xp: Help me understand chromosome testing

jglandon@hotmail.com · February 2012

Since I can't get on to the TTCAL board, I'll try posting here....

I've had D&C's with all of my losses, and my doctor sent the tissue to pathology for testing. With the first two (still waiting on the results of the third) she says nothing came back abnormal. But then in her next sentence she will say she feels like these losses are due to a chromosomal issue and we just need to keep trying.

So....if it's a chromosome issue, wouldn't that show up as 'abnormal' with pathology?? I'm so confused by this. Maybe I stupidly think she's getting in-depth analysis done when she really isn't?

Obviously I will ask her this stuff at my flup appt., but wondered if anyone here has any insight.

tiffanysbride · February 2012

Yes and no. The chromosome testing if they get everything to grow can tell you the big picture, macro genetic information. So if there is a flip or additional genetic material (that would include Downs, trisomy, etc.) It will not give your micro information, that same is said for adult testing. This is a different test and it is not a common or covered test.

DH and I have had genetic testing on ourselves but only macro b/c the genetic counselor felt that micro would yield inconclusive data. Basically everyone has something at that level so it would not give a definite answer for our losses. Nicholas was tested but his cells did not grow, our little boy at 15 wks did grow and no abnormalities were shown. That doesn't mean something wasn't present or that his organs were ok.

The hardest thing about loss and the science/medical testing is that many times you don't get a final answer just possibilities. It is so hard and frustrating.

swtbelle · February 2012

My testing was done on my blood not on the baby only because my OB was a jerk and didn't feel the need to look into it. I also had a sonohysterogram to look at my uterus where we did find that I have an arcuate uterus. To me the chromosome testing is just one piece of the puzzle but they should explain it to you in a very clear manner so you know what is going on. GL

Manderlin923 · February 2012

My second loss they tested the tissue and found it to be "benign products of conception" basically non-cancerous fetal material. They did not do in-depth testing. Our third loss we had genetic testing done, which took about three or four weeks, and the baby was genetically normal. If I have any more losses, we will again do the full genetic testing.

laoch101 · February 2012

I think she was talking about when the chromosomes divide and go thru mitosis. That is typically, from what I understand why a normal early miscarriage happens. The genetic testing I think looks at if you carry a mutation on a chromosome that would cause a problem such as improper development. And pathology is more a look for/understanding an infection and disease which can cause miscarriages too.

Hope that helps a little but definetly ask for clarification.

VineyardMel · February 2012

laoch101:
I think she was talking about when the chromosomes divide and go thru mitosis. That is typically, from what I understand why a normal early miscarriage happens. The genetic testing I think looks at if you carry a mutation on a chromosome that would cause a problem such as improper development. And pathology is more a look for/understanding an infection and disease which can cause miscarriages too.
Hope that helps a little but definetly ask for clarification.

This isn't necessarily true. Genetic karyotyping (looking at the chromosomal make up) can be done on the baby after a loss to determine if there were chromo issues that likely caused the loss, and it can also be run as a blood test on the parents to see if they have any chromo issues that, either alone or combined, could be causing the developmental issues that lead to loss.

OP--I hope you get the answer you need and that your doctor is running the right tests to get you some answers so you never have to go through this again. I'm so sorry for your losses.

mrs.gee · February 2012

I'm so sorry for your losses. We did chromosomal testing on both of our losses. The first came back "normal", but as my doctor explained it, that just meant it had the correct number of chromosomes. They do not look down at the genetic level to see what other issues there may have been (or at least didn't with the testing done on our embryo). My second loss had an unbalanced translocation, meaning a piece of one chromosome was stuck to another. Some unbalanced translocations are compatible with life; this one was not. This prompted my doctor to do karotype testing on my husband and I to see if either of us had a balanced translocation which could have caused it. Fortunately ours come back normal and it was just a genetic fluke. I hope you get some answers soon. xo.

csquared426 · February 2012

I'm so sorry for your losses.

With my second m/d and D&C, I had testing done, and they found no issues, but all of my docs think my m/c's were due to my DH's chromosomal issue. I think they just do the most common tests, and they miss a lot of other issues. We didn't find out about DH's BT until after my 3rd loss, so I'm assuming that is something they would specifically look for had they known.

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