Many of us—perhaps all of us—have variations in our genes that could cause disease. This is known as being “a carrier.” Being a carrier means you have an increased likelihood of passing on those genetic variations to your children. Sometimes those variations are associated with a disease or condition. Most of the time, being a carrier of one or more variations in your genes does not cause any health problems. There is often no family history of a condition. However, being a carrier for a serious condition like cystic fibrosis, sickle cell anemia, or Tay-Sachs disease means any children you have are at risk of developing a disease that causes significant health complications or may be life-threatening.
Reproductive genetic screening, or carrier screening, is a test that can be done before or during pregnancy to better understand the chances of having a child with one of the tested conditions.
Benefits of reproductive genetic carrier screening
Reproductive genetic carrier screening offers valuable insights into genetic risks, empowering individuals and couples to make informed choices about their family planning. Here are some key benefits of this screening.
Negative result
The chance of being a carrier of the conditions tested for is significantly reduced.
Practical steps
No further action is needed unless there are other risk factors (e.g., family history).
Positive result (carrier)
If both partners are carriers for the same autosomal recessive condition or the female partner is a carrier of an X-linked condition, there’s a 25% chance their child could inherit the condition.¹
Practical steps
Consult a genetic counselor to better understand the results and explore reproductive options such as IVF with genetic testing, donor eggs/sperm, or prenatal testing during pregnancy.
Would you like more details on understanding a specific type of result?
Our specialists will review your results with you, ensuring you understand what they mean and how to use them effectively.
What’s the testing process?
The Blueprint Genetics reproductive genetic screening process is simple and straightforward.
1) Initial consultation
Meet with your doctor (or genetic counselor)
Discuss your medical and family history, and reasons for genetic screening (e.g., pregnancy planning, known risks of inherited conditions).
Choose the right test
You and your doctor will decide which tests are appropriate.
2) Sample collection
Simple and noninvasive process
Provide a biological sample, usually one of the following:
- Blood sample
- Saliva sample
The sample is collected at your doctor’s office, a lab, or even at home (saliva samples only).
3) Laboratory analysis
Behind the scenes
- Your sample is sent to the genetic testing lab (eg, Blueprint Genetics)
- Advanced technologies like next-generation sequencing are used to analyze your DNA to identify genetic variants that cause inherited conditions
4) Waiting for the results
Processing time
- Results typically take 4 weeks
- During this time, your sample is carefully analyzed, and findings are interpreted by genetic experts
5) Receiving your results
Your doctor or genetic counselor will share your results, which include
- Identified genetic variants, if any
- What these findings mean for your health or pregnancies
- Recommendations for next steps
6) Post-test support
Counseling and guidance
If a genetic risk is identified, you’ll discuss implications with your doctor or genetic counselor. This includes a conversation about family planning options and potential treatments.
Emotional support
Many clinics offer psychological support to help you process the information.
Case study #1: Anna (34) and Mark (36), no known family history*
Anna and Mark are planning to start a family. They are both healthy, and neither of them has a known family history of genetic conditions; however, they would like to learn if they have an increased chance of passing on a genetic condition to their children.
Pre-test discussion
Anna and Mark discuss the benefits and limitations of reproductive carrier screening with their doctor. They understand that every couple has a chance to have a child with a genetic condition, even without a family history. They are aware that carrier screening can identify most, but not all, of the genetic changes that cause autosomal recessive and X-linked recessive conditions in the genes included on the panel and that if they both receive a negative result (no genetic changes found), their chance to have a child with a genetic condition is decreased but not zero. Anna and Mark decide to proceed with carrier screening.
Sample collection
Anna and Mark provide blood samples. These are sent to the laboratory, where they are screened for changes in over 300 genes associated with autosomal recessive and X-linked recessive genetic conditions.
Results
Anna and Mark’s results are available to their health care provider approximately 4 weeks later. Anna is a carrier of cystic fibrosis (CF). Mark’s results were negative (no genetic changes identified in any of the genes on the panel, including the gene that causes CF.
Post-test discussion
Anna is a confirmed carrier of CF. Carriers of CF will not develop the condition; however, carriers have an increased chance to have a child with CF if their partner is also a carrier of CF.
Because Mark’s carrier testing results were negative, his chance of being a carrier of CF is low and the chance for Anna and Mark having a child affected with one of the conditions they were screened for, including CF, is low.
Next steps for Anna and Mark
Anna and Mark feel reassured based on their test results. There are no special tests or recommendations for them prior, during, or after pregnancy based on these test results.
*Patient cases are hypothetical.
Why choose Blueprint Genetics?
Choosing Blueprint Genetics for reproductive genetic screening offers peace of mind and empowers you to make informed, proactive decisions for a healthy pregnancy and future for your family.
- Comprehensive screening covering a broad range of conditions and practical insights that help you and your healthcare provider make informed decisions about family planning and reproductive health
- Commitment to high quality standards and advanced technology enables us to test multiple conditions at the same time and deliver accurate results you can trust
- Personalized reporting that’s easy to understand and gives you a clear view of your results and the potential implications
- Ethical, transparent practices, offering clear insights into what is being tested and how your results will be used, so you always know what to expect
Reference
- ACOG. Carrier screening. Reviewed July 2022. Accessed April 27, 2023. https://www.acog.org/womens-health/faqs/carrier-screening. doi:10.1038/gim.2017.134