This information sheet describes some of these conditions. Each disorder is described only briefly. If you would like more information about a disorder or its treatment, please ask to be referred for genetic counseling. All of these conditions are transmitted in autosomal recessive fashion. This means that a couple can only have a child with the disorder if both parents are carriers of the trait for that disorder.
Carriers usually have no symptoms of the condition.
Carrier tests are performed on blood samples. If both parents carry a trait for the same condition, during pregnancy their fetus can be tested for the disease by sampling the placenta or the amniotic fluid. Carrier tests cannot entirely eliminate the possibility of being a carrier, but a negative test makes the chance very low. If you are interested in carrier testing, call 773.702.6621 to make a genetic counseling appointment to discuss the most appropriate testing, the accuracy of test results, the laboratory that does the testing, and the cost. Check with your doctor first as you may have had carrier screening already.