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Anyone else nervous about the genetic testing?

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May 1st, 2009, 11:25 AM
L-SBB's Avatar Bébé Cowgirl
Join Date: Sep 2008
Location: Texas
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So at my u/s appt last week, I also got referral to a perinatologist for a consultative appt to understand the test options (and recommendations) for me given my age (I'll be 37 at delivery).

Even though i knew this was coming, I guess i thought it happened later so I was a little unprepared...apparently a lot of the tests are done between 14-16 weeks so they want us to do the consultative soon, so we can decide in time on which we want done.

I hadn't thought about the testing enough to be nervous about it until I got the referral...now reading some of the info they gave me I'm really not sure what to do - I know the consultative appt is supposed to help with that, but i'm suddenly really scared

Anyone else feeling this way? If you've already gone through this, did you have a hard time deciding what to do about the testing?

I think I'm slightly depressed b/c i've been deluding myself into thinking i'm not really high risk (just old LOL) but reading the Perinatologist's website they use HIGH RISK all over the place so it's suddenly being driven home to me that I guess i am (at least a little bit).

Savannah Stylin!

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10/13/2008 (@9w2d) 10/18/2011 (@8w5d) 2/12/2012 (@4w3d) 8/13/2012 (@10w3d)
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May 1st, 2009, 03:02 PM
trainermom's Avatar Mega Super Mommy
Join Date: Sep 2008
Posts: 1,801
Oh, Lara! You poor dear -as if being pregnant and growing a human being isn't stressful enough, they have to throw all of these tests at us. I did have the triple marker test done -my doc does two separate blood draws a month apart and then combines those results with a nuchal translucency test done via u/s. I had all of that around 12-14 weeks. The blood test results made me so nervous! I wasn't as stressed about the u/s translucency test because it is more accurate than the blood tests. Luckily, we knew right away with that -it checks for neural tube defects (not sure about Down's). I have had several friends who have refused to do any of the triple marker or quad screen tests. One friend in particular had a false positive (or increase risk indicated) and it turned out to be nothing. She was so upset about being put through undue stress that she refused the testing with her subsequent two pregnancies. It's a personal decision whether or not to accept the testing. Hopefully, your doctor will support you whatever you decide. I understand how you feel, though. Hang in there and KUP on what you decide to do!

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May 1st, 2009, 05:29 PM
Delsol's Avatar Mega Super Mommy
Join Date: Oct 2006
Location: Colorado USA
Posts: 3,507
Hi Lara - yes, we fretted over which tests to take with our first pregnancy. I was to be 36 at the time of delivery. Whenever I asked for advice, our doctors simply quoted stats then left it up to us. We felt very... lost.

We eventually opted for an amniocentesis which is performed at about 16 weeks. In the end, it was the right decision - for us. If anyone has any questions about what an amnio is like, I'd be happy to answer them. We will likely do the same this time (if we are lucky enough to get that far!)

Try not to worry too much! You are BARELY in the 'risk' zone. Just a baby yourself - tee hee hee.

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May 1st, 2009, 09:19 PM
Mega Super Mommy
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DH and I have opted for only the quad testing and we are still not 100% sure about doing it.

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May 2nd, 2009, 09:39 AM
SnowAngel's Avatar Mega Super Mommy
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Location: Upper Michigan
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When I was pregnant with Ariana I didnt turn 35 till a month after she was born. I had a test done during her pregnancy. Now I cant remember what it was. It had to be done in between 14 and 16 weeks and it was a blood test.

My Intended Mother declined any testing for this pregnancy.
Me~42 Dh~43
DD~17 yrs, DS~16yrs, DD~8yrs

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May 4th, 2009, 10:57 AM
*SamF*'s Avatar Platinum Supermommy
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I have no idea what I will do. We have discussed it to a point, and not sure which ones we will or will not do. I have a freind who tested positive for Downs, and that baby is now a 10 year old healthy, extremly smart little girl.
I know the doctor will most likely try to get me to do all of them beause of my age.

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May 4th, 2009, 12:49 PM
Platinum Supermommy
Join Date: Apr 2008
Location: Washington
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In the same boat as you Lara....only I'll be 42 at delivery. DH and I have talked a little bit about it, I don't want to scare him....yet. I'm pretty sure we'll do all of the non-invasive tests, but it might depend on what those results show as to whether we do others and what all those invasive ones can find out. I like the idea of the u/s for the nuchal tube.....supposedly, they can measure that and if it's on the large side it can indicate Downs and that along with the 1st tri screen (b/w) I think will be a big indicator of what we may (or may not) do next. Try not to worry about it. Do a little bit of research to see what's out there so you've got an idea of what the consultant will be going over with you.

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May 4th, 2009, 03:45 PM
Delsol's Avatar Mega Super Mommy
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Originally Posted by *SamF* View Post
I have a freind who tested positive for Downs, and that baby is now a 10 year old healthy, extremly smart little girl.
This is exactly why we went for the amnio directly - not wishing to deal with false positives.

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May 6th, 2009, 04:54 AM
CaseyM's Avatar Mega Super Mommy
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We opted for the nuchal tube and the blood tests because I have a nephew that has Downs and because of my age too. (I'll be 36 this summer.) The u/s part is scheduled for next Thursday. I'm a little nervous just because of family, but on the other hand, there is no one else that we know of in our side that has Downs, but my BIL has a cousin that has it. But we wanted to be sure. But we are not doing the amneo, also because of family history.

Love to share pics on my facebook....

casey cochran melanson
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May 7th, 2009, 09:56 PM
klt klt is offline
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I've had all of the non-invasive tests done. No CVS or amnio, I'm too afraid of the risks (even though they are really low...)

The N/T scan and blood test was very thorough. They did a genetic background of the entire family (DHs side and mine). The geneticist did an entire chart! Then, we went in for the u/s. The Nuchal measurements are really only a small part of the test. They look for so much more. The looked at the bloodflow to the heart, the umbilical cord, the brain, etc... They measured everything. They counted fingers and toes. They looked at the spine for any signs of defects. They listened to the h/b of the baby. I was over 12 wks, so, they were able to see stomach, bladder, and other internal organs that can't be seen until at least 12 wks. Then, they did a blood test (separate results than the u/s findings). Once everything was done, the geneticist sat down and went through all of the results. It was sooo informative. My OB recommended that I get the tests done, and I'm glad I did. I go back for my 20 wk u/s with the geneticist soon.

I also just had the follow up AFP blood test done. Normal results....Yay!

You just need to remember that all of these tests (except the amnio and CVS) are only looking for possible markers, not definitive answers.

It can be a tough decision. I've had the tests done with all of my PGs, and even more tests were done with this one. And, I keep telling you, you're not high risk...just higher than a 20yr old And, you're lower risk than me, you spring chicken!

Hope this was helpful!
Kelty---Mom of 4 boys!

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