Genetic screening? Did you do it? Opinion?

[carolrenee]

Hi!
I'm due mid- April, this is my first pregnancy.  We are so excited, happy and nervous.  I feel so blessed to have concieved naturally at my "advanced" age, AGH. I'm 40 as of July and have wanted to have kids for some time.  Just been with the wrong man at the wrong time until recently!  I feel so fortunate now, but hate that there is so much negativitiy and paranoia about getting pregnant at this age.  I am healthy and have taken good care of myself - I don't know why the medical profession wants to make us more worried about the possibility of genetic issues with this "screening" process that seems questionable at best.  Any other mom's-to-be dealing with this? Would love to connect with other mommas.

[carolrenee]

Thanks for all these thoughtful replies.  It's nice to know we are not alone out here!  It's not that I'm against screening or testing for anyone personally, I just question the decisions that modern medicine makes in supporting invasive testing (amnio) to the extent it does.  Even if amnio or cvs have a small risk of miscarriage, it's problematic that "older" mums are getting so much negative information, and being encouraged to take this risk.  We need to be happy and hopeful, not so stressed and worried! Most moms at older than 35 are having healthy babies.

[adgal]

I had my son at 40.  I did do the first trimester screen (nuchal and blood combined) and came back with a risk factor of 1:13.  I did opt for amnio and found out my son is perfectly typical.  Let me clear up a few misconceptions I see posted above about amnio.

First off, risk factor for miscarriage after amnio is not 20%.  It's 1:400, so that is actually .0025%.  Also, having amnio has nothing to do with whether or not you would terminate.  I know more then one women who's child proved to have ds through amnio, and they kept the babies.  It did allow them to prepare both emotionally and in other ways.  I too would have had my baby.  It was important for us to know for a number of reasons.

Even in older moms like us, issues like ds, trisonomy 13 and 18 are relatively rare.  You need to make the decision that is best for you.  I am neither an advocate for, nor am I against amnio.  I believe in knowing your facts, having the information you need, and then making the decision that you feel is the right one for you.  Congrats on your pregnancy and all the best to you.

[mandaszoo]

Hi there I think you want reasurance that all is going to be well with your baby without all the negative stats. For what it is worth my sister in law had healthy first child at almost 39 . Also I had my first DD at nearly 20 and she had heart problems so we spent a long time staying in Great Ormand street Hospital London wher there were children  with chromo defects and many down babies who are prone to heart defects too. All the mums I met were of different ages and most young like i was.Every one of us adored our babies I think you have decided you will love your child no matter  what so enjoy your pregnancy and look foreward to being a mum. You are right the chances of having a healthy baby are very high. Good luck. Manda

[healthygirlandboy]

i would never do that type of testing (amnio) the risk of having a miss carriage after is like 20%... just love this baby no matter what1 i had two kids after 30 one after 35 and all is well.. i have a cousin who is due in november with twins she will also be 50!!!! (in november) and all is well!

[Helen72]

There was a member on this board few years ago who did have a dd with downs.  She was screened as high risk and then amnio confirmed triple chromosome 21.  She said that doing amnio was the best decision they ever made even though they knew they will keep the baby.  She said no matter how much you tell yourself that you will love your baby no matter what it would have been a terrible shock.  This way everyone was prepapred and they received nothing but congratulations on birth day (as opposed to "I am so sorry this happened to you").

[carolrenee]

Hi Helen - I totally respect and understand your perspective, but I am really just already fed up with all the hype about being a "high risk" for pregnancy.  Even at my age, the chances are good that baby will be healthy, so why do we have to deal with all this negative information designed to stress us out?
Cutter, I hear you!  I would really rather not do the screening or the amnio testing because I think the whole thing seems inaccurate and designed to make you stress out more.  Plus I have read that amnio increases your chances for miscarriage.  Like we need more stress??  After being told we have a greater chance for miscarriage, early delivery, etc, etc.
I am considering doing the screening, but I personally don't want a amnio.  There's no way I would want to abort even if there was down's, and I would feel blessed to have a child no matter what, after having to wait this long!

[Helen72]

p.s.  NT scan gives you the risk (1 in 50 lets say) while amnio is 100% accurate.
If you forgo all genetic testing in the first trimester they will probably tell you that something is wrong at your big anatomic scan in the second trimester.
As I said, in most cases everything is OK.  

[cutter1974]

I turned 40 in April. My baby will be born one month before I turn 41.
I had 2 miscarriages last year and is will be my first and only living child.
We opted to NOT have any nuchal testing done. We don't want to know if the baby has downs or to. We are going to love this baby no matter what.
I hear the statistically downs happens more often in younger people than older people.
I also know of people that have had the testing down and were tod there was something wrong with baby. And they stressed and fretted the entire pregnancy expecting the worst, and doctors were wrong. Baby was perfect! Nothing abnormal. So, really the test only gives you percentages, not a 100 percent.

[Helen72]

Congratulations on your pregnancy!  I am pregnant at 39 and just went through genetic screening.  Unfortunately, chromosomal abnormalities have nothing to do with your health or lifestyle.  You have several options available to you.  At 10-12 weeks you can do an NT scan which is just an u/s with a blood test.  This test will tell you if you are at a higher risk based on some baby measurements.  If you are screened as high risk you can do amnio which was a pretty painless test (just had it done).  Should you do amnio if you are screened as high risk?  It's your choice but it's best to know that everything is OK with the baby than constantly worry about potential problems.  In most cases, everything goes well and there are no complications.