Friday, July 5, 2013

Genetic Counseling

Since Tuesday's phone call, I've been trying to wrap my head around the idea of genetic counseling and testing.  Of course one of the first things I did after speaking with my husband is turn to a trusted online support group for help and information.  Luckily, I received some very good responses that helped me to stop assuming only worst-case scenarios (even if only momentarily), so I thought I'd share some of this helpful and wise advice:

  • Seeing a genetic counselor isn't the same as needing genetic testing. It's just talking with someone who knows more about this sort of thing than our OB, and can answer exactly the kinds of questions we have: What exactly was the genetic error in this case? How likely is it to happen again? What are the statistics for it being a random error? Should my husband and I be tested? 
  • My OB might be required to send us to genetic counselor because we did tissue sample analysis of the miscarriage product and came back with a result indicating this abnormality.  (It may not necessarily be because we are in some path for persistent genetic defect.)
  • Seeing a genetic counselor can be a good, reassuring experience because they can put things into perspective. (Seeing one doesn't always have to be a bad thing.)
  • The genetic counselor will have had extensive training both in genetics and probability to really explain what is happening. There is a lot of genetics information on the internet but just enough to get one to the "shoulder of knowledge" where you know enough to scare yourself but not enough to fully understand the situation.
  • Genetic counseling is not something to be afraid of.  Most doctors really do not know very much about genetics and genetic issues, but genetic counselors do!

  • We'll need to decide if the information from the test would be useful to us. If we'd rather not know, or if we wouldn't do anything different based on the test results, then we might not want to get tested. If we would do something different, or if having the knowledge would help us even if we don't change any plans or actions, then we should get the testing done.
  • With a translocation, it could be that the mutation happened in the embryo, or it could be that me or my husband have the mutation as well. Genetic testing can tell us which of those is the case.  If it turns out that neither of us has a translocation, then our odds are pretty much the same as average and we can proceed with future conceptions without a cloud of dread hanging over our heads.
  • If the mutation did come from one of us, then any particular embryo could have about a 50-80% chance of having either too much or not enough genetic material. We'd still have a shot at a healthy pregnancy conceived on our own, but our risk of miscarriage or chromosome problems would be high. So, depending on the results of the genetic testing, we might decide to get IVF with pre-implantation genetic diagnosis, in order to attempt only getting implanted with embryos with good chromosomes. This would reduce any future miscarriage risk (but of course IVF has its own drawbacks).
  • Just because we don't know of any inherited chromosomal abnormalities in our families doesn't mean they don't exist. The only way to know is to test, and knowing means that if we want to do prenatal testing for a future pregnancy we will know what to ask them to look for. (CVS/amnio does not test for "all" issues; only a handful of common ones are routinely tested unless there is reason to ask for specific additional testing.)

Bottom Line:  Step away from the internet searches for now, focus on meeting with a counselor and see what the testing results really say.

I'm still so sad and angry though that this happened in the first place.  Having to meet with the counselor makes it feel even more real when I'm having a hard time accepting what has happened.

I keep trying to remind myself that about 30% of known pregnancies end in miscarriage. While this was our first, it doesn't necessarily mean we won't ever go on to have a healthy baby.  Most miscarriages are due to a chromosomal abnormality and most are never even sent for genetic analysis, so we have information that many couples would not get, or wouldn't get unless they had several miscarriages.  I know I should be grateful for this information and the option to meet with a counselor after our first loss, but actually feeling that way is easier said than done.

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