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Genetic/Chromosomal testing from autopsy of miscarried baby

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Genetic/Chromosomal testing from autopsy of miscarried baby

Postby Emmi E. » Tue Apr 11, 2006 1:18 am

My husband and I just had our 2nd miscarriage and the genetic testing from the autopsy showed:

Trisomy 7
Trisomy 14
BOTH cell lines had an inverted Chromosome 10 (NOT just one)

We have not had our genetic counseling yet b/c insurance doesn't pay for it, but we plan to eventually.

In the meantime, what I can gather through my VERY limited research and understanding is that the two trisomies are random and do not indicate any future problems.

But, my OB was VERY concerned since BOTH cells had the inverted 10. She says this most likely indicates one of us is a carrier.

Does anyone know anything about being a "carrier" of inverted chromosome 10? Are there any case studies about this? I work with special education and the severely mentally retarded...and I was wondering if this means I need to be concerned about this type of thing in future pregnancies.

Sorry if this is the wrong place for this question or if this is just too convoluted of a question.

Em
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Postby Emmi E. » Tue Apr 11, 2006 1:21 am

Uh oh...I just saw there is a "Genetics" section...should I post this there?

Em
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Postby mith » Tue Apr 11, 2006 1:33 am

IMO either section works but you shouldn't post in both. Sorry I can't be more helpful about your situation.
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Enjoying one moment at a time;
Accepting hardships as the pathway to peace;
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Postby Emmi E. » Tue Apr 11, 2006 1:52 am

Sorry...

Just looking for some info...a website...anything...

There's just so much info on chromosomes and genetics out there I guess it's a hopeless cause to find info specific to a carrier of chromosome 10 inversion. I guess I will just have to talk to a specialist.

Em
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Postby LilKim » Tue Apr 11, 2006 3:00 pm

Hey Emmi E.

I've actually worked quite extensively in the cytogenetics field although i'm not a genetic counselor.

My first question for you is ... Was cytogenetic analysis performed on your first fetus? If so, did they see inv. 10? Do you have any other children? Are they ok?

The trisomies are most likely spontaneous. Neither trisomy 14 or 17 is viable, so it is impossible that the fetus inherited that from you or dad. Trisomies just occur at a low frequency ... as a result of non-disjunction. And, i don't think you should worry about that too much. (However, after age 35 .. frequency of trisomies does increase ... so, your OB/GYN should order and amniocentesis)

As far as the inverted 10 ... So, I have to preface this with the fact that i haven't looked this up in any reference books ... But I have a suspicion that this may be the result of a spontaneous duplication (there was only 1 inverted 10 that was duplicated in the cells). Because I think it is EXTREMELY unlikely that BOTH you and your husband both have the same inverted 10 that was passed to your child.

However, that leaves the posibility of one of you having an inverted 10. TRUST ME, THIS IS NOT THE END OF THE WORLD!!!!

All this means is that one of you may have a copy of an inverted 10. And all inversion means is that the genes in chromosome are shuffled (so instead of A-> B->C->D .. you'd have A->C->B->D) The important point is that NONE of the DNA has been lost ... only that the order of genes is different. Thus, +90% of people with inversions are normal ..(because you still have all of the DNA that you need to function normall). And.

So, theoretically if your child were to inherit the "shuffled" chromosome she would still have all of her genes on chromosome 10 .. and she's be normal (just like mom and dad). And that's why I say that it's not the end of the world ..

The major problem with inverted chromosomes is that they have "problems" during meiosis .. and these problems will result in your gametes being unbalanced (missing DNA or having Duplicated DNA from chromosome 10). Thus, upon fertilization of an unbalanced gamete ... the resulting fetus will not be viable (because it doesn't have a total Normal DNA content).

Again, this is not the end of the world ... depending upon what type of "inversion" (paracentric Vs. paricentric) you will still produce normal, inverted and abnormal gametes (having a normal copy of 10, "shuffled/Balanced" inverted 10 and other abnormal version of the inverted 10). THE KEY IS ... as long as you have normal and inverted-balanced gametes... you can still have a normal baby. (because the fetus will STILL have all of the necessar DNA)

anyways...

So, we already know that fertilization can occur for mom and dad. (which is a huge first step)

this is what should happen ...

1.Your genetic counselor will want to determine if either or you are carriers.
2. 5mL of blood will be drawn from Mom and Dad and sent it to a cytogenetics laboratory.
3. The lab will analyze your chromosomes to see if either of you carry the "shuffled" chrom.10 that your fetus had.
4. If one of you has it ... you'll be told of options. (as simple as KEEP TRYING... cuz you will have a HEALTHY ONE based on probability.. OR... they could refer you to a fertility specialist who can use 'science' to help you.)
5. If neither of you have the shuffled 10. The inv. 10 just happened spontaneously in your fetus and (based on probability) will not happen again ... The advice?? HOORAY!!! Keep trying!!!!!! (I hope this is the scenario you end up with!)

I know that this is a tremendously stressful time... but don't be discouraged... the odds are in your favor!

Best wishes!
- KIM

p.s if you have questions.. or if i'm not clear please let me know...
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Postby Emmi E. » Tue Apr 11, 2006 9:59 pm

Hey Kim! I just PM'd you!

But I didn't answer some of your questions above. To answer your questions...

No, testing was not done on the first m/c fetus. Only the 2nd.

No, we don't have any other children, we are trying for our first.

But, I have taken a few very basic genetics courses when I was getting my Master's degree and I will say that my husband does have a history of learning disabilities and relatives with mental retardation. He also has double hair whirls and these abnormal indentations on his lower back. I thought I remembered from my genetic classes that these are physical anomlies (even though they are not obvious to the casual observer). But that class was a long time ago...

From what I have researched the trisomy 7 & trisomy 14 are probably random mutations and won't happen again. But I am really worried about the inverted 10 and what being a carrier might mean for our chances of having healthy children.

Anyway, thank you for your response! Let me know if you any any more info you can provide! It is SOOOOO appreciated!

Emily
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Re: Genetic/Chromosomal testing from autopsy of miscarried baby

Postby hade » Sun Mar 25, 2012 8:47 pm

I hope my post is helpful. I had 3 miscarriages, each one around 14 to 16 weeks. After the 3rd miscarriage, the fetus was tested and no genetic abnormalities found. My fertility OB specialist thought my miscarriages were therefore a random thing. I then became pregnant with my 4th pregnancy and final pregnancy. At 16 weeks, I had an amniocentisis which revealed that the fetus carried an inverted 10 chromosome. Full genetic testing was done on my husband and I. It revealed that my husband was the carrier for the inverted number 10 chromosome. I delivered a baby girl. She is now twenty, and of superior intelligence, except for math abilities. However, she was diagnosed in her early teens with hypothyroidism, ADHD, and now about a month ago with bipolar disorder. Those three diseases are related and an inverted 10 can be responsible. The inverted 10 also caused my fertility issues and the miscarriages. Through extensive geneology research, we have discovered there many others on my husband's side that also had thyroid disease and bipolar disorder. I wish you good luck.
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Postby AstraSequi » Mon Mar 26, 2012 6:01 am

Don't forget that the "inverted 10" of one person is not necessarily the same as in another person. All it means is that somewhere on chromosome 10, there is a sequence of DNA (long or short) that is in reverse order compared to most people.

For example, if one end of the inverted region falls within a gene, then that gene will have been destroyed, and the results would depend on what gene it was (from no effect at all to very serious). Some inversions are more common than others, although they still usually differ by some number of nucleotides on either end.


(I suppose I should also point out that I am not a genetic counselor either. That is not likely to be the case for anyone who responds on the Internet, of course, unless they specifically identify themselves as such.)
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