There's a lot that goes into selecting a donor. Intended parents are often inundated with everything from trying to match certain features and attributes to figuring out family history risks and making sense of genetic testing reports.
In this series, I'm going to break down some of the biggest misconceptions, assumptions, and mistakes I've seen over the many years I've been helping patients navigate the donor selection journey.
So let's dive into it.
If a donor's carrier screening report says "Screen Negative," there are two things you should always check:
How many conditions were included on the panel?
Did the panel actually include the condition that the other reproductive partner is a carrier for?
Just this past week, I met with a couple who felt really good about moving forward with a donor because her carrier screening was "completely normal."
What they didn't realize was that she had only been screened for 12 conditions, and the condition the male partner carries wasn't even included on her panel.
A negative result can only be reassuring for the conditions that were actually tested.
What many people don't realize is that there are multiple laboratories offering carrier screening, and the panels they offer can vary significantly. One provider may order one panel, while another provider orders something entirely different.
For the most part, there's a lot of overlap because most panels include the more common conditions. But when there's a discrepancy between panels, that's where uncertainty—and often anxiety—starts to creep in.
So how do we think through this?
As a genetic counselor, here's the approach I take with my patients.
First, we check whether both partners were actually screened for the condition we're concerned about.
If the answer is yes, great- we move forward using those results, with the understanding that even when results are screen negative, we cannot eliminate all risk since there could still be variants in the gene that we have yet to discover, or perhaps the lab's technology didn't pick up on all the changes.
And in the situation where one partner is a carrier and the other wasn't screened, that's where we start putting the risk into context.
We use the general population carrier frequency for that condition to estimate the chance that the unscreened partner is also a carrier. From there, we can calculate the reproductive risk.
For many people, seeing the actual number is incredibly helpful.
Sometimes they're surprised that the risk is much lower than they imagined.
Other times, the risk feels high enough that they'd rather pursue additional testing or consider another donor.
But either way, they're making a decision based on information; not assumptions.
Next, we talk about the condition itself.
Because risk is only one piece of the puzzle.
Understanding what the condition actually is, how severe it can be, whether there are treatment options, and what life may look like for someone with that condition often helps families determine how comfortable they feel moving forward.
If the donor wasn't originally screened for the condition, it's also worth reaching back out to the donor agency to see whether additional testing is possible.
Sometimes they're willing to arrange it.
Sometimes it isn't feasible.
And sometimes the time it takes simply doesn't fit the family's timeline.
Finally, we discuss whether it makes sense to continue with this donor or consider another one. That decision is incredibly personal and depends on many factors, including timing, cost, availability, and how comfortable the intended parents feel with the remaining uncertainty.
Carrier screening is just one piece of the donor selection process.
In my next post, I'll talk about another important piece of the puzzle: family history and how we evaluate it in a way that actually helps people make decisions.
One thing I tell my patients all the time is that there's so much pressure placed on people choosing a donor. It can feel like it's entirely up to them to find the "perfect" donor.
But the reality is; there is no perfect donor.
Every one of us carries genetic variants. Every family has some medical history. That's simply part of being human.
Most people who conceive without assisted reproduction never ask their partner for a detailed family history or compare carrier screening reports before getting pregnant.
When you're using a donor, though, you have access to information that most people never do. And when so much of the process feels out of your control, it's completely understandable to want to make the very best decision you can with the information you have.
That's where I believe genetic counseling can make all the difference.
Not by helping you find the "perfect" donor; but by helping you understand the information in front of you, put risk into perspective, and move forward with confidence in the decisions you're making.
If you find yourself needing help interpreting donor reports, understanding reproductive risks, or evaluating family history, we'd love to help. It's truly an honor to be part of people's journey to parenthood.