A consultation with a genetic counselor is an important part of the screening process to receive medical clearance for egg donation. During your appointment, the genetic counselor will review your personal and family health history to determine any potential hereditary conditions that could be passed on to a child. She will walk you through your family tree step-by-step, including your parents, siblings, grandparents, aunts, uncles, nieces, nephews, and first cousins.
While it’s important to share any and all family health history you have access to, the genetic counselor will, in particular, be looking for a pattern of any significant medical conditions within the family and issues that impact children, such as learning disabilities, chronic health problems or early death. Per the American Society of Reproductive Medicine’s guidelines for gamete donation, in addition to meeting with a genetic counselor, you will receive genetic testing (performed via a blood or saliva test) to screen for hereditary diseases, such as cystic fibrosis, sickle cell anemia, spinal muscular atrophy, Tay-Sachs, Fragile X, and others.
Based on your family health history, the genetic counselor may recommend additional testing. It is becoming more common for donors to receive expanded genetic carrier screening, which screens for more than 100 diseases, to determine if the donor is a “carrier” for specific gene mutations that could result in a serious health condition being passed on to a child. Your physician and clinic will have set recommendations for genetic carrier screening, but an expanded carrier screening is something we encourage at Egg Donor Solutions to provide intended parents with as much information as possible regarding their child’s family health history and also to provide donors with important information about their own health. As one donor said, “Learning about my body when I did genetic testing was very good information to have so that I am able to better take care of myself.” Following the genetic consultation and carrier screening, you will receive copies of both reports.
The genetic counselor will advise you if there are any implications to consider for your own health or your family’s health. It’s important to note that with expanded genetic carrier screening, the likelihood that you will test positive for one or more genetic mutations is increased. However, this does not mean that you cannot be an egg donor or that there is a significant health concern. The majority of the conditions being screened for are recessive, meaning that it takes a recessive gene from both the egg and sperm source to pass a condition on to a child. For non-X-linked conditions, if you test positive for a recessive genetic mutation, your genetic screening panel will be compared to the intended father’s panel.
What if you are a carrier?
Expanded carrier screening, which tests for more than 100 conditions, is now the standard practice recommended by the American College of Medical Genetics and Genomics. As expanded carrier screening becomes more prevalent, the likelihood that a donor will test positive as a carrier for at least one genetic condition is significantly increased.
If that happens, the first step is to consider the specific condition for which she has been determined to be a carrier. If it’s a serious X-linked condition, such as Fragile X, she would be disqualified as an egg donor for our program due to the probability that the disease could be passed on to a child. It’s important to note that this is a rare circumstance, but it has happened. In the rare event the intended father is determined to be a carrier for the same condition, a child would have a 25% chance of inheriting the disease. If the intended father is not a carrier, then there is not a risk of passing the disease to a child, and you can feel comfortable moving forward.
Final thoughts
When a donor is a genetic carrier, it does not mean that she is unhealthy or that there is an automatic risk of the condition being passed on to a child. Further evaluation is needed and additional testing for the intended father can help put intended parents’ minds at ease about any potential risks to their future child. Ultimately, having a healthy child is what’s most important.
This is also one of the amazing perks about becoming an egg donor, learning about your genetic makeup & advocating for you health. If you have any questions or concerns about genetic screening, please reach out to your Care Coordinator at Egg Donor Solutions. Our team is here to advocate for you and ensure a smooth and successful journey. We are so thankful for you and your role in helping to create a happy family!
We help Intended Parents Create Happy Families via Egg Donation & Surrogacy with the help of caring Egg Donors & Surrogates.
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