregnancies, as well as genetic risk assessment, and genetic counseling.

Genetic counseling is a communication process that provides patients with education, support, and risk assessment. "Throughout the genetic counseling process, value is placed on patient education; making sure patients know their options, but also allowing them to decide what is best for their family," Rose said.

If a serious condition or birth defect is detected, it gives parents a chance to prepare by learning about the disorder. "Education is an important component in genetic counseling. A lot of patients don't know much about a particular syndrome or disease in their family, and many times they fear the unknown," says Dr. Palmquist.

Often families are referred for genetic counseling if there is a family history of birth defects, pregnancy loss, or an inherited condition like cystic fibrosis. Other times, families discover they are at an increased risk for a genetic condition or birth defect based on screening tests run during pregnancy.

If a patient has a positive screening test or a family history of an inherited condition, additional testing is often available to rule out the specific condition. "In fact, in many cases we are reassuring to patients. Most genetic testing rules out serious conditions for expectant parents," Dr. Palmquist said. Further testing options offered at Avera during pregnancy include chorionic villus sampling performed as early as 10-12 weeks and amniocentesis, which can be performed after 16 weeks.

Tammy Westergaard of Sioux Falls and her husband Matt were referred to Avera for genetic counseling with their second pregnancy. Tammy was 35 years of age and therefore considered high risk. Ultrasound findings indicated a problem, and sadly Tammy and her husband lost their second child at 23 weeks. Although their experience was difficult, Tammy says her experience at Avera was a positive one. "The staff at Avera explained things well and made me comfortable during this difficult time. After I lost my baby, a nurse came into my room to talk with me. She asked if she could pray for me. I really liked that." Tammy also really appreciated the special things that were done to help her remember the loss of her baby boy. "They made molds of his hands and feet and took pictures, both of which have become very special to me."
 
The Westergaards have undergone additional genetic testing to rule out any inheritable conditions and are waiting for the results. "After two losses, we are at a point of deciding whether we try again to have a child, or look into adoption," Tammy said. "What we find out will definitely help determine what we choose to do in the future."

When an inheritable condition is suspected or there is a family history of an inheritable condition, small samples of blood or a skin biopsy can be taken from the mother or father. These samples can be tested to determine if they are carriers for that condition. This informs parents of their risk for having an affected pregnancy.

Genetic counseling at Avera is available to anyone, even individuals who are not currently pregnant. Genetic counseling is appropriate for those who have a family history of a birth defect or genetic condition and would like to understand their risks and testing options. "Genetic counseling prior to conception is the best scenario. It allows couples to have more information regarding future pregnancies and can help with planning a pregnancy," said Dr. Palmquist.

"Most patients have healthy babies. However, in difficult situations and those where there are genetic concerns, genetic counseling can provide additional education, support, and resources to patients, and in many cases reassurance," Rose said.

To learn more go to www.AveraWomens.org