Is genetic carrier screening prior to starting an ivf cycle necessary? I tested and found some disorders. Now my RE won’t start my cycle until my partner is tested. They are saying they will have to do special PGT tests if we are carriers of the same disorder. I am confused. I thought this type of testing was optional and usually recommended if you are using a donor. My guess is that they are booked and pushing me to the Jan cycle. Thoughts?

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Yes it’s necessary for both the male and female prior to initiating an IVF cycle. You need the results first because of you both are carriers of the same genetic disease, you need arrange PGT-M testing of that specific disease, which they would do by biopsy of a few cells of your blastocyst. This involves a consultation with genetic counselor.

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Yes, you can opt in or out collectively up front, but once you have decided to be tested, you're committed to having your partner tested

I came back as a carrier for something and went through the same process. The results came back in one week

Unfortunately there are endless delays and set backs in this journey, most likely it's not due to them giving you the run around, (although it doesn't make the wait / frustration any better)

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Was frustrated about the lack of communication from the RE team that lead to the delay. I understand this is a long journey and reminders to not fester the frustration help. I am grateful I have this option and just trying to be better informed so I can problem solve without losing time.

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I totally get the frustration with delays and communication. I honestly feel REs intentionally do not tell you what will / can occur in every step up front because it would be stressful information overload. That being said, it makes it frustrating when you get to that point.

Other potential delays I didn't know up front: additional tests needed at specific points in your cycle, covid test comes back positive, (I had 4 tests throughout IVF), lining check isn't thick enough, levels aren't where they should be, embryo genetic testing results taking longer, etc. etc.

What helped us is celebrating each small hurdle and trying to not look too far ahead, take it day by day and continue to ask questions! Definitely have to be your own advocate!

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OP, this is all totally normal and is designed to prevent you from transferring an embryo with a devastating genetic disease that could have been identified in advance. If you and your husband are both carriers for a disease, you have a chance of passing that disease on to the embryo. In order to test an embryo for a specific disease (vs just general PGT aneuploid testing), they may need to create a bespoke test, which all needs to be done before you actually produce the embryo. Once the embryo gets to day 5, it can’t be ‘paused’ - it’s biopsied and frozen and that fresh biopsy sample needs to be sent out immediately, so any bespoke test needs to be ready. As the poster above said, there is huge risk to the embryos to thaw and pull a new sample, so every clinic would 100% advise you to wait on IVF until you know whether you need one of these tests based on carrier screening. I know it feels frustrating and like a lot of stop and go - we all have felt this too. The experience takes a lot of patience that none of us have in our situations. Be prepared for this to be among the many painful waiting periods - all on the road to an eventual happy ending. And trust your doctors here - that’s the only thing you can do.

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I think it depends on the RE office, we checked a box waving any carrier testing.

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I definitely don’t think they’re giving you the run around as other have said. I would also share that while the delay is painful and unexpected - the extra steps may help you prevent a lot of future pain (i.e., doing IVF with non-viable embryos, miscarriage bc of the condition, having child with that genetic condition, etc.). It will reduce the what ifs in the next phase if it didn’t work and you have to think - what if it’s bc of those conditions (for instance). This will hopefully give you peace of mind there’s no overlap in recessive genes OR arm you with the next steps to prevent carrying a child with that condition.

I hear you though, we’ve waited so long to get here, so one more delay can really stink.

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Thank you all for getting deep into how this works, definitely helps me understand more. I appreciate the kind words and encouragement!! Wishing you all the very best.

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I tried to check with the clinic if we can move forward, fertilize & freeze embryos and hold off on the transfer while waiting on carrier screening results and they came back saying they needed the results before starting the cycle. I understand needing the results to test the embryo but confused why we can’t start and wait for transfer. They are saying the special test might require months to develop ( if we both are carriers of the same disorder).

Your response is harsh, misguided and lacks context on my situation. Wish you luck in your journey.

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