Genetic Testing

clairmeij

Because I will be 35 at the time of delivery, I've had a huge chunk of additional genetic testing options thrown at me.

V and I went back and forth just on the NT testing when we thought that was all that we'd have to consider, and she felt very strongly that it wasn't worth the stress of potential false positives when we knew that regardless of the outcome we would keep and love the baby. My argument at the time was that at least we could be prepared to care for a special needs child, to which she said (rightly), that we could figure that out pretty quickly if it came down to it. From her perspective it just wasn't worth worrying about when we really wouldn't know with any degree of certainty until the child is born. I acquiesced since I didn't have a good argument to counter, and honestly she raised a good point. I am a worrier as it is, and really, why add the potential of false positives to the mix of crazy.

Now, I just don't know. I'd love to hear from other 'Advanced Maternal Age' mothers to hear what you have done, and what your rationale was behind your decisions.

Please and thank you  

JGY

I'm 38, will be 39 when I deliver, and opted into all the initial rounds of testing.  We decided to have them done for a few reasons ... we are both people that like to be prepared, know what we're dealing with, etc.  But we also felt like in the very faint chance that there was something really scary going on, we would want the medical professionals to be prepared as well.  In addition, we want the birth of our child to be a purely joyous occasion.  We wouldn't want to have any surprises that would diminish that feeling.  Having information about genetic conditions (and there are tests that can get you really close to, if not complete, 100% confirmation) ahead of time would allow us to get myself there no matter what the health complications might be because we would be in the know going in. 

I had the first trimester screening done, blood work along with the NT scan.  I had the blood testing for spina bifida and a few other things done as well.  Because all tests came back with good results for us, we didn't have to move on to any more difficult decisions regarding more invasive testing.  We were very lucky.   But I would say that with the development and implementation of the Harmony, MaterniT21, and Verifi tests, there are a lot of really good options for non-invasive testing that have VERY low false-positive rates.

Lastly, for me on a very personal level, I know that I would go far more crazy with the "What-ifs" if I did NOT test, and those feelings would last my entire pregnancy rather than just the short amount of time between when the testing is performed and when you get the results.  Yes, there are always false positives, but the rates really aren't staggeringly high and there is typically another test that can be performed to get a more accurate picture (if you choose to take that next step).

Good luck!!

 

Manada

Ah!  A timely topic for us!

 

We are still at the beginning of our TTC journey, and I'm not AMA, but because my ovarian function has already been identified as *seriously not good* we have been thrown a whole bunch of potential genetic & chromosomal (autoimmune) causes for this premature failure.

 

We tested me just this week for both Fragile X and the karyotype diagnostics.  Since then, I looked up Fragile X and realized that there is a chance that one of my mother's cousins has something similar, based on his disabilities and his physical appearance.   So I'm a little freaked out about it, and H. and are in this place of trying not to over-think & over-talk it, but also figure out how we feel.

 

I fall on the side of a positive for prenatal genetic screening.  That said, I don't know if I would if I didn't know that I might possibly be a carrier of the gene.  And if it turns out I am not a carrier of Fragile X, then I don't know if I will still feel like we should do the CVS or Amnio, but I would probably opt-in to the NT test.

 

Mostly, I feel like if we get pregnant and it sticks - then we will love the child we get as best we can either way.  I have tons of fear about what it might mean to raise a disabled child in our society, and what that means for my partner and I and our family. 

That said --- I think knowing before birth would give us time to grieve before we have a baby in our arms,  if we were to have a child with a disability I would want their first meetings/weeks/months with us to be full of love and support, rather than also trying to process understanding what their disability might mean.

valeriegp

I am 36 1/2 and due in just under three weeks.

We opted not to do any of the extra testing aside and relied on the thorough anatomy scan, which was put in as an "advanced maternal age scan" and so was supposedly more thorough than your normal scan. (Mine took about an hour and a half.)

We decided not to do the additional testing for a number of reasons (and I won't lie and pretend that cost wasn't one of them). The main reason was that the most likely diagnosis from the testing would be for Down's, and we would not terminate in that situation. Since Down's can often be seen in the thorough anatomy scan, we just decided to wait until then. We also didn't think we wanted to stress of a potential false positive.

I don't know if it was the right decision, but we haven't regretted that decision, and so far (knock on wood) everything has been fine with the baby (except that apparently he is gigantic, but that's a whole other story!). 

 Good luck. 

Edited for clarity! 

ball.and.chain

We are about the same age -- I'm also 34 but will deliver at 35 (birthday is in May, baby due in July).  I am definitely pro-screening tests.  The diagnostic tests scare me a bit; I don't know that we would do them if screening tests came back OK, but it seems like some doctors automatically do them regardless of the screening results.  Part of it is just wanting as much information as possible, but I agree with others that I would want the birth of my child to be as joyful an experience as possible -- so if my child does have a genetic condition, I'd like to know and process that information before he or she arrives.  Someone on my BMB said that there are some conditions for which it is advantageous to your baby's health if there is a specialist present at birth, and you would not be able to arrange for that if you didn't know ahead of time.  I've never read this from a reputable source, but nor have I read anything that contradicts it -- I am just starting to delve into the research.