STORY BY

Ellen S. Marcus, M.S.

Imagine going for your routine prenatal checkup and hearing your doctor say, “I’d like you to go for genetic counseling.” Imagine the shock, the fear, the questions swirling in your head.

That’s what happened to Cathy Jones*. Five months’ pregnant with her first baby, Cathy and her husband, Mike, were excited about starting a family. She felt fine and thought the baby was healthy.

When Cathy went for her regular prenatal checkup, her obstetrician did an ultrasound, a routine imaging test in most pregnancies. He saw evidence of birth defects, so he referred Cathy to a specialist in ultrasonography, who confirmed her doctor’s findings. Then Cathy’s doctor suggested she go for genetic counseling.

They were referred to genetic counselor Cathy Wicklund with The University of Texas Women’s Health Center at the UT Health Science Center at Houston. Although Cathy and Mike were frightened of what lay ahead, Cathy says, “Going for genetic counseling was the best thing I ever did.”

What is a Genetic Counselor?

Genetic counselors are health professionals with specialized graduate degrees and experience in the areas of medical genetics and counseling. Most enter the field from a variety of disciplines, including biology, genetics, nursing, psychology, public health or social work.

Genetic counselors work as members of a health care team, providing information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for inherited conditions. They also analyze inheritance patterns and risks of recurrence.

Hope Northrup, M.D., director of the Division of Medical Genetics at the UT Medical School at Houston and professor of pediatrics, says that for a child with a birth defect or an inheritable disease, “The goal of a genetic consultation is to make a definitive diagnosis, which allows us to give an accurate prognosis for that patient and to give parents an accurate recurrence risk.”

Northrup says that they help parents find support groups and the treatment their children need, such as physical therapy, occupational therapy and special schooling.

“We’re also the doctors’ doctors. We’re puzzle solvers when they ask for our help in making an accurate diagnosis,” Northrup explains.

Tragic discovery

Wicklund provided the Joneses genetic counseling and coordinated Cathy’s prenatal diagnostic testing. After another ultrasound confirmed that their baby had severe birth defects, cells from the baby were collected through amniocentesis, a procedure by which a sample of amniotic fluid is removed. These cells are then cultured in the lab so that the DNA can be examined.

In the case of Cathy and Mike, fetal chromosomal analysis revealed that the baby had a major chromosomal abnormality called an “unbalanced chromosomal translocation,” in which there is extra or missing chromosomal material.

Wicklund explained to the parents the exact nature of the chromosomal defect and the certainty that their baby’s problems were caused by the chromosome abnormality. She also told the Joneses that their baby would most likely be stillborn or die shortly after birth.

Chromosomal analyses of Cathy and Mike revealed that Cathy had a balanced chromosomal translocation—in her case, her chromosomal material was complete, but it was rearranged. Thus, her eggs might have extra, missing or the normal amount of chromosomal material. When such an egg is fertilized, the resulting embryo also has the same three possible outcomes.

According to Cathy, Wicklund provided the facts in a compassionate way, helping her and her husband understand the situation, answering all their questions and acting as a coordinator for Cathy’s treatment at UT Health Science Center.

Also, having gone together for genetic counseling helped Cathy and Mike talk more easily with each other about their difficult situation and the decisions they had to make. “Ms. Wicklund helped open the lines of communication between Mike and me. It would’ve been so much harder without her help,” Cathy says.

Difficult decisions

After much soul searching, prayer and consultation with their clergyman, Cathy decided to terminate the pregnancy. The prenatal diagnosis was later confirmed that the defects were so severe that the baby would not have lived.

Cathy and Mike now have a healthy 3-year-old daughter, but they endured miscarriages before and after her birth. With each pregnancy, Cathy consulted with Wicklund.

Cathy says, “Without Ms. Wicklund, I wouldn’t have been as positive as I am about any of my pregnancies. Ms. Wicklund was there for me every step of the way. She knew how to put it all in perspective.”

Genetic counseling is an integral part of today’s health care. Most patients who come for genetic counseling are referred by their obstetricians, in the case of a pregnant woman, or by their child’s pediatrician. UT Women’s Health Center also accepts patients who refer themselves.

The cost of genetic counseling depends on the time spent but usually ranges from $175–$300. Laboratory fees are based on the tests that are done. Insurance coverage depends on the individual’s insurance policy and whether the laboratory is a provider for that insurance company.

For more information about the UT-Houston genetic counseling program, contact The University of Texas Women’s Health Center (713.704.5152) or the Clinical Cancer Genetics Program at UT MD Anderson Cancer Center (713.745.7391 or ccg@mdanderson.org). For more information about genetic counseling, visit the National Society of Genetic Counselors, Inc., Web site for consumers at http://www.nsgc.org/consumer.

UPDATED: 6-26-2003

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