A Complete Guide to Understanding Your Egg Donor’s Genetic Testing Results

Choosing an egg donor is one of the most meaningful steps in building your family through donor egg IVF. Among the many important factors to consider (like personal background, physical traits, and education), one of the most medically relevant is your egg donor’s genetic testing summary.

Understanding your donor’s genetic profile helps ensure genetic compatibility between the donor and the sperm source, which reduces the chance of passing on inherited conditions. Whether you’re pursuing a frozen or fresh egg donation, interpreting these results can feel overwhelming at first. But with the right guidance, you can make an informed, confident choice.

In this guide, we’ll help you understand:

• What’s included in an egg donor’s genetic testing summary
• The importance of genetic compatibility in egg donation
• How to interpret terms like “carrier,” “variant of uncertain significance,” and more
• What to do if your donor and sperm source aren’t genetically compatible
• How a genetic counselor can support your journey

At Cofertility, we prioritize transparency and genetic safety. For all fresh and frozen matches, we provide a genetic testing summary. However, during a fresh donation, this happens after the match. All of our donors complete the Fulgent Beacon Expanded Carrier Screening panel which tests for 427 conditions. If you have already completed a different panel, follow-up testing may be recommended for you or your donor. Recommendations for additional testing should be discussed with your reproductive endocrinologist and/or a genetic counselor. 

No matter how you go about it, genetic testing is a big deal, and it’s critical that you fully understand the results for both the egg donor and sperm source. Read on so that you can feel fully informed and confident as you move forward through the donation process. 

Why genetic testing matters in donor egg IVF

Genetic testing plays a vital role in identifying recessive and X-linked conditions that may otherwise go unnoticed. Most people are carriers of at least one genetic condition, even without any symptoms. If both the donor and the sperm source are carriers for the same condition, the risk of having a child affected by that condition increases significantly.

Understanding inheritance patterns

Autosomal recessive inheritance: Both biological contributors must be carriers of the same gene mutation for the child to be at risk. If only one is a carrier, the child is usually unaffected.

X-linked inheritance: This type affects conditions linked to genes on the X chromosome. If a donor carries an X-linked condition and the child is biologically male, he may be at risk.

Think of genes like recipe cards. A mutation is like a typo on the card. If both sets of recipe cards (from egg and sperm) have the same typo, the dish — or baby — might turn out differently than expected. 

In some cases, this could also result in an increased risk of miscarriage or pregnancy loss, especially if the condition is severe and incompatible with life. Some affected embryos may fail to implant or stop developing early on. 

Learn more about carrier screening and inheritance here.

How to interpret genetic testing results

Your egg donor’s genetic profile may include one or more of the following:

1. Chromosome analysis (karyotype)

A karyotype looks at the structure and number of chromosomes. It can detect large-scale abnormalities such as translocations, deletions, or extra chromosomes (e.g., Turner syndrome or balanced translocations). These abnormalities can affect fertility or the health of the resulting embryo.

2. Hemoglobin evaluation

This test screens for conditions like sickle cell disease or thalassemia, which are more common in certain ethnic groups. It assesses the type and quantity of hemoglobin in the blood.

3. Carrier screening

The most extensive and detailed part of the genetic testing summary. It examines hundreds of genes associated with recessive and X-linked conditions.

At Cofertility, whenever possible, we utilize the Fulgent Beacon 427 panel, which tests for over 400 clinically relevant genes, including cystic fibrosis, Tay-Sachs disease, and spinal muscular atrophy (SMA).

Interpreting an egg donor’s carrier screening results

Here are some terms that you may find in your donor’s genetic testing summary:

• “Carrier”: The donor carries one mutated copy of a gene for a recessive or X-linked condition but is not affected. This is common and doesn’t automatically disqualify the donor.
  
• “Variant of Uncertain Significance (VUS)”: A genetic variant was found, but it’s unclear whether it causes disease. These are not typically considered a match-breaking finding.
  
• “Reproductive risk”: This refers to the chance that a child could inherit a condition based on both donor and sperm source being carriers of the same gene.
  

One important note: different labs use different naming conventions and may include different genes in their panels. That’s why it’s crucial to match the donor and sperm source panels, or at least confirm both were tested for the same conditions.

Clinics often have preferred testing labs (like Fulgent, Natera, or Sema4). If you or your donor switch clinics mid-process, your new clinic may accept prior testing as long as results cover the same conditions.

What if the egg donor and sperm source are not a genetic match?

Even with rare mutations, this is possible. When it does, there are several options:

• Genetic counseling: Speak with a licensed counselor to understand your risks and whether additional testing is warranted.
  
• Donor re-selection: If the risk is deemed too high, choosing a new donor is always an option.
  
• PGT-M testing: In some cases, preimplantation genetic testing for monogenic disorders (PGT-M) may be used to select embryos free of the condition.

The role of a genetic counselor

A genetic counselor is a trained healthcare professional who can help interpret complex genetic reports and explain inheritance risks in plain language. They’ll also help you coordinate follow-up testing or next steps and support your emotional well-being throughout the process.

In other words? Genetic counselors are a godsend for average patients who want to clearly understand genetic testing summaries. At Cofertility, we encourage all intended parents to connect with a genetic counselor, especially when navigating genetic compatibility throughout the egg donation process.

FAQs about egg donor genetic testing

What if my donor is a carrier?
That’s common, and not necessarily a concern. What matters is whether the sperm source is a carrier for the same condition.

Can I request additional testing for the donor?
Yes. If your clinic or doctor recommends more targeted screening, it can often be arranged through your Cofertility Member Advocate.

Do I need to be tested too?
If you are using your own sperm or a known sperm source, yes. Your clinic may have already tested you. If not, you can request it as part of the match process.

Why are results from different labs hard to compare?
Each lab uses slightly different panels and reporting methods. That’s why matching the same or equivalent panel is essential to properly assess reproductive risk.

Making informed choices with confidence

Your egg donor’s genetic testing summary is a critical tool in making a safe and informed decision about your path to parenthood. With the right information, plus the support of your clinic and genetic counselor, you can interpret your donor’s results confidently and understand how they align with your family-building goals.

Cofertility is here to support you every step of the way. If you have questions about a donor’s genetic testing summary or want to ensure compatibility, reach out to our team. We’ll help guide you through the process with compassion and clarity.