Genetic testing (PGD) is done to determine if one or both parents may have abnormal genes that may increase the chance that their child will have a specific genetic disease.
If the abnormal gene is passed to the child, the child will usually not be affected with that genetic disease but will also be a carrier for that genetic disease. If both parents are carriers of the abnormal gene for the same genetic disease, there is a 25% chance that their child will inherit one abnormal gene from each parent and be affected with that genetic disease. Genetic screening is typically done on one parent first, and if the first parent tests positive, then the other parent is tested. The American College of Obstetricians and Gynecologists (ACOG) recommends screening for certain genetic diseases when indicated due to ethnicity, family history, or other known risk factors.
There are other genetic diseases which are transmitted directly from parent to child, so that if the parent is determined to have the gene causing that genetic disease, there is a 50% risk of the child being affected by the same genetic disease. Certain genetic diseases that are carried on the sex-determining (X & Y) chromosomes may cause disease primarily in male children but only rarely in female children.
During the course of your evaluation and treatment at CTTBC, our experts may recommend screening for specific genetic disease(s) which may be indicated based on your medical history and/or family history, to determine whether or not you are a carrier for the specified genetic disease(s).
Genetic testing is a valuable tool but there are limitations:
This information is provided for general education purposes and is not intended to take the place of a discussion with your physician. If you have questions about any aspect of your health, you are advised to speak with your physician.