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You Have Your Carrier Screening Results — What Happens Next?

Over the last two posts, we've covered why carrier status matters and what the expanded carrier screening process itself looks like. But one question naturally follows: if you and your partner learn you're both carriers of the same condition, what are your options?

Options for Those At-Risk

If screening shows that you and your partner carry the same genetic condition, there are several paths forward, including:

• IVF with PGT-M (preimplantation genetic testing for monogenic conditions) to screen your embryos for the condition before implantation
• Using a donor egg or sperm
• Prenatal diagnosis to find out if the pregnancy is affected if you are trying to conceive naturally
• Choosing to do nothing and proceeding without further intervention

There's no single "right" answer here; the right option depends entirely on your own family-building goals and preferences, which is exactly why a genetic counsellor reviews your results with you rather than leaving you to interpret a report on your own.

If You're Considering Donor Eggs or Sperm

For patients exploring the donor path, carrier screening plays a role there too. The general process looks like this:

1. Pick a donor
2. Review the donor's report
3. Carrier screening for compatibility is optional
4. Results are available in approximately 3 weeks
5. Review the results together with your care team
6. Ship the donor gametes

This gives you the chance to understand a donor's carrier status alongside your own before moving forward, so you can make an informed decision about compatibility.

Let's Clear Up a Few Myths

Carrier screening is a powerful tool, but it's important to understand its limits. Carrier screening is not:

• A test that will guarantee you'll have a healthy child
• A test that screens for complex conditions such as autism or Alzheimer's
• A test meant to diagnose you with a genetic condition
• A test that gives you information about your own personal health

In other words, carrier screening has a specific, focused purpose: identifying which of the 500+ tested conditions you carry, so you and your partner can understand your reproductive risk together. It's not a general health screen, and it's not a crystal ball; it's one piece of information to help guide your family-building decisions.

Where to Go From Here

Whether you're just starting to think about carrier screening, waiting on results, or trying to figure out next steps after receiving them, you don't have to navigate it alone. PCRM's genetic counselors are available to walk through your specific results, answer questions about your options, and help you understand what any of this means for your unique situation.

Reach out anytime — message the Genetic Counsellors Group through the patient portal, or email [email protected]

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