Penn Ob/Gyn Care

When to talk to a Genetic Counselor

Couples who are thinking about having a child may consider genetic counseling before conception to determine if they have an increased risk for having a child with a birth defect, Down syndrome or an inherited condition. Others may use genetic counseling and prenatal diagnosis after they conceive to evaluate the condition of the fetus.

"Genetic counseling and prenatal diagnosis are used to help answer some key questions for potential parents and to provide parents with information that they need to make important decisions about pregnancy," says Deborah Driscoll, MD, a specialist in reproductive genetics and Chair of the Department of Obstetrics and Gynecology at the University of Pennsylvania Health System.

What service does a genetic counselor provide?

Genetic counselors are health care professionals certified by the American Board of Genetic Counseling. A counselor will ask you detailed questions about your family history to determine if your child is at risk for inheriting a genetic condition or birth defect. They coordinate screening and provide answers to your questions.

Some of your questions may include:

  • Should we have a baby?
  • Are the chances of having a baby with a genetic disorder so high that choosing adoption or using a donor egg or sperm may be a better way to start a family?
  • How can we treat the fetus' potential disorder?
  • Are there surgical techniques available or other medical procedures that may help alleviate problems?
  • How do we prepare, physically and psychologically, for the possible outcome of a pregnancy?
  • Are there special educational classes, training, or information that we need in order to raise a child with a special condition?

"Preconception testing can only provide the odds of having a child with a certain birth defect; a genetic counselor will help you interpret the results of the testing and will offer options for your next steps should you have positive results," says Rose Giardine, a genetic counselor at the Hospital of the University of Pennsylvania.

Dr. Driscoll concludes, "A genetic counselor will help you figure out how to use this information, but will not make any decisions for you. It is your personal decision whether or not you want to undergo screening. Screening provided may be beneficial for some expectant parents, while others may not want to know this information prior to delivery."

If you have questions about genetic counseling, or if you would like to make a genetic counseling appointment with a Penn Ob/Gyn Care physician please call 1-800-789-PENN or you can also request an appointment online.