Showing posts with label genetic testing. Show all posts

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Friday, April 27, 2012

I talked to my doctor this morning to try to get some more information regarding the test results. She really didn't have much more to add. I asked her if she thought that a session with the genetic counselor was in order, and she felt that it was not necessary. Based on the fact that both my husband and I are both genetically normal, she feels that the chances of this happening again are not likely. I asked her if she felt that we should test the tissue from my first miscarriage and she did not think that was necessary either. She said she really believes that this is bad luck. I don't know, I have a huge problem with thinking that this is bad luck. I am a part of a group of less than 1% of women in the population that miscarry recurrently. She also told me that this is now an "explained miscarriage". Basically we know the cause of death of the baby, but not the cause for the miscarriage. Honestly, to me this seems like an unexplained miscarriage. We have no idea why a chromosomal abnormality was caused and we have no idea if it (or something like it) will happen again. Sigh.

I moved on from the past to the present and future and told her that I had ovulated last weekend and was now waiting for AF to show next weekend. She was happy with that progress. I asked her a few questions regarding the Femara. I am supposed to take it CD 5-9 and following with regular ovulation tests (and I will chart as well). She suggested calling the nurse next cycle if my period is late (I don't expect that it will be because we aren't TTC next cycle) so that I can come in for a blood test. I will definitely do that for the cycle where we start trying again.

A few hours later the genetic counselor called me back. I had left her a message yesterday asking her if she thought that our particular results of isochromosome 8, in combination with our normal genetic tests, warranted a visit to speak with her. She told me that she would be happy to look over our information on Monday and get back with me shortly after. I think I know that we are NOT going to proceed with further genetic counseling, but I think it would be interesting to hear what she has to say. She was very pleasant to speak with so I figured that I would take her up on her offer to look everything over.

So once again, no answers, only more questions. Happy Friday.

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So now we know

Thursday, April 26, 2012

My RE called me one day early to tell me the results of the tissue test from this last miscarriage. Apparently this one died of a chromosomal abnormality, which I guess I was expecting. Isochromosome 8 to be exact.  My doctor told me that she did not expect this actual chromosomal anomaly to to be a recurrent problem, but the only brief information that I got was left on my voicemail.  I will need to call back tomorrow to get more info.  I did quite a bit of Googling this afternoon and found out a few things, but not as much as I was expecting.



  • An isochromosome is an abnormal chromosome that has two identical arms due to duplication of one and and loss of another.*
  • Isochromosomes are found in tumors and in some girls with Turner syndrome.*
  • Since the chromosomes carry the genetic information which triggers our individual development, errors in the chromosomes generally lead to abnormal development. These abnormalities are often so severe that the baby is incompatible with life. Thus, many chromosomal abnormalities end in miscarriage. Often, this occurs very early in the pregnancy. However, if there is enough fetal material to collect from a miscarriage, a karyotype can be performed to determine if such an abnormality existed. If a karyotype reveals a numerical abnormality, it is most likely random. There is usually no increased risk of miscarriage in successive pregnancies, with the exception of trisomy (which has been linked to maternal age).**

That is literally all that I can find and I have been searching for several hours.  There is very little information on the web about anything other than trisomy 13, 18, & 21.  Even finding any info about a healthy chromosome 8 is difficult, let alone finding info about an abnormal one.  

The RE gave me the number of a genetic counselor and said that if we want to schedule an appointment we can.  I called just to ask a few questions (left a message), but my husband and I decided that we are not going to schedule an appointment.  From what I gather this is not a common occurrence.  

Now we are left wondering if this really was just a freak event of nature.  Unfortunately we are only left with more questions.  Funny how the more info that you get the more questions you have.  I am going to call the insurance company tomorrow to see if they will let my RE test the tissue from our first loss.  I would be very curious to know what happened there, even though I am sure it was also some type of chromosomal abnormality due to the fact that there was a slow heartbeat at one point.  



The saga continues...


*From MedicineNet.com.
**From Infertility Suite 101

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