Thursday, February 18, 2016

Genetic Carrier Screening - Worth It?

One of the questions our RE asked us on our first appointment was whether we wanted to do a genetic screening test. He said some people feel strongly that they want it done, whereas others opt out. At that time we chose to opt out, but decided we would have the testing done if we were thinking of moving forward to IVF. Well that time has come.


Even though we still have one more IUI to do (for a grand total of 6!), we wanted to prepare in case it doesn't work out. And let's face it... we've had 5 IUIs so far, and only got a positive beta on one of them, which ended in an early loss... so we aren't getting our hopes up super high that the last IUI will work. If it does, we will be over the moon! And it would be an amazing surprise. But I would rather get used to the idea of it not working and be in disbelief if it does, than getting my hopes up so high and to be crushed if it's a BFN.

Our first step in the "prep for IVF" process is the genetic carrier screening. Previously, our RE's office used the Counsyl screening test, but just recently switched to the Recombine CarrierMap screening test because the cost was lower for patients. The CarrierMap test also tests for more genetic conditions than the Counsyl test does. Carriermap tests for over 250, while Counsyl tests for over 100. So cheaper and tests for more things? Sign me up! I want to get my money's worth.

Speaking of money, I was absolutely thrilled when I heard back from the billing department of Recombine. It turns out, my price for the test is only $95! That's significantly cheaper than the price I had gotten from my RE's office for Counsyl testing.

So why did we change our mind about the testing? Originally we were hoping that it was only a mild sperm issue. Both doctors we saw thought an IUI would easily fix the problem. But going on 6 IUIs now, and no lasting pregnancy. IVF is expensive and we don't want to waste a cycle without having all the information available to us. If it turns out both myself and my husband are carriers of the same genetic issue, we can do PGD testing to ensure our embryos did not get the condition and only healthy embryos will be transferred.

The test itself was really simple. I just had to fill out a short form and had a small vial of blood drawn at our clinic. The blood is overnighted to them by FedEx, in a plastic bag type box.

Results should be ready in 1-2 weeks. If I test positive for any genetic issues, then my husband will be tested for those things as well. As long as both you and your partner are not carriers for the same thing, there is nothing to be concerned about.

So what are some of the benefits of testing?


Reassurance that you aren't a carrier for a major genetic issue. 

If you and your partner are both carrier of the same issue, you can plan for this with your doctor.

Making the right decision ahead of time.

If you are considering embarking on expensive fertility treatments, having the test results can impact your treatment. In some cases, IVF may be the best option for genetic issues because they can test the embryos before transferring them. Going through months of IUI only to find out later, IVF was your best option, can be a difficult thing to deal with.


Can plan ahead for future testing during pregnancy.

If you aren't planning to do IVF but still have a genetic concern, testing can be done early in your pregnancy on your baby to ensure they are healthy. Knowing this ahead of time can help you make the right decisions for your little one.


Knowledge is power.

More information is always better. Even if both you and your husband are carriers of the same thing, there is only a 25% chance your child will be affected. Knowing this will help you to make informed decisions down the road.

Peace of mind.

For me, just knowing we did all the testing available to us is a comfort. There comes a point when you've done all you can. I like not leaving any stone unturned.


I'll do another update when I get my results. Fingers crossed it comes back with no issues!

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