Down Syndrome testing

[johnny4]

I briefly scanned through (and searched) for threads on down syndrome testing and couldnt find any. My hubs doesnt want to do it, but I think it would be good to have peace of mind if it comes back negative or be able to prepare if it comes back positive. He said it's pointless because it will just make me worry for the rest of the 9 months. What do yall think about this - did you do either of the 2 tests??

[APEMBERTON]

hummm.. I am not pregnant yet so no testing..but I kinda agree w/ hubby!! You sound like you would keep it either way.YAY.. so you really wouldn't need the extra stress!! I know a heads up would be good, but there's not alot of difference in Down's babies(in the infant months) except their heart problems , so I don't think I would do it!!! Just my opinion though!!!

[johnny4]

Thanks! Yeah, the more I thought about it the more I decided I didnt want to do it... but when they give you all these brochures you kinda freak out - but I guess that's why they give them to you. So you can talk to your SO about it and really think about it. Not to mention -I wonder how many miscarriages happen from a little freak out that would have turned out to be nothing!! They say the 2nd sets of testing they do for downs could cause miscarriage... I would hate to get the "just kidding, everything is perfectly fine" and then have a miscarriage because of the testing.

Uggh... science is sometimes just a pain ;)

[APEMBERTON]

Oh I know!!! Like I said you want to be prepared, but at the same time your supposed to not stress out!! Also you are doing test to help your baby, but in the meantime you could kill it??? I mean seriously..What the heck do they want from us!!! I also heard alot of the tests can come back a false positive???? WHAT?? I decided that for now(when I do get pregnant) I will only do tests if an ultrasound comes back very bad or doctor really encourages it!!

[brandie1127]

I opted not to do it until .... they found a cyst on the baby's brain at an ultrasound appointment. Then I couldn't do it fast enough. It turned out to be nothing but the quad screen ( I think thats what you are talking about) only tells you "the risk" of the baby having one of the 4 most common disorders. As in ... there is a 20% risk ... etc. Do you really want to spend the rest of your pregnancy frantic about a "risk" It can come back 0 mine did, but still! Trust me something WILL happen! They'll see something on the ultrasound that concerns them or you'll get gestational diabetes or preclampsia or the baby will be too small or too big, I haven't met a pregnant person yet that the doctors didn't scare the life out of at one point of their pregnancy. No need to pay interest before you see the bill!

They saw a cyst in her brain and told me that "if" it was trysomy 18 she wouldn't live to see her first birthday! Talk about wanting to jump off a cliff! Turns out it was nothing!

They told my friend that the umbilical chord might not be in the placenta properly and the baby wasn't getting any nutrients. Guess what? Her baby was born 8lbs 6oz!

I agree with Apemberton - test for nothing until the doctor encourages it!

[johnny4]

Thank you guys!! There is a lot to digest during pregnancy... but I feel much better now... Now I'm just DYING to get the 1st ultrasound done!!! Next wed can't come soon enough - Other than typical signs and symptoms (gas, nausea, sore boobies, etc..) It still doesnt feel real. I just want to see the tiny little blob in there ;)

[brandie1127]

Awe the first ultrasound! I loved it. It was the only time during my whole pregnancy when I felt spiritual! Its nothing but a little gummy bear with little stubs were arms and legs will eventually be, but it was AWESOME! I cried like a baby, he got a little teary eyed too! ( probably for a different reason than me - but thats ok I'll take it) At 20 weeks when you have an anatomy scan thats cool too because it actually looks like a baby ~ but NOTHING in my mind beats that FIRST ultrasound!

[Pa_ool]

we tested and it was actually not by choice. My doctor ordered a round of blood test and when I read the results I noticed one was for down syndrome. To be honest I didn't even think of it as a posibility. I don't know why, it happens to people regarless of heritage and how well they treated their bodies. I know next baby I will want to know, just so I can study up and be prepared should my baby be that way. I know some people get tested so they can have a abortion and (well I am totally against that...) it makes me sad. Women in china (and thailand I think) abort babies that are female... that is the next step for us too.... makes me sad.

[gostomskiart]

We chose to do the triple screen (I think that is the name) where they take blood to test if you are a carrier and if there is a risk. I'm glad we did because the test came back that we were not a carrier but the 20 week ultrasound showed a spot on the heart which is considered a "soft" marker for downs. Although we went through our period of concern and emotion, we knew we would keep the baby no matter what. The dr. scheduled me for an advanced ultrasound where they could see other images of the heart and look for other "markers" on the baby. The blood test was actually something that helped me feel better because it did come back normal. The "soft" marker on the ultrasound doesn't necessarily mean high risk of downs. In fact half of children born have this spot (which disappears on its own) and many children with downs don't have it at all.

I guess what I'm saying is there is no real way to find out 100% unless you do an amnio. My hospital doesn't do amnio's unless they think you are high risk (which I wasn't) otherwise it is a bit of a guessing game.

I have to say, after a lot of worry, our advanced ultrasound came back great. Although the spot is there the dr couldn't find anything else and assured me that my risk was as normal as any other pregnancy and not to worry.

Do you feel you have reason to worry about risk? Is there downs in your family or is age a factor for you? Also, no matter what choice you make you will worry (about everything!!) But hang in there, it gets easier (sorry if I rattled on, you'll have to forgive me I'm just starting my 9th month and I am scatterbrained!!!) ;-)

[kare.bear]

Because I'm over 35 and pregnant with my first child, my Dr recommended I get the genetic testing...Both my husband and I agreed that we were NOT going to do it... I have talked to so many women who had it done, were told they had a high risk, went in for more testing, and then discovered that their due dates were off a few weeks so the tests were false. I do NOT want to go through that. Plus, my husband looked me in the eye and said "there is no way we would love a baby with Down Syndrome any less, so why worry about that now?" It melted my heart and reminded me why I love him so much!

[BethTheGreat]

We had the same situation as Pa_ool. The doctor said they'd do a routine blood test that all of her patients do. At the next visit she went over the results for the tests they had done with us and the down syndrome screen was one of them. Everything was fine, but i never planned on getting screened. Me and my husband knew we'd never abort, we would love whatever we had, so we didn't feel a need to get tested. But if you're a no-surprises, plan everything freak (j/k), then sure get tested if it'll put your mind to rest. There's no harm in peace of mind.

[mmk07]

I did one because my dr's nurse told me to, well I was 18 when I had my baby and I had the chances of a 40+ year old woman delivering a baby with down syndrome. I was so scared! I went and had the advanced ultrasound also, and he measured perfectly-bigger than his gestational age actually. they also offered to do a amniocentesis(spelling?) but I said no. And now he's 15 months and perfect. So just do it if it feels right to you.

[ashdunmire]

The high number of false positives and the possiblity of a spontaneous abortion from an amnio were enough for me to say no with my first baby. I decided to forgo it with this one too, and I am actually less worried now. This is my baby kicking around inside of me, no matter what!

[Noah's Mama]

You moms are so awesome! I am actually coming from another perspective. My husband and I decided not to get testing done b/c our baby is our baby and we knew we'd love him no matter what. He had a strong heartbeat and everything went flawlessly during my pregnancy, but in my heart, I knew that something was amiss. Our little guy was born full-term with mild Down Syndrome and a heart defect. You'd never know he has either though, he's very strong and meeting all the "typical" physical and cognitive milestones on time, some ahead... and is the light of our lives! We are so glad that we didn't get tested b/c we would have had so many misgivings and wrong ideas on what our lives would become...and a lot of worrying...and when you have this perfect little bundle in your arms, nothing else matters but how much you love him. In the end, you're the only one who knows what's best for you and your family.

[c_helwig89]

We didn't get it done. We figured that since you didn't need to treat the pregnancy any differently, there was no reason to get ourselves worked up over it...

[soxtpa]

I think this is a very personal decisiion for everyone- I just had an amnio test done since they had a few concerns from my last ultrasound. My blood work came back normal, but after a few issues came up- the amnio was suggested. I felt for me i would worry more about the unkown that I would about the facts. Therefore I chose to have the test- it was painful- not tooo bad on a scale of 1-10 it was a 3 for me( but I have a low pain tolerance) Thank g-d the results came back and the baby is fine- but I wanted to find doctors and pediatricians with experience in what i would need should my baby have anything so I went for the test- I guess it goes back to being a personal choice. There are pros and cons to both sides :)

[*Babylon*]

ah the testing... well, after my first appointment with the doc's nurse, she basically went over all the kinds of tests we should take(genetic, ultrasounds, down, etc.). It wasn't like "ok, we recommend you to take it", it was more like, "you need this done at this week and at that week", so we scheduled the ultrasound to measure the baby's neck, and we went there when I was 9 weeks. Because of my age, statistically the odds were 1:1200 of having a baby with down syndrome, after the ultrasound the odds went to 1:7500(OMG... seeing our baby waving her little hands and moving so vigorously just made my heart jump, and then hearing the heartbeat was just the most wonderful thing ^_^) .
Then we had a blood test as part of the Down syndrome testing. When we went to the lab the clerk explained that we had two choices, to get only this single blood test, which gave results in 3 days-accuracy 80%, or to get the "integrated" testing, which included a second blood test which measures the levels of proteins after the 15th week(high levels of proteins indicate big chances of problems like Down or spina bifida, for what I read), accuracy 94% results within 2 weeks. We had literally two minutes to decide which option we preferred, and since the doc asked to have the results back asap, we chose the first one, also the odds were pretty good, so we had no reason to worry. When we went back to the nurse with the ultrasound results she looked at us like if we were idiots and said it was a pity we didn't take the "integrated" option, because in any case I *have* to get this protein blood test done, so on 20th I'm scheduled to get this test and same day I get another ultrasound, what they call here "early detection", then we'll finally know if we're having a little boy or girl!
We got the blood test results and the odds are now 1:9999 of our baby having down. Happy about that!
Needless to say, the more I know about syndromes, deceases and such, the more I worry something may go wrong with my baby. If it wasn't for my hubby, I'd go insane with all the worrying, but at the same time, I do find comfort in knowing that the baby is growing just as is supposed to. I guess no news is good news in this case.
Regarding the amnio, I personally wouldn't do it unless there is some serious reason to do it. I know some doctors that oppose it for the risks it implies, while others recommend it almost as a routine test, like a blood one.

[RLTMommy]

My husband and I chose not to have the testing. We had to pay out of pocket for all testing and birthing of our child because we are self employeed. The Downs test is $300+. More importantly, there is nothing you can do if it is positive or not. We had already committed to love our child unconditionally before he was born. He does have a cousin with Downs. So, it was a possiblity for our child. I once heard having a child with Downs described this way--- it's like you are planning a trip to Hawaii. Exicited about your trip to Hawaii. Then when the plane lands you are in Australia instead. You are still in a wonderful place, just not where you expected to land. I would hope that if my second child had Downs, I would feel this way.

[sgrays01]

I am 40 and they are suggesting I have the Amnio test done. I am afraid of having them stick a needle in my stomach to do the amnio test. I probably will not do it. I will see how all the other test come out first before I make a final decision. Has anyone had this? The fact that there is a chance you can have a miscarraige due to taking this test makes me worried besides the fact that they are sticking a big needle in my stomach. Any suggestions or comments?

[mom2aboy]

When I was pregnant the offered the test, but we refused it since we were having the baby no matter what. I researched on it, anyways and found out that it has to be done at a specific time during the pregnancy, otherwise it will be a false positive, because of the timing. Glad we refused it. I personally have a friend who had the amniocentesis done because of her age, she was having the baby anyways, 3 days after, she lost a perfectly healthy baby. It is a very personal decision, but consider the risks before consenting to it.

[giraffes_buddy]

I'm close to 40, and my hubby & I decided to bring up the topic of the CVS test to my OB. Well, the OB brought it up before we could. I opted to have the test. Certain types of mental retardation run in my family, so we wanted to know.

Like amnio, a CVS test involves a long needle through the tummy, and a CVS can be done late in the 1st trimester (amnio is in the 2nd). I won't lie - it wasn't exactly pleasant, but it also wasn't nearly as bad as I thought it would be. The test came back negative for Downs and a plethora of other genetic conditions (e.g., trisomy syndromes, etc.), and that went far in putting my mind at ease. And for bonus points, they told us with 100% certainty that this one's a girl.

I can honestly say that I don't know what we would have done if the baby wasn't okay. I just know that, with my family history and my age, knowing one way or another if my baby has a medical condition is better for me than not knowing at all.

[jazzymae]

i think they will give you the test if the suspect something is wrong, your doctor ill talk to you about the test though. My doctor talked to me about it, in he said it could cause a miscarriage because they have to pierce the baby’s sac, which is a 50/50 chance.

[tskeehn010]

I was 28 when I had my first child, we had the quad testing done because we were pretty much told that it was routine procedure so we went with it. We got the phone call that his odds were 1 and over 200. We were scared so we opted for the amino because we wanted to be prepared. After getting the news I made sure to do a lot of research on the testing and found the results quite disturbing. The results of the amino was quite normal and were worry for no reason. I am now 31 and pregnant with our second, I did the quad screening again, but for different reasons. I made the doctors well aware of my concerns with the testing. The results of this test was 1 and over 4,000 and after the detailed ultrasound (high risk pregnancy) it went up another 4,000, so my husband and I decided we are not going for the amino. Even though I got better results with my second pregnancy than my first, I would still be hesitant until I was positively sure of the accuracy of the results.

[Jill_at_StorkRadio]

We did it, for the same reason. If it was positive I wanted to have support and resources in place. It only took a couple weeks to get each of the results back (it was a 2 phase process for us). I am all about having as much knowledge as possible, but that is also my way. Good luck with whatever you decide.

[craftyashley]

We decided not to undergo any gentic testing. It was a simple choice for me but I think it was a little harder for my boyfriend. I have three great uncles and a 2nd cousin who have differing degrees of mental retardation and I love them just as much as the rest of my family so I knew that no matter how my little girl turns out I will love her just the same.

I don't think it's about not loving the baby- but more about being prepared. If you have certain risk factors like family history, an older mother, etc. I think it is smart to get the testing done and be prepared. A lot of researching for when the little one arrives can only help!

[dawnangel]

I had the first trimester screening done and tested positive for down's although I am only 26. the results were 1:79 chance that I would have a child with down's syndrome. I also had the 18 week ultrasound done to look for other possibvle markers. It was discovered that the baby has an echogenic foci on his heart and that it is a marker for downs also. at this point my chances are now 1:40. i was offered the amniocentesis but i am still thinking about whether or not I want to have it because of the miscarriage risk. however, I can't stop stressing out about the fact that two diffrent tests came back with negative results. Anyone else in a similar situation?