Genetic Testing and Counseling

Those early moments when a couple learns that they are expecting are filled with anticipation, imagination, and dreams. Is it a boy or girl? Will he have the gentle disposition of his mother? Will she inherit her daddy's sparkling green eyes and golden hair? Yet amidst the daydreams, many expectant parents neglect to consider the possibility of their baby inheriting a genetic problem. The hidden realm of genetics can cause fear and anxiety; however, with the help of experienced professionals like genetic counselors, couples will gain an understanding of their situation and receive emotional support dealing with the decisions they may have to face.

In the United States, the risk of a genetic defect is between two and four percent, and it is estimated that most people are carriers of five to seven recessive genetic conditions. Abnormal genes can contribute to genetic prenatal defects or genetic diseases. At times, these defects may also occur from environmental factors such as exposure to harmful toxins in the workplace, or substance abuse, while others can be a combination of the factors.

According to the March of Dimes, a small percentage of couples will learn through prenatal diagnosis that their baby has a birth defect. This prenatal diagnosis sometimes can improve the outlook for the baby, since advances in prenatal therapy now make it possible to treat some birth defects before birth.

Genetic counseling should be seriously considered among couples, both expecting and those who are considering conception, who have unanswered questions or concerns about the origins of diseases or traits among their respective families. This can be unnerving to any expectant parent or those who are planning a pregnancy. However, genetic counseling and trained professionals help these couples identify and understand the traits that they may pass on to their children, as well as their options.

First Steps

Normally during your first prenatal appointment with your physician, you will begin a discussion about genetic traits, testing, and your and your partner's backgrounds or worries. If certain issues and concerns arise during the discussion, your physician will then refer you to a trained genetic counselor experienced in assisting couples in their understanding of inheritance, defects, and risks. Expectant couples can also seek recommendations for genetic counselors through contacting organizations such as the National Society of Genetic Counselors or locating your local community chapter of the March of Dimes.