Genetic Testing Before Conception

Reproduction and pregnancy are significant life events that require careful consideration and planning. An important aspect worth thinking about before getting pregnant is carrier screening. This type of prenatal testing is performed before conception and allows expectant parents to gain valuable information about genetic conditions that can be passed to future children. Genetic carrier screening can help individuals make informed decisions about future family planning.


What is carrier screening?

Genetic carrier screening involves examining the genes of both prospective parents to see if any specific genetic problems can be passed on to potential children. When the test is performed before pregnancy, carrier screening can identify carriers of common recessive conditions, enabling early intervention to prevent disease occurrence in future offspring. With the results of carrier testing available, prospective parents can make informed decisions about family planning. Some may seek reproductive options such as in vitro fertilization (IVF) to minimize the risk of passing on harmful genetic conditions to a future child.

Your genetic screening options

Doctors may present different genetic carrier screening options based on the couple’s needs. Common examples include single-condition screening, 3-condition screening, and expanded carrier screening. Single-condition screening focuses on testing for a specific genetic condition that individuals may be at risk for due to ethnic background, family history, or other factors. As the name suggests, 3-condition screening expands the scope to include testing for 3 specific genetic conditions. Expanded carrier screening, on the other hand, is a more comprehensive and inclusive approach. This option tests for multiple genetic conditions simultaneously. Expanded screening allows for a more comprehensive assessment of potential risks and gives individuals a broader picture of carrier status for various genetic conditions.

How is the test performed?

Genetic carrier screening is typically performed with a simple blood or saliva test. During the test, a blood or saliva sample is collected from the individual or couple undergoing screening. The sample is then sent to a laboratory to analyze specific genetic variations or mutations associated with various genetic conditions. The laboratory will compare the individual's or couple's deoxyribonucleic acid (DNA) with known genetic variations associated with the conditions being screened. If any variations or mutations are detected, the individual or couple will be informed of carrier status for those conditions. The patients may then consult with a genetic counselor or healthcare provider to discuss the implications of the carrier status and explore reproductive options if desired.

Who should consider carrier testing?

Genetic carrier testing can be considered by any individual or couple who plans to have children. Testing is especially recommended for individuals or couples who have a family history of known genetic disorders. People from populations with a higher prevalence of certain genetic conditions should also consider screening. Additionally, genetic carrier testing may benefit individuals or couples who want to assess future risk and have a comprehensive understanding of carrier status for various genetic conditions.

A healthier pregnancy with testing

Although most people assume that prenatal testing only takes place after a pregnancy has occurred, there are many benefits to pre-conception genetic carrier screening. Empowered with genetic results, individuals and couples can make an informed decision about how to proceed with a future pregnancy. To better understand the benefits, limitations, and implications of genetic carrier testing, consult with a healthcare provider or genetic counselor.