All of our genes come in pairs. We get a copy from each parent. Genes determine how we grow and function. They help control everything from our eye colour to whether we get certain conditions. Genes that do not work right or that are missing can cause genetic conditions. These include cystic fibrosis, sickle cell anemia, and Tay-Sachs disease.
You can be a carrier of a genetic condition and not have symptoms. Instead, you "carry" one copy of a gene that is not working well. If someone in your family has one of these conditions, you may be a carrier. But many people who are carriers have no family history. If both members of a couple are carriers, they have a 1-in-4 chance of having a child born with the condition. So that means that there is a 3-in-4 chance that their child won't have the condition.
To have certain genetic conditions, a baby must get a copy of the faulty gene from each parent. You can have a blood test to find out if you are a carrier. The results of this test can help you make choices about having children. If you test positive, your partner should be tested too. If you and your partner are both carriers, you are more likely to pass a genetic disease to your children.
Follow-up care is a key part of your treatment and safety. Be sure to make and go to all appointments, and call your doctor or nurse call line if you are having problems. It's also a good idea to know your test results and keep a list of the medicines you take.
You can be tested to see if you or your partner might pass down gene changes to your child. You may be tested for:
People who are Caucasian or of African, Ashkenazi Jewish, Southeast Asian, French-Canadian, or Mediterranean background may want to think about testing. People in these ethnic groups are more likely to have children with certain genetic conditions. Some close-knit religious communities also have higher rates of certain genetic conditions. This includes the Amish and the Mennonites.
People with a family history of one of these conditions also may want to think about testing.
Go to https://www.healthwise.net/patientEd
Enter Q084 in the search box to learn more about "Ethnicity-Based Genetic Screening: Care Instructions".
Current as of: October 9, 2017
Adam Husney, MD - Family Medicine
& Martin J. Gabica, MD - Family Medicine & Siobhan M. Dolan, MD, MPH - Reproductive Genetics
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