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 Infertility Suite 101

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