Talking Through The Turmoil: The Role Of Genetic Counselors With Birth Defects

“These patients are often grappling with the biggest crisis of their life.” — Janice Edwards, M.S., CGC

Janice Edwards knows the turmoil that women experience when a birth defect is suspected or diagnosed. As Director of Genetic Counseling for the Department of Obstetrics and Gynecology’s Division of Genetics, she and three other prenatal genetic counselors work with couples who have encountered abnormal test results, who have a family history of genetic disorders, or for whom advanced maternal age puts their baby at higher risk for particular chromosomal conditions.

About one-third of the patients referred to Division of Genetics and Ultrasonography have had an abnormal result on a Multiple Marker Screening test, indicating an increased risk for certain types of birth defects. The counselor’s role is to help the patient understand what the result means, work through the emotional impact of learning about an increased risk, and look at the next step for the patient to take. “We try to show patients that we have the time to really talk to them about what’s on their mind. We help them sort through their feelings and take control of the situation,” said Edwards.

One of the issues patients may struggle with during a counseling session is deciding whether to pursue additional testing and determining their level of comfort with the small risk to a fetus involved in a procedure. “Couples who experienced infertility may not want any risk,” said Edwards, “yet those who have already had a baby with a birth defect may have such high anxiety that additional testing may be the only way to alleviate their concern.”

Edwards and her staff work hand-in-hand with the maternal-fetal physicians and the Ultrasonography Division of the Department of Obstetrics and Gynecology, who have particular expertise in identifying syndromes through tests like amniocentesis and targeted, high resolution ultrasound. When such follow-up testing is done, only a small number of pregnancies are actually found to have a birth defect. “The majority of the time we are giving good news. It warms your heart to have been able to support someone during such a stressful time,” Edwards said.

When birth defects, such as spina bifida or Down syndrome are diagnosed, the genetic counselor works closely with patients and their physicians. “These patients are often grappling with the biggest crisis of their life,” Edwards said. In addition to helping patients with the shock and grief that can accompany such unwelcome news, Edwards and her counselors also function in a teaching capacity. “We allow them to absorb the in formation at their own pace. Frequently they can’t even ask much at first, but usually mobilize in a day or so,” she said. She added, “As a counselor you have to be available the next day or the day after that.”

Edwards emphasized that the genetic counselor functions like a case manager who stays in contact with the patient. "I feel like we anchor the process. Our job is to help them feel supported and plugged in to their community." For a couple expecting a baby with Down syndrome that could mean linking them up with other families with an affected child, introducing them to a support group, or getting their pastor involved.

Genetic counselors also assist parents through the Antepartum Project at Palmetto Health Richland. With the permission of the parents, the appropriate subspecialty physicians and staff at the hospital are made aware of the impending birth of a child with an identified birth defect. During the pregnancy, parents can tour the hospital's neonatal intensive care unit and talk with physicians, such as neonatologists and pediatric neurosurgeons, to learn about the care their child will require. "As a health care team we anticipate the baby's birth during the remainder of the pregnancy, and make sure the parents are supported with resources after the birth," Edwards said.

The Division of Genetics is unique in that it is also home to one of the only genetic counseling programs in the Southeast. USC's master's program has trained over 100 counselors since its inception in 1985. In addition to providing prenatal counseling, preconception counseling (for couples with specific concerns while considering pregnancy), and infertility counseling, USC Clinical Genetics has a designated cancer genetic counselor. The Division of Genetics continues to see the number of specialties that utilize genetic services grow as the knowledge of the human genome expands. In particular, there is room for expansion of collaborative efforts with family practitioners and internists now that scientists have begun to understand the genetics of common diseases. “We’d like to build that consultative relationship that has been so integral with obstetrics/gynecology, pediatrics and more recently with oncology because there are genetic diseases in every patient's history and genetics crosses all specialties of medicine," said Edwards.

Reprinted from Connections newsletter, July 2002

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