genetic testing « Back to Group Discussions

[Shiloh]

This was brought up in our weekly thread. I thought it might need its own space as many of us are "older".

We are going for genetic counselling.
I will get the blood screen/us done and anatomy scan. Amnio scares me as I could miscarry a healthy baby. I might do maternit21 but I would like to know but I'm not sure I'd want to know 100% as I'm prolife and I'd hate the pressure or comments I "chose" a disabled baby.

[revolting]

I won't opt for genetic screening. I'm 100% pro-choice, but I would definitely choose to continue a pregnancy knowing the baby would be born with a disability. I just have no desire to know, but if I did, I would not disclose that we chose testing to people who I thought would criticize my choice.

[Shiloh]

True. I'm prochoice for everyone else. I like the fact I do have choices. But if I have a choice I'm prolife. And I pray I never have to choose.

[HappiLeigh]

I'm "advanced maternal age" but I declined all testing. I just don't want to know. I'd rather just go along and believe everything is fine and deal with it later if it turns out that it's not. I live in a big city with lots of hospitals and social services, so I don't honestly know that there would be any benefit to my finding out about a potential problem in advance (I guess except for the possibility if terminating, I guess, which I'm not politically opposed to but would prefer not to have to grapple with on a more personal level--hence ignorance is bliss).

[Serafina33]

Here they do the blood/ultrasound checks for everyone unless you specifically say you do not want them, not just for those who are older.  I'm assuming there is a routine for extra screenings for women over 35, but I don't really know for sure.  

I have given the blood and I'm getting the ultrasound in less than five days and I'm hoping the results are expediently delivered to me so that if I wanted to consider terminating the pregnancy, I could do so within the first trimester.  Obviously, the sooner the better.  I'm not certain what my cut-off point would be for termination, but can't imagine considering it at much further than the point I'm at now (10 weeks + 1 day) in this pregnancy.  So, that window is nearly shut for me, and if there are answers to be had, I want them fast or not at all.  

[aloya]

Due to advanced maternal age (I'm 37 now, was 36 at the time in question) I chose to have the NT scan with my last (before this one) pregnancy, and I was totally unprepared for having an abnormal result come back. With my son, I did the NT and the quad screen and everything was perfect--not so with pregnancy number 2. The neck measurement was *way* off. It turned out that there was a problem with the heart--that it could not sustain Junebaby's needs (my in utero name). But we had no idea at the time, and so we were placed in an amnio and worst-case-scenario head spin that I hope none of you ever have to go through. I swear I could have wrote a thesis about percentages and statistics based on how many scientific studies I read to convince myself that things could have been normal. They could have: amnio came back normal--as I said, it was the heart--but I have firmly come to believe that women need to know that choosing to continue a pregnancy or stop one, in such a heart-breaking situation (abnormality), can be equally compassionate. 

After I miscarried (at 16 weeks), having had the testing and having reflected on what it might mean really helped me to understand what happened and come to peace with it. So, I was glad that we did the NT test, and the amnio. I'll definitely be testing this time, too. And I'll breathe easily only after that date...

[Serafina33]

I got my initial screening results and my risk of Down's or other trisomy problems is 1 in 260,000 which to me is a huge relief.  That's a miniscule enough of a risk that I can let it go and enjoy the pregnancy.

[Shiloh]

I recently read that cvs and amnio still have false positive rates of 5%, and 1%.
The csv risk for a mc is 1%, amnio .5%.
My chance for a baby with an issue is 1%.
I hate stats.

[aloya]

Tell me about it, Shiloh. It took me hours to wrap my head around NT stats: MoM (multiple of the median) and all that. The thing is, though, you won't have to worry about amnio unless you have some very specific pointers, plus, when I actually had mine done by a very experienced doctor, the nurse told me that his rate was less than .01%, so it does depend on skill.. And hopefully, like Serafina (hooray!), you'll get enough info from tests (if you decide to do them, that is) to give you confidence. Serafina, how far along are you? Is this already the 11+ week scan we're talking about? Or did you just have the blood work done? In any case, I'm glad you're relieved... it must feel good. 

I, on the other hand, am 8 weeks and I haven't been to the doctor yet. I'm not normally nervous, but I would very much like to hear a heart beat when we go in for the first prenatal on Thursday. Especially since I've had no pregnancy symptoms--no morning sickness, no nuthin' (except for sore boobs--but this was exactly how it was with the first two pregnancies, so that itself is not too worrisome). Not only that, but I'm trying to figure out how to schedule a NT test, since I'll be leaving the UK at 11w1d and from then on I'll be in the Netherlands (at least for three months). I don't think you can find a midwife and get booked for an ultrasound in that quick a time, although we'll see, I suppose!

[Serafina33]

Originally Posted by aloya 
 Serafina, how far along are you? Is this already the 11+ week scan we're talking about? Or did you just have the blood work done? In any case, I'm glad you're relieved... it must feel good. 

At the NT measuring ultrasound yesterday they measured me at 11 weeks + 6 days.  So today is 12 weeks.  The bloodwork was done a week ago.  So, the combination points to very very low risk for problems. Yay!

[Mosaic]

I'm not AMA (I turn 34 on Friday!!), and I never would have thought I'd consider genetic testing.

Then our NT/blood test for my second DD was strikingly high, and we declined the cvs but opted for the amnio. Amnio came out good, and DD was born gorgeous and healthy! Then we immediately became mired in feeding issues, growth problems, and developmental delays, and after she turned 2 we opted for additional genetic testing to figure out what the heck was going on. That came back normal as well, so we're struggling through the issues on our own.

So for this pregnancy, we would definitely proceed with the amnio if the first tri screening popped up any red flags; we would NOT pursue the amnio if everything looked normal for my age. Even though we didn't get any answers to our questions, the testing did rule out a lot of possible issues and saved us valuable time chasing potential treatments that were never going to work.

[Shiloh]

I'm a numbers junkie. DP and my OB and midwife are all for testing. The false positive rates for IPS are often over 10% for women of my age. Thus recommending an amnio that would statistically only be a true positive 1-.5% of the time. 40% of those babies wouldn't make it to term. The MC rate can be anywhere from .5% to 3% depending on the study. 5-10% of amnios have to be repeated for contamination so is that .5% loss chance for each needle stick? Babies are sometimes poked. 2% of amnios cause bleeding, fluid leaks 3%, infection,cramping....I hate math. Mind you I got a 9:10 chance of being told to "relax" and that I'd have better averages...
Edited by Shiloh - 4/14/13 at 8:58am

[superbeans]

I wasn't originally planning to have it done as I don't think I would terminate if there were genetic abnormalities. But the Dr said it was standard and that I should have it done. Then I started thinking that maybe I should as I would want to know to prepare myself. So anyways, I scheduled my appt which is next week. I guess they do a blood test and ultrasound. So now that its scheduled I'm getting nervous about it!! Ugh. Its funny because everything I'm nervous about they are all reassuring "Oh don't worry about cord accidents! Don't worry about incompetent cervix!" and then the one thing I wasn't really worried about the Dr is like "Well you never know, you should be tested in case"

[YoginiMomma]

we're not doing any testing. I'm 24 and although my husband is 42, we both don't have any other genetic/hereditary risk factors that would equal anything but a perfectly healthy baby.

[revolting]

Superbeans - Did your doctor give a reason why? My partner has an elevated risk of being a carrier for a genetic disease due to being an eastern European Jew (about 1/4 are a carrier for a serious genetic disease), and my midwife still didn't recommend testing since I'm not Jewish. It seems really weird that your doctor would do it routinely.

[superbeans]

No he didn't say why. He just said that its standard in the US to do the ultrasound/blood test at around 12 weeks to rule it out. Is that not really the standard? Also I'm 27 if that matters.

[HappiLeigh]

Originally Posted by superbeans 

No he didn't say why. He just said that its standard in the US to do the ultrasound/blood test at around 12 weeks to rule it out. Is that not really the standard? Also I'm 27 if that matters.

It depends on the part of the country you are in and the attitude of your care provider. It's common but not universal. The practice I see is very relaxed about it--they just ask if you want it.

[Serafina33]

I live in a western, first-world country that isn't the US, and they (blood/ultrasound) test everyone at 12 weeks to see if anyone pops out as high risk for genetic abnormalities.  And then a measuring ultrasound at 20 weeks. Everyone.

[Sphinxy]

An anecdotal thought in favor of genetic testing. I think it often gets framed in the context of whether or not someone would choose to terminate a pregnancy, and lots of women choose not to test because the know they wouldn't terminate either way. But it really doesn't have to be about that.

My niece has special needs, similar to but not actually Down's. I don't know if there was a genetic test available for it, but either way my in-laws did not know ahead of time that she had this. I think they wish they had known, because they could have prepared themselves in advance and enjoyed the birth more. Instead, a doctor noticed a signature trait of this disability right after she was born, and rather than really getting to relish the experience of birth, my niece was immediately whisked off for testing and the parents were worried and confused. If they had known in advance they could have prepared themselves, worked to accept it, and then just snuggled their new baby once she arrived.

Everyone has to make the best decision for them, but I just wanted to share this experience.

ETA: It's also more than just preparing yourself emotionally. It gives you time before baby is here to look into resources that may exist in your area. Because my niece's disability was caught so early she was able to start physical therapy almost immediately. Had that doctor who knew to look for that specific trait not been present at the birth, we'll never know how much longer a diagnosis, and thus treatment, may have been delayed.
Edited by Sphinxy - 4/22/13 at 7:51am