What is genetic counseling?

Genetic counseling is the process of determining the risk you have of passing on an inheritable disease to your baby. Genetic counseling involves a specially trained healthcare professional who identifies families at risk, investigates the problem present in the family, interprets information about the disorder, analyzes inheritance patterns and risks of recurrence, and reviews available options with the family.

Who should seek genetic counseling?

Genetic counseling is not necessary for the majority of couples who are pregnant or planning on getting pregnant. Genetic counseling should be considered by couples who have one or more of the following risk factors:

• Abnormal results are obtained from routine prenatal testing
• Amniocentesis results identify a chromosomal defect
• An inherited disease is present in a close family member
• If either partner has already had a child with a birth defect or genetic disorder
• If the mother is over 35 years old

The following represents some of the ethnic groups which have a greater chance for certain genetic defects:

What is involved in genetic counseling?

When you are working with a genetic counselor there are a number of things you should expect. You should start with your blood relatives on both sides to begin creating a comprehensive background on specific diseases and why they occurred. This is probably the most important piece of evaluating genetic risks.

To help facilitate this evaluation, your healthcare provider will probably ask some of the following questions:

• Do you have a history of diabetes, hypertension, cancer or twins?
• Are there any diseases that seem to run in your family?
• Is there a history of genetic disease like cystic fibrosis, hemophilia, or muscular dystrophy?
• Is there anyone with mental retardation or any kind of birth defect?
• Have any of your sisters, cousins, or other relatives had problems with their pregnancies?
• Are your parents alive, and are they healthy?
• What is your ethnic background?
• Is there any reason that you suspect that your baby may be born with a birth defect or other medical problem?

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