Pre-Conceptual Genetic Testing


The American College of Obstetrics and Gynecology has recently recommended that all couples of reproductive age who are attempting to conceive be offered pre-conceptual genetic testing. The purpose of this testing is to identify those couples who are carriers of a variety of conditions that could affect their children.

Carriers of genetic diseases do not actually have the disorders themselves. Instead, one of their genes has a mutation; a genetic change associated with the disorder. The concern is that carriers can unknowingly pass this abnormal gene onto their children. Some of the most common genetic disorders including Sickle Cell Anemia, Cystic Fibrosis and Tay Sachs Disease are called “automsomal recessive” diseases. In order to have an autosomal recessive disease, a person needs to have inherited two abnormal genes, one from each parent.

Pre-conceptual genetic testing is not for every couple. However, if you or your partner has a family history of particular conditions or is of certain a ethnic background, pre-conceptual genetic testing may be a good idea. Although whether or not to have pre-conceptual genetic testing is an individual decision for every couple, your OBGYN can help determine your risks for passing on certain diseases to your unborn children. This can help you and your partner to make an informed decision. If you do decide to have the testing, a sample of your blood or saliva is used for testing. Usually, the partner with the greatest risk for carrying a certain disease is tested for the particular genetic mutation associated with that disease. If he or she tests positively for the genetic mutation, the spouse is then tested for that same genetic mutation. If both spouses come up positive for a certain genetic mutation, steps can then be taken to prevent having a child with the associated disease.

For more information about the different genetic tests available and your risks of being a carrier, talk to your OBGYN today.

Posted on behalf of Dr. Carlos Alarcon, Marietta OB-GYN Affiliates, P.A.