Screening Tests

Carrier screening

Inherited conditions are genetic conditions that are passed from biological parents to their children. While many families recognize their risk to pass down a genetic condition based on a personal or family history, some genetic conditions are inherited from healthy parents who are “carriers” of the genetic condition.

While it is common to be a carrier of a genetic condition, it is rare for reproductive partners to both be carriers of the same condition. For most conditions, both parents must be carriers of the same genetic condition for their children to be at risk.

Carrier screening is a genetic test that can be performed on a blood or saliva sample. There are many different carrier screening panels available that vary in the number of conditions screened for. Your genetic counselor can help you decide which one is best for you.

Screening for chromosomal conditions, such as Down syndrome

Down syndrome is one of the most common and well-known genetic conditions. Down syndrome and other chromosomal conditions, such as trisomy 18 and trisomy 13, usually happen by chance, and are not typically inherited or present in a family history. For this reason, screening and testing for Down syndrome is offered to all pregnant people regardless of age, personal health, or family history.

Non-invasive prenatal testing: Genetic information (DNA) from a developing baby can be found in the blood of a pregnant person and analyzed to determine the chance the baby has a common chromosome disorder such as, Down syndrome (trisomy 21), Edward’s syndrome (trisomy 18) and Patau syndrome (trisomy 13) as well as certain other genetic conditions. While this test cannot provide as much information or accuracy as diagnostic testing, it is the most accurate non-invasive screen for chromosome conditions. This screening is typically performed any time after 10 weeks of pregnancy through a simple blood draw.