GENETIC SCREENING TESTS

Genetic carrier screening is done to determine if one or both parents may carry abnormal genes that may increase the chance that their child will have a specific genetic disease. For many genetic diseases, if someone has an abnormal gene, that person is considered a carrier for that genetic disease. If this 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 the genetic disease.

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Genetic screening is typically done on one parent first, and if the first parent tests positive, then the other parent is tested.

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The American College of Obstetricians and Gynecologists (ACOG) and the American College of Medical Geneticists (ACMG) recommend routine screening for certain genetic diseases and additional screening when indicated due to ethnicity, family history or other known risk factors. Two of the recommended standard genetic carrier screening tests are Cystic Fibrosis (CF) and Spinal Muscular Atrophy (SMA). There is no one genetic carrier test that detects all genetic diseases and, therefore, genetic carrier tests may only be done for specific genetic diseases and are usually performed on a blood sample. During the course of your evaluation and treatment you may consider 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 that specific genetic disease(s). You may be asked to sign a consent to be tested or a waiver declining testing for CF, SMA and any other genetic screening tests recommended by your physician.