Natera results are in, WWTTCALD? (loss mentioned)

alleycat39 · July 2014

First, sorry for being such an AW lately with my posts. Having a real rough time with this last loss and figuring out where to go from here.

My RE called today with the Natera testing results: Trisomy 22. In one breath I am happy to have an answer, while in another I'm in hysterics thinking of my little baby with this life threatening disorder, though nature took its course. My RE doesn't believe we need to do any more testing (AMH, insulin resistance, NK cells, etc etc- things beyond basic RPL) since we have an answer for this loss. When I asked if there was a chance that this is the causes of our other losses, he didn't seem to think so. Just a "fluke". He thinks moving forward we do things as normal; Femara, timed intercourse, and progesterone.

I can't help but think though that we need to look further into this, if there even is any way to do so. Each of our pregnancies has grown to exactly the measurement of 6w2d, however grew into what was my 7th or 8th week, just grew really slowly. It makes me wonder if the other 2 losses were the same reason (1st loss wasn't tested and 2nd loss came back 46XX which is inconclusive since it could have been maternal cells). I'm torn on if I need to get a second opinion. WWTTCALD? Does anyone know much about Trisomy 22 repeating itself?

PS- Karyotyping on both DH and I came back normal after our 2nd loss

meredithcarole · July 2014

I am sorry you are having such a rough time. Trisomies, to my knowledge, really are just "flukes" from a statistical point of view, however I think it is possible that they become more likely as you get older. Down Syndrome is, in fact, a trisomy and it is well documented that that becomes more likely as maternal age advances (at the same time, a 20 year old could give birth to a child with Down Syndrome and that would have nothing to do with age, just "bad luck"). One diagnosed trisomy does not mean that your other 2 losses were necessarily trisomies. It is possible there were other issues. You could certainly seek a second opinion if you are having doubts, though. Perhaps that would ease your mind a bit?

RedTwizzlers · July 2014

I'm so sorry, A. ((((Huge hugs)))) to echo @ktlovess‌ , to my knowledge, trisomies are almost always flukes. The only exception I know of offhand is certain cases of T21. And also like KT said, genetic issues causing pregnancy loss should show up on your karyotype. So while I really really understand your frustration, I really do, I'm not sure if there's any other testing or anything else you can do in this case. I know how frustrating it is to be told everything is just a fluke, because I am right there with you. But I guess sometimes it really just is a fluke, which I think the T22 is. I really doubt your other losses were caused by this. ((More hugs))

TVLily · July 2014

I don't have any advice but I'm sending you lots of ((hugs)) and keeping you and YH in my T&P as you obsorb this information.

KMW08 · July 2014

****SIG WARNING****

(((Hugs))) I'm sorry that T22 was found, but I am glad for you that there was a reason (such a double edge sword). I don't know much about trisomies, so I have no advice there.

I agree with other PP's that maybe getting a second opinion with another RE or seeing if you can meet with a genetic counselor for your peace of mind?

More (((hugs))) thinking of you love.

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LilNugget19 · July 2014

I have no advice but wanted to send so many ((Hugs)). I know it's hard to be told it's a fluke as you so want concrete answers for why this happened, I'm sorry you are struggling. You and YH are in my T&Ps.

MrsG80inTN · July 2014

Sending you lots of hugs. I'm with you in the 3 loss camp and it's frustrating not to have some sort of concrete answer. I would say if you feel like you need a second opinion, get one. If it's going to help your heart/head then it's worth it. It may be that they can't tell you any more, that there either isn't a reason for the multiple losses or science just isn't advanced enough to know yet. I'm thinking of you and sending so many hugs.

BookishMomma · July 2014

I agree with PPs who have suggested meeting with a genetics counselor. DH and I were referred to one after our last loss (also our 3rd) came back with a chromosomal abnormality, 45X. Similar to what you were told about T22, we were told by the genetics counselor that it is not likely to reoccur and most likely has nothing to do with our own genetics that we're passing on, since DH and I both had normal karyotypes. That being said, it gave me an opportunity to ask a bunch of questions and gain a better understanding.

My RE told me the same thing it sounds like your doc is saying. He advised us to keep trying on our own, with progesterone after O. (No Femara for us, since I have pretty regular cycles). The overall impression I got both from the RE and from the genetics counselor was that there's no increased need to worry... though that's easy for THEM to say.

edit: clarify

mrsjg2013 · July 2014

Good morning. I understand your feelings- we got results of T21 with our most recent loss. It was an odd feeling because I wanted to know, but then I didn't want to know... you know?

My RE felt that even though this result may be hard to hear, that it actually (from his standpoint) it was a good sign that it wasn't anything "wrong" with me, my body, or a sign that DH or I have something genetically wrong. We're going to see a genetic counselor to consider karyotyping.

My thoughts keep circling around the question- Could I really just have had bad luck three times in a row? What are the chances that three eggs (in a row) were bad, for no explained reason other than bad luck? No coincidence? No medical explanation? The doctor's answers thus far: YES- bad luck x3.

I'm sorry, none of this is very supportive/helpful

Just know that you are not alone in your feelings and frustrations. ((HUGS))

alleycat39 · July 2014

Thank you so much ladies. I'm so sorry that some of you are in this same predicament after multiple losses. It helps to know that I'm not alone in my thought process and questions. I'm going to take all your thoughts and advice into consideration as we decide on our steps moving forward.

I appreciate each and every one of your comments!

Unknown · July 2014

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alleycat39 · July 2014

MrsDeo said:

***Siggy warning***

First of all, ((hugs)) because being in this situation sucks whether you have answers or not.

I just wanted to add that in regards to testing, the other thing you could consider is a carrier screening test (like Counsyl). Karyotyping checks your chromosomes - making sure you have the right number in the right order. Carrier screening looks in more detail at smaller pieces of your chromosomes to see if you have specific gene mutations that would cause certain diseases/disorders. The tests are similar in some ways but look for different things.

A trisomy would be the type of thing that karyotyping would help you figure out if it was passed down or just random, and trisomies usually are just "bad luck". I don't think you have any reason to think you need carrier screening, but when MH and I had it done we found out we're both carriers for a rare disorder that may have caused our losses, although we can't know for sure. For us, a karyotype probably wouldn't have told us anything (assuming we don't also have some chromosomal issues that we don't know about). A genetic counselor would be a good person to talk to about all of that stuff if you want to pursue further genetic testing or just talk to someone more in depth about trisomies and all that.

Also, just because you have an answer for this loss doesn't tell you anything about your prior losses, so if you aren't comfortable with having just this one answer, be open with your RE about that and see what else he can do for you. There are just so many unknowns with mc and loss that it can make it really hard to figure out at what point to stop going down certain paths and when to push harder for something.

More ((hugs)).

Thank you. I am not sure what all Cousyl tests for, however I have had the Expanded Ashkenazi Jewish Panel, which tests for 19 genetic conditions that I am at a higher risk for being a carrier of. Fortunately, I was not a carrier of any of these, so DH did not need to be tested.

Part of me just wants to accept that it was "bad luck" 3 times in a row, but I wouldn't forgive myself if it happens again and we didn't do more testing, as it is constantly on my mind now.

flgrl521 · July 2014

I'm so sorry you are going through this. I also had three losses- first was a CP, second was T13 and third was T16. We did all the tests including karyotype and all came back normal. I was told my losses were flukes since I'm not AMA and everything looked normal. The only slightly "off" thing was my husband's morphology..it was only at 3. We went forward with IVF and PGS and had some surprising results. Out of 15 eggs, only 7 fertilized and only 5 made it to day five. Of those 5 embryos 4 were normal but one had monosomy 21. The genetic counselor said the missing copy of chromosome 21 was from the sperm not the egg. I'm not sure if there is a connection between low morphology and aneuploidy but it felt good to finally get some answers. Huge hugs to you.

MyFirstRaspberry · July 2014

No advice. Sending ((hugs)). I wish the answer was simple for all of us.

alleycat39 · July 2014

flgrl521 said:

I'm so sorry you are going through this. I also had three losses- first was a CP, second was T13 and third was T16. We did all the tests including karyotype and all came back normal. I was told my losses were flukes since I'm not AMA and everything looked normal. The only slightly "off" thing was my husband's morphology..it was only at 3. We went forward with IVF and PGS and had some surprising results. Out of 15 eggs, only 7 fertilized and only 5 made it to day five. Of those 5 embryos 4 were normal but one had monosomy 21. The genetic counselor said the missing copy of chromosome 21 was from the sperm not the egg. I'm not sure if there is a connection between low morphology and aneuploidy but it felt good to finally get some answers. Huge hugs to you.

That is very interesting what you ended up finding through the testing of the embryos. Those kind of stories are what make me want to really have more thorough testing, or at least a second opinion to say no more testing is needed.

flgrl521 · July 2014

I completely understand. After three losses it's hard to hear "it's just a fluke." We got really aggressive with testing.. it helps to know you're doing everything you can.

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