Talk to me - Chromosone Abnormality

[vmars]

Labcorp just posted some of my bloodwork (the rest will be posted at 7pm). My doctor's office is closed so I have to wait to speak to them. It says for my chromosome results -- "INTERPRETATION: PERICENTRIC INVERSION CARRIER"....

" GTG banded chromosome analysis revealed a female karyotype with an

apparently balanced pericentric inversion of chromosome 11.
Pericentric inversion carriers are predisposed to unbalanced
meiotic recombination that can result in miscarriages or abnormal
liveborn children. The risk of unbalanced gametes increases
proportionally to the genomic distance between the breaksites (higher
risk with this inversion).

Reduced fertility may also be experienced, more commonly in

male carriers. The children of clinically normal balanced inversion
carriers have a 50% chance of inheriting the balanced inversion and
its associated reproductive risks. Genetic counseling and familial

chromosome studies are recommended."

what does this mean? Anyone experience this before? DH's chromosome results are normal.

[landmermaid]

I have not experienced this, and wish I could offer insight, but I wanted to send big hugs your way. I hope you get to speak with your doctor's office first thing so they can clarify your results.

[pickel]

I didn’t want to read and not post. I don’t have anything helpful to add, just some ((Hugs)) and I hope you’re able to get some answers soon.

[Jalapeñomel]

I have no idea, but it’s really cruel for them to post your results before the doc can speak to you about it.


(((Hugs)))

[aprilsails]

I also have no idea but hope you can get some clarification soon. Big hugs and best wishes to you.

[seeyalater52]

I don’t know a lot about chromosomal abnormalities but my layperson’s understanding is that this could be a key factor in your loss history. When a chromosomal issue is detected they can do PGD testing (different from PGS testing) on embryos during IVF to identify which embryos are affected by the abnormality.

I hope conversations with your doctor and a genetic counselor help to clarify things!

I can’t recall if you are seeing an RE or an OBGYN but a conversation with an RE and a genetic counselor would be good next steps, I wouldnt necessarily trust a non-specialist to be able to provide the most helpful info.

[shoeless]

I have a chromosome abnormality that resulted in us needing to use donor eggs since it caused premature menopause. That said, I think seeyater is correct that an RE would probably recommend IVF with PGS testing to find unaffected embryos.
I’m hoping you’re able to talk to a genetic counselor quickly.

[shoeless]

I should also add that I was devastated about my diagnosis for months maybe a year. I couldn’t decide on a path forward. After you get all the information give yourself some grace and time to process everything.

[FishChicks]

I also have a pericentric inversion. Mine is on my 9th chromosome with breakpoints at p11, q13, if I recall correctly. That specific inversion is the most common to have, with about one percent of the human race estimated to have it. Despite my history of 6 miscarriages, the advice of the genetic counselor, my RE, and Dr. Schoolcraft of CCRM was that it was not clinically significant.

The counselor told me that the impact does vary based upon the specific inversion, but reproductively speaking, inversions don't trigger the same miscarriage risk that translocations do. I'd strongly suggest meeting with a very experienced genetic counselor to talk about your specific results.

On a less technical note, I was just emotionally gutted when I first got the lab results back, after 3 MC and thinking I'd never be successful. Give yourself time and space to feel what you feel, and try to be kind to yourself.

[vmars]

Jan 24, 2019 23:09:21 GMT -5 seeyalater52 said:

I don’t know a lot about chromosomal abnormalities but my layperson’s understanding is that this could be a key factor in your loss history. When a chromosomal issue is detected they can do PGD testing (different from PGS testing) on embryos during IVF to identify which embryos are affected by the abnormality.

I hope conversations with your doctor and a genetic counselor help to clarify things!

I can’t recall if you are seeing an RE or an OBGYN but a conversation with an RE and a genetic counselor would be good next steps, I wouldnt necessarily trust a non-specialist to be able to provide the most helpful info.

Do you know if PGD testing is less expensive? I have heard insurance doesn’t cover genetic testing but maybe they would if there is a known chromosomal issue?

[seeyalater52]

Jan 25, 2019 9:45:13 GMT -5 vmars said:

Jan 24, 2019 23:09:21 GMT -5 seeyalater52 said:

I don’t know a lot about chromosomal abnormalities but my layperson’s understanding is that this could be a key factor in your loss history. When a chromosomal issue is detected they can do PGD testing (different from PGS testing) on embryos during IVF to identify which embryos are affected by the abnormality.

I hope conversations with your doctor and a genetic counselor help to clarify things!

I can’t recall if you are seeing an RE or an OBGYN but a conversation with an RE and a genetic counselor would be good next steps, I wouldnt necessarily trust a non-specialist to be able to provide the most helpful info.

Do you know if PGD testing is less expensive? I have heard insurance doesn’t cover genetic testing but maybe they would if there is a known chromosomal issue?

Does your insurance cover infertility/IVF? If so, they may cover PGD testing with a chromosomal issue (mine would have). If they don't cover infertility treatment they likely will not cover it. I don't know much about the cost of PGD, just that it can sometimes take a while to create the probe they use to test the embryos for your individualized issue. Many people bundle PGS and PGD together to identify both if embryos are affected by your chromosomal issue AND if the embryos are otherwise free from chromosomal abnormalities of the randomly-occurring variety and I think it can be more cost effective to bundle them like that but I'm not sure how that compares to the cost of doing PGS alone, and that cost varies a lot by clinic (how much they charge to biopsy the embryos for testing) and what testing lab they use (how much they charge to run tests on the biopsies) and even how many embryos you have. 

When you are ready, I highly recommend posting over at r/infertility on reddit as there are several posters there doing PGD testing or who have chromosomal issues who may be able to help you identify next steps and good questions to ask, or help with a cost estimate. 

I'm sorry you're in this position. You have been through so much already and it must feel so unfair. Take the time you need to process this new reality and don't feel rushed into next steps. 

[vmars]

Jan 25, 2019 9:44:47 GMT -5 FishChicks said:

I also have a pericentric inversion. Mine is on my 9th chromosome with breakpoints at p11, q13, if I recall correctly. That specific inversion is the most common to have, with about one percent of the human race estimated to have it. Despite my history of 6 miscarriages, the advice of the genetic counselor, my RE, and Dr. Schoolcraft of CCRM was that it was not clinically significant.

The counselor told me that the impact does vary based upon the specific inversion, but reproductively speaking, inversions don't trigger the same miscarriage risk that translocations do. I'd strongly suggest meeting with a very experienced genetic counselor to talk about your specific results.

On a less technical note, I was just emotionally gutted when I first got the lab results back, after 3 MC and thinking I'd never be successful. Give yourself time and space to feel what you feel, and try to be kind to yourself.

Were you able to conceive naturally or did you do IVF?

[vmars]

Jan 25, 2019 10:01:28 GMT -5 seeyalater52 said:

Jan 25, 2019 9:45:13 GMT -5 vmars said:

Do you know if PGD testing is less expensive? I have heard insurance doesn’t cover genetic testing but maybe they would if there is a known chromosomal issue?

Does your insurance cover infertility/IVF? If so, they may cover PGD testing with a chromosomal issue (mine would have). If they don't cover infertility treatment they likely will not cover it. I don't know much about the cost of PGD, just that it can sometimes take a while to create the probe they use to test the embryos for your individualized issue. Many people bundle PGS and PGD together to identify both if embryos are affected by your chromosomal issue AND if the embryos are otherwise free from chromosomal abnormalities of the randomly-occurring variety and I think it can be more cost effective to bundle them like that but I'm not sure how that compares to the cost of doing PGS alone, and that cost varies a lot by clinic (how much they charge to biopsy the embryos for testing) and what testing lab they use (how much they charge to run tests on the biopsies) and even how many embryos you have. 

When you are ready, I highly recommend posting over at r/infertility on reddit as there are several posters there doing PGD testing or who have chromosomal issues who may be able to help you identify next steps and good questions to ask, or help with a cost estimate. 

I'm sorry you're in this position. You have been through so much already and it must feel so unfair. Take the time you need to process this new reality and don't feel rushed into next steps. 

I am fairly certain my insurance will cover IVF. I have very good insurance, but I will have to inquire.

[icedcoffee]

I don't know anything about it, but I'm really sorry for the news and I hope your doctor can provide some reassurance that you'll have success with conceiving.

[stellelinds25]

I have no advice or insight, but just wanted to say I hope you get some answers soon!

[FishChicks]

Jan 25, 2019 10:04:48 GMT -5 vmars said:

Jan 25, 2019 9:44:47 GMT -5 FishChicks said:

I also have a pericentric inversion. Mine is on my 9th chromosome with breakpoints at p11, q13, if I recall correctly. That specific inversion is the most common to have, with about one percent of the human race estimated to have it. Despite my history of 6 miscarriages, the advice of the genetic counselor, my RE, and Dr. Schoolcraft of CCRM was that it was not clinically significant.

The counselor told me that the impact does vary based upon the specific inversion, but reproductively speaking, inversions don't trigger the same miscarriage risk that translocations do. I'd strongly suggest meeting with a very experienced genetic counselor to talk about your specific results.

On a less technical note, I was just emotionally gutted when I first got the lab results back, after 3 MC and thinking I'd never be successful. Give yourself time and space to feel what you feel, and try to be kind to yourself.

Were you able to conceive naturally or did you do IVF?

*TW/loss and pregnancy *

I also have Asherman's syndrome and DOR, so we did OI/TI with injections and estrace to get my lining thick enough. Our first round resulted in genetically healthy twin girls (baby B shared my pericentric inversion!), who were lost at 18 weeks due to cervical issues. Our second round was a genetically healthy girl who was lost at 21 weeks for the same reason. Our next three rounds were all CPs and I'm 27 weeks with genetically healthy twins from round six. We baffled my RE, but the inversion didn't seem to have as much of an impact as the Asherman's/lining issues did.

[vmars]

Jan 25, 2019 11:28:45 GMT -5 FishChicks said:

Jan 25, 2019 10:04:48 GMT -5 vmars said:

Were you able to conceive naturally or did you do IVF?

*TW/loss and pregnancy *

I also have Asherman's syndrome and DOR, so we did OI/TI with injections and estrace to get my lining thick enough. Our first round resulted in genetically healthy twin girls (baby B shared my pericentric inversion!), who were lost at 18 weeks due to cervical issues. Our second round was a genetically healthy girl who was lost at 21 weeks for the same reason. Our next three rounds were all CPs and I'm 27 weeks with genetically healthy twins from round six. We baffled my RE, but the inversion didn't seem to have as much of an impact as the Asherman's/lining issues did.

Oh my goodness. I am praying everything continues to go smoothly with your current pregnancy!

[vmars]

I spoke to the OB and they are referring me to a genetic counselor. I had to call around, but spoke to one directly and they are going to call
Me back for an appointment. She said it may end up that I will need to do IVF with genetic testing.

[FishChicks]

Jan 25, 2019 12:18:39 GMT -5 vmars said:

I spoke to the OB and they are referring me to a genetic counselor. I had to call around, but spoke to one directly and they are going to call
Me back for an appointment. She said it may end up that I will need to do IVF with genetic testing.

For whatever it's worth, I found people to be very confused by inversions and to often assume they relate to reproduction the same way translocations do. I did a lot of research when I first got my results and the consensus seemed to be that inversions are much less related to fertility issues than translocations are. Make sure the genetic counselor you see seems clearly aware of the differences! That said, IVF means you don't have to worry about it and if you've got insurance coverage not worrying is a really nice thing!

[Jalapeñomel]

Jan 25, 2019 10:07:08 GMT -5 vmars said:

Jan 25, 2019 10:01:28 GMT -5 seeyalater52 said:

Does your insurance cover infertility/IVF? If so, they may cover PGD testing with a chromosomal issue (mine would have). If they don't cover infertility treatment they likely will not cover it. I don't know much about the cost of PGD, just that it can sometimes take a while to create the probe they use to test the embryos for your individualized issue. Many people bundle PGS and PGD together to identify both if embryos are affected by your chromosomal issue AND if the embryos are otherwise free from chromosomal abnormalities of the randomly-occurring variety and I think it can be more cost effective to bundle them like that but I'm not sure how that compares to the cost of doing PGS alone, and that cost varies a lot by clinic (how much they charge to biopsy the embryos for testing) and what testing lab they use (how much they charge to run tests on the biopsies) and even how many embryos you have. 

When you are ready, I highly recommend posting over at r/infertility on reddit as there are several posters there doing PGD testing or who have chromosomal issues who may be able to help you identify next steps and good questions to ask, or help with a cost estimate. 

I'm sorry you're in this position. You have been through so much already and it must feel so unfair. Take the time you need to process this new reality and don't feel rushed into next steps. 

I am fairly certain my insurance will cover IVF. I have very good insurance, but I will have to inquire.

I have IVF coverage, but testing was not covered even for known issues. I hope this is not the case for your coverage.

[seeyalater52]

Jan 25, 2019 14:38:05 GMT -5 Jalapeñomel said:

Jan 25, 2019 10:07:08 GMT -5 vmars said:

I am fairly certain my insurance will cover IVF. I have very good insurance, but I will have to inquire.

I have IVF coverage, but testing was not covered even for known issues. I hope this is not the case for your coverage.

It is unfortunately the case for many people even who have coverage. I’m in a mandate state and my plan does cover PGD testing but I know of many that don’t, even when they otherwise offer excellent coverage for infertility and IVF.

[vmars]

I spoke directly to geneticist when making my apt. She’s seeing me Tuesday am. She seemed really nice.

[loira]

Jan 25, 2019 11:28:45 GMT -5 FishChicks said:

Jan 25, 2019 10:04:48 GMT -5 vmars said:

Were you able to conceive naturally or did you do IVF?

*TW/loss and pregnancy *

I also have Asherman's syndrome and DOR, so we did OI/TI with injections and estrace to get my lining thick enough. Our first round resulted in genetically healthy twin girls (baby B shared my pericentric inversion!), who were lost at 18 weeks due to cervical issues. Our second round was a genetically healthy girl who was lost at 21 weeks for the same reason. Our next three rounds were all CPs and I'm 27 weeks with genetically healthy twins from round six. We baffled my RE, but the inversion didn't seem to have as much of an impact as the Asherman's/lining issues did.

I didn't know you were already 27 weeks already! Congrats on passing viability! I have everything crossed for you.

[Jalapeñomel]

Jan 25, 2019 15:00:19 GMT -5 seeyalater52 said:

Jan 25, 2019 14:38:05 GMT -5 Jalapeñomel said:

I have IVF coverage, but testing was not covered even for known issues. I hope this is not the case for your coverage.

It is unfortunately the case for many people even who have coverage. I’m in a mandate state and my plan does cover PGD testing but I know of many that don’t, even when they otherwise offer excellent coverage for infertility and IVF.

I don’t get why mandate states don’t cover ALL the parts of IVF. If you’re going to cover a part of it, just cover the whole damn thing. Looks like NY might be upping the coverages in the upcoming years though.

[vmars]

Jan 25, 2019 20:32:10 GMT -5 Jalapeñomel said:

Jan 25, 2019 15:00:19 GMT -5 seeyalater52 said:

It is unfortunately the case for many people even who have coverage. I’m in a mandate state and my plan does cover PGD testing but I know of many that don’t, even when they otherwise offer excellent coverage for infertility and IVF.

I don’t get why mandate states don’t cover ALL the parts of IVF. If you’re going to cover a part of it, just cover the whole damn thing. Looks like NY might be upping the coverages in the upcoming years though.

My insurance does say it covers IVF but I am not 100% if it applies to my specific set of circumstances. I can’t find anything definitive about the genetic testing just that possibly part of will be covered not all? I mean if I didn’t do the genetic testing IVF would be pointless. I am just going to try and not stress until I hear what the geneticist thinks.

[Jalapeñomel]

Jan 25, 2019 21:36:06 GMT -5 vmars said:

Jan 25, 2019 20:32:10 GMT -5 Jalapeñomel said:

I don’t get why mandate states don’t cover ALL the parts of IVF. If you’re going to cover a part of it, just cover the whole damn thing. Looks like NY might be upping the coverages in the upcoming years though.

My insurance does say it covers IVF but I am not 100% if it applies to my specific set of circumstances. I can’t find anything definitive about the genetic testing just that possibly part of will be covered not all? I mean if I didn’t do the genetic testing IVF would be pointless. I am just going to try and not stress until I hear what the geneticist thinks.

I hope you get some answers.

[G22]

I don't have any knowledge about chromosomal things, but I hope you some solid answers from your doctor soon. ((Hugs))