Genetic counselors are trained health care professionals who help families understand birth defects and how inheritance works. The following cases provide some examples of how genetic counseling can help families make informed decisions about pregnancy and childbearing.
Lisa: Family History of Mental Retardation
Lisa's brother is mentally retarded and lives away from home. She never was given a reason for his problems. Lisa is planning a family of her own and wonders whether she should be concerned. What is the outcome of genetic counseling?
OutcomeLisa's brother was re-examined by physicians, leading to a diagnosis of fragile X syndrome, an X-linked disorder responsible for many cases of mental retardation in boys. Before becoming pregnant, Lisa plans to be tested to see if she is a carrier for the disorder.
Ben: Family History of Heart Disease
Ben's father died of a heart attack when he was 42. Could it happen to Ben? He wants to know whether he is at special risk and, if he is, how to protect his health. What is the outcome of genetic counseling?
Outcome
Ben's father had high levels of blood cholesterol, which can bring on early heart attack. His high cholesterol was caused by familial hypercholesterolemia, an inherited problem that affects one in 500 Americans. Ben discovered that he, too, had inherited the tendency (a 50-50 chance). To protect his health, doctors have prescribed a low-fat diet, exercise and cholesterol-lowering drugs.
Margie: Repeat Miscarriage
Margie has been pregnant three times, but each ended in an early
miscarriage. She wonders why. What is the outcome of genetic counseling?
OutcomeMargie and her husband John were offered chromosome tests, because some healthy adults have rearranged chromosomes that explain their repeated miscarriages. In this case, the couple's chromosomes were normal, so the tests did not provide an answer.
Jennifer: Chromosomal Abnormalities
Jennifer is pregnant at age 36 and is concerned about the risk of chromosome problems. She knows that the risk increases
after age 35 What is the outcome of genetic counseling?
Outcome
Jennifer learned that the chance of a chromosomal problem in her pregnancy is about one in 200. After discussing the risks and benefits with the genetic counselor, she and her husband are deciding whether
prenatal testing is the right choice for them.
Ron: Genetic Defect
Ron has trouble shaking feelings of guilt since his daughter was diagnosed with a genetic disease. He wonders if chemicals where he works could have caused the problem. What is the outcome of genetic counseling?
Outcome
Ron felt better after hearing that his daughter's medical problems result directly from a familial gene defect—and that this type of problem has never been attributed to chemical exposure.
