Friday, June 8, 2012

Genetic testing...

So when you're pregnant and you have a "normal" OB doctor, you will automatically be offered gentic testing around 18 weeks. It's just basic blood work, and in my case, it would cover down syndrome, trisomy 18, cystic fibrosis, and spina bifida.

We chose to just forego the entire process. For several reasons. The main reason for us is that none of those things would lead us to end a pregnancy. Also, generally, all of those disorders except maybe cystic fibrosis can eventually be detected on an ultrasound anyway. So if the outcome didn't matter to us, we didn't see the point in getting bloodwork done for these tests. (Not that bloodwork is a big deal or a huge inconvenience). Lastly, none of those problems can be treated in utero, so it's not like I could be missing out on the chance to proactively help my baby.

And speaking of the bloodwork... The "testing" is not diagnostic, it simply detects if your baby has an increased risk for any of those things. Like if for your age woman have a 1 in 1500 chance of having a baby with down sydrome, your bloodwork might indicate that your risk is more like 1 in 500. Which is still very low. And at that point you have the option to get an amniocentesis which is where they draw fluid from your womb with genetic material that can diagnose certain syndromes or problems. So if you are the type of person who absolutely needed to know for sure, an amniocentesis would be the next step after irregular bloodwork. The problem with amnios is that they have an associated miscarriage rate of 1-2%. For me, that math doesn't add up. Let's say the bloodwork comes back and your chance of down syndrome is 1 in 400... At that point, the chance that your baby actually has down syndrome is still way less than the chance you might end up terminating your pregnancy.

Had we done bloodwork and had an unfavorable result, I really don't know what I would have done at that point. When it comes to your baby, even knowing there is a 0.5% chance that something is wrong is upsetting. Avoiding everything all together felt like it was the best option for me. I use the same logic in not listening to people's voicemails.

I am not at all discouraging anyone from getting any/all genetic testing available. Most people end up doing the standard bloodwork test, and when my doctor mentioned it, I would say it was said with the assumption that I would have it done. Meaning... it's very routine. However, when I told my doctor we were thinking about not doing testing, he basically admitted that they offer it to everyone just because that's now the norm. And he seemed to fully support or just not care that we weren't going to do it. I mention this because if any of yall were feeling like you didn't want to do it, don't be shy to speak up. You're not being difficult or unusual, and I really doubt your doctor will even care unless something about your medical history raises a red flag.

I think it just depends on your personality or past experience. With Thomas and I, we just felt that knowing there was an issue and not being able to do anything about it would just make the rest of my pregnancy super stressful. For others, not knowing will leave you super stressed.

Do any of yall have any genetic testing experiences that you want to share? I can only offer a very narrow point of view on the process, so I would love to hear if anyone had something to say on the matter!


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