GENETIC COUNSELING

Genetic counseling is used to help couples who are concerned about passing a genetic disorder to their child, or who are concerned about the possibility of having a child born with a birth defect.

Genetic screening is best used when planning a pregnancy, but can also be helpful when a woman is already pregnant. Genetic counselors are trained to take a careful medical and family history. The first step is to find out why a couple is looking for counseling. The counselors will ask you and your partner about any birth defects and diseases that are known to exist in your family. It is important that couples who are worried about birth defects know about their own families past history. Before the scheduled appointment, get as much information as you can about any genetic diseases or disorders that are known in your family.

Today, there are many tests for genetic disorders that can identify a carrier of a disorder. If pregnant, a sample of the after-birth or fluid around the baby can be taken and tested. If one or both parents are found to be carriers of a disorder, the counselor can help determine the risk of this disorder in their child.

Of every 100 children born, 2 to 3 will have a genetic defect. There are three causes:

a baby may inherit one or more abnormal genes from his or her parents, such as in cystic fibrosis or hemophilia
a mutation (or change) may have occurred in the egg or sperm cell, such as in muscular dystrophy or
faulty cell division may have occurred, such as in Down syndrome

Pregnant women should consider genetic counseling:

who are over age 35
who have had a child with an inherited disease or birth defect
who have had a stillborn baby
if they or their partner have a known genetic defect
if someone in their family has an inherited disorder, such as hemophilia, cystic fibrosis, thalassemia, sickle cell anemia, or other disorder
who have been on certain drugs or medications during or prior to pregnancy or
who have been exposed to chemicals known to harm babies

Genetic screening and counseling involves family and personal history of both parents, blood tests of the mother, ultrasound scans of the baby, chorionic villus sampling of the placenta tissue, and amniocentesis. Your healthcare provider will discuss the screening results with you. If there is a problem, you may be referred to a genetic counselor to help you understand the problem and the choices available to you.

Genetic counseling will provide you with objective information without any personal opinions of the counselor. You and your partner can then make your decisions based on your own values, ethics, and desires. Thinking carefully about your beliefs and goals will help prepare you to make choices that are best for you and your family. It is very important to discuss your choices and options before you find out any test results. The time between a test and the results may be several weeks. This time can be used to prepare a plan of action with the support of family and caregivers.

Not all health plans cover the cost of genetic counseling. Be sure to check with your health plan. For support and information, contact the Genetic Alliance at (800) 336-4363 or visit their website at www.geneticalliance.org. Another resource is the March of Dimes. For questions, call (888) 663-4637 or visit their website at www.modimes.org.

Disclaimer: This content is reviewed periodically and is subject to change as new health information becomes available. The information provided is intended to be informative and educational and is not a replacement for professional medical evaluation, advice, diagnosis or treatment by a healthcare professional.

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