Genetic Screening During Infertility Treatment

The genes babies inherit from the parents pass along family characteristics like hair and eye color. Sometimes they also pass on a genetic disease, even if the parents do not have any symptoms. Each individual has two copies of most genes, one which they receive from their mother and a second which they receive from their father. A “carrier” is an individual who has a defect present on only one copy of a gene but has no complications since the other copy can still function normally. When two “carriers” of a defected gene produce a child, there is a one in four chance that the child will inherit the disease by getting an the abnormal gene from each parent. Genetic screening tests can be performed to determine which members of a population are at increased risk for an inherited condition. The specific genes to test for can be based on the racial or ethnic background of the couple, their family and medical history, and associated conditions.

Various racial and ethnic groups demonstrate an increased prevalence of specific disease since it is more likely that they will carry abnormal genes; for example Sickle Cell Disease is prevalent to those with African-American ancestry. Other racial or ethnic associated diseases include Cystic fibrosis for Caucasians, Thalassemia for those of Greek, Italian, Mediterranean, or southern Asian descent, and Tay Sachs for Easter European Jews and French Canadian descent.

Patients with a family history of specific inherited diseases should have genetic testing for the associated gene abnormalities. However, people who have no family history of genetic disease or don’t know their family history should also be screened for genetic diseases. Therefore, panels of tests have been developed to investigate for multiple genes at one time. Genetic screening is a rapidly advancing field and now requires only a single tube of blood from the patient. Depending on which testing company is used, a patient’s carrier status can be determined for more than 240 genetics diseases. Most of the testing companies also provide genetic counseling services to the patients, where a certified counselor will go over the results of the screen and the probability of their child being affected by any diseases.

If you would like more information on genetic screening or are interested in having the tests performed, please speak with your RMAPA physicians or nurse.