If you’re thinking about getting pregnant, you may wonder if you should have genetic testing, also called preconception carrier screening. These are tests you can have before conceiving to assess your risk of having a baby with a genetic disorder. Who Needs Screening? You can pass along a gene for certain genetic disorders even if you don’t have the condition yourself. This is called being a carrier. Your doctor or a genetic counselor can help you learn if you might be a carrier for a particular genetic disorder by reviewing your family history. You may want to have genetic testing if you or your partner: Has a genetic disorder Has a child with a genetic disorder Has a family history of a genetic disorder Is of an ethnic group that is at high risk for a certain genetic disorder How Screenings Work To do the screening, your doctor or genetic counselor will take a sample of your saliva or blood and send it to a lab. In most cases, the partner who is at highest risk of having the gene for the disorder is tested first. If that partner is not a carrier, then the other partner doesn’t need to be tested. This is because both parents need to have the gene for a specific disorder for a chance their child will have the disorder. If the first partner does have the gene, then the second partner will also be tested. Types of Screenings Carrier screenings are available for many genetic disorders including: Cystic fibrosis. This condition affects several organs in the body, including the lungs and intestines. It’s most common in Caucasians of Northern European descent and also common in Latinos and American Indians. Fragile X syndrome. This genetic condition causes developmental problems, such as learning disabilities. You may be more likely to carry this gene if you have autism or autism-like behaviors, or if you had an unexplained developmental delay as a child. Sickle cell disease. This condition occurs when the body makes abnormal red blood cells. It’s most common in people descended from Africa, South America, Central America, Caribbean islands, India, Saudi Arabia, and Mediterranean countries. Spinal muscular atrophy (SMA). This genetic disease affects the muscles, causing weakness and paralysis. It is the most common genetic cause of death in infancy. You may want to get tested if there is any history of SMA in your family. Tay-Sachs disease. This rare disease progressively destroys the nerve cells in the spinal cord and brain. It’s most common in Ashkenazi Jews and certain French-Canadian communities. Thalassemias. These are blood disorders most commonly found in people of Mediterranean, Southeast Asian, and African descent. Getting Your Results Your doctor or genetic counselor will review your screening test results with you and explain what they mean. In most cases, if both you and your partner are carriers, your child has a 25% chance of having the disorder, a 50% chance of being a carrier of the disorder, and a 25% chance of not being a carrier of the disorder (and not having the disorder). If only one parent is a carrier, your child has no chance of having the disorder, but has a 50% chance of being a carrier. The chance of passing on the gene for the disorder to your child is the same for each pregnancy. Although these tests are generally accurate, there is still a chance the results could be incorrect. This means your child could be born with a genetic disorder even if both you and your partner have negative test results. Making Decisions If you find out both you and your partner are carriers for a certain genetic disorder, you have options. While there is no cure for most genetic disorders, there are effective ways to manage the symptoms and complications of many conditions. You may decide to move ahead with a pregnancy, or you may choose to use in vitro fertilization (IVF) or opt to use donor eggs or sperm to conceive. Your doctor or genetic counselor can help you decide which option is best for you.