The goal of carrier screening is to identify individuals and couples who are at an increased risk of passing on certain significant inherited conditions to their children. We all carry multiple genetic differences (mutations) that make us unique. Being a carrier typically does not affect your health and often there is no family history of the genetic condition. For most of the conditions tested, both reproductive partners must carry a mutation in the same gene to have a 25% chance of having a child with the disease. However, there are certain conditions where only the mother or father needs to carry the mutation for a child to be at-risk.

Many professional societies recommend carrier screening for individuals considering building a family, but testing is always optional. Approximately half of individuals who undergo expanded carrier screening are found to be a carrier of at least one genetic condition, and about 1 in 22 reproductive partners are found to be carriers of the same condition. Testing before pregnancy will enable couples to make informed decisions when planning their family and/or allow for early diagnosis and care for their children.

Some conditions are more common in certain ethnic groups, but anyone can be a carrier. Therefore, The Fertility Center (TFC) offers universal carrier screening to all of our patients prior to pregnancy. No carrier screen test can detect every carrier of every genetic condition. The conditions screened for typically have early onset, affect quality or length of life, require early or lifelong management, or may have no treatment.

If you have a family history of a specific genetic condition, you should meet with our genetic counselor prior to having carrier screening. This will ensure that your carrier screening test includes the specific mutation associated with the genetic disease in your family and provide you with personalized information.

Most of our carrier screening is ordered through Natera. For more information, please review their informational brochure.

Carrier Screening for Individuals Using Donor Gametes

When considering conception with the assistance of donor gametes (egg or sperm), there are additional considerations to keep in mind when deciding whether or not to pursue genetic carrier screening. Each donor bank screens donors for select genetic disorders, but the number of conditions tested and technology utilized will vary greatly. Therefore, if you are found to be a carrier of a genetic disorder, it may take extra steps to identify a donor who screened negative for the genetic mutation you carry. There is also a chance that a donor will screen positive for a genetic condition that you were not tested for.

Helpful tips throughout the process:

• Complimentary phone consultation with the lab that performed your carrier screening is typically available to understand your results and the impact of choosing a donor who hasn’t had screening versus a donor who has been screened for the disease(s) you carry.
• A donor’s genetic results may be available when you view their profile, or you may need to specifically ask the bank about what genetic testing has been done. Larger banks often have genetic counselors on staff to review this information with you.

Comparison of results and risks, discussion of options, and support in selecting a low risk donor is available through consultation with our genetic counselor.