To Test or Not to Test? Chorionic Villus Sampling Test for Down's Syndrome

Updated on February 04, 2008
N.H. asks from San Rafael, CA
10 answers

My OB GYN is recommending I take this CVS test for Down's Syndrome, but I am hesitant to take it. It seems so invasive. Has anyone had this test done or perhaps chosen not to? I'm thinking I might just take the screening test first and then the amnio test later. I would love any advice you have to give.

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So What Happened?

Thank you to everyone for your responses. I can see that this is a very personal choice to make and the more I hear from folks like you and talk to my friends I am leaning toward not taking these tests. I may just go with the screening and then decide from there. For me, I must admit, I am concerned about having a child with Down's, but no more than any other problem that may arise. Really, it is not up to me how this pregnancy will go so I think I'll just let nature take its course and hope for the best! Thanks again.

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S.S.

answers from San Francisco on

we had a chance of 1-20 of having a downs child. We pretty much just accepted that she may have. We refused the amnio because they really can cause miscarriages and we had already had an AWFUL time getting through the pregnancy. She had already lost a twin so i was bleeding and losing water the first 4 months. We did the "really good" ultrasound, sorry can't remember what they call it. and she didn't have any of the markings for downs. After that.. We left it as is. She is a very normal, rambunctious, healthy little girl. I am so glad we didn't do the amnio.

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B.T.

answers from San Francisco on

Hi N.!
Congratulations. I am also pregnant and have a 4 yr old son and with both pregnancy's I chose not to have the test taken. My personal belief is that even if it comes back positive for downs, that I wouldn't terminate the pregnancy, so why take it and run the chance of having a stressful pregnancy. Plus, this test is known for resulting in false positives. So why stress about something that may not be real? However, some would choose to know so they can be more prepared. It's obviously a personal decision. Good luck with your decision and have fun during your first pregnancy.
B.

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L.C.

answers from Sacramento on

This is coming from a mom with a Downs child. My question is, will it change what you do? What is sad is that since more doctors are recommending these tests be done, the abortion rate because of possible Downs has escalated to about 80% for a test that has many false positives. Having a Downs child is not the end of the world. A day does not go by that I am beyond thankful for my little one. Never once have I regretted him or his disability. Please consider the reason why you would want the test to be done, if it would change your thoughts about being pregnant, or if it is your doctor who would be pushing for this and possible termination of the test came back positive. This is a very personal choice, I understand, but not matter what (Downs or not) this is a child.

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S.J.

answers from San Francisco on

N.,
I had the screening test done, My doctor told me it was my choice and if my blood screening came back bad then I could do the amnio, and everything came back normal.
So it's a personal choice I think and I also think that Amnio's do have the false negatives I have heard so many stories about Positive results coming back saying someting is wrong which causes a lot of stress on the family but in the long run everything came out to be fine.
So good luck and do what you feel is nessecary for you. Also, Why does your doctor feel the need for the CVS, is it due to your age? I was 35 turning 36 when I found out I was pregnant and my dr explained both tests and said it was my choice.
So best of luck and Congratulations on the pregnancy.

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J.A.

answers from Sacramento on

I went through 1st trimester genetic testing (is this the screening you are talking about or are you talking about the blood test at about 16 weeks??) due to may age (38) and the fact that I lost a pregnancy at 22 weeks. This screening included meeting with a genetic couselor, a blood test (that was sent back east for results) and a high level ultra sound (I would reccomend this test depending how far along you are...I think they do it about 11 weeks...). Those result came back great and with those results my dr. and I decided not to have an amnio. Then I took the 16 week blood test screening (big mistake...) and my dr. called me one evening (you know it isn't good when the dr. calls at night..) and said the blood test came back with a 1 and 8 chance of downs. She felt that there was a good possiblitliy it was a false postive (happens all the time) because of the results from the 1st trimeter screening (she felt they were more accurate..but they always have you do this test as a "2nd" opinion)...but it was up to my husband and I if we wanted to go forward with an amnio. This was incredibly stressful for us. We went forward with the amnio (not sure why your dr. would do CVS instead of amnio...) (we wanted to be prepared) and everything was fine....so just wanted to share my story because I later found out that many people have had false postives with that blood test screening (I know it has a name...but can't recall)and it could add some stress. I had refused the test with my first pregnancy because I was pregnant with twins and my dr. told me it almost always comes back positive when pregnant with multiples.

As many have said, this is a personal decision and whatever choice you make is the right one for you and your family. Just don't stress out if the blood screening comes back positive and if it does you may want to think about having the amnio (istead of worrying the rest of your pregnancy)...I researched a lot before I had mine because my sister was a bit against it...and what I found was that what is most important is who does it...you want a dr. who does it all the time and ask what their miscarriage rate is.
Congratulations on your pregnacy!!! It was a long road for my husband and I to have kids and now we have 3!!!! Well worth the wait!!!

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D.W.

answers from San Francisco on

I am with the majority here. While the tests are in theory relatively safe, they are not COMPLETELY safe, and whether or not that very small risk is worth it depends upon how important the information is to you, and what you would do with it.

I did the blood test screening but neither the CVS or the amnio with either of my pregnancies, and I was 38 and 41, respectively. I would not, under any circumstance have terminated pregnancy, and no other reason could be provided to me for having these tests done. What was interesting was that with my second pregnancy I sensed that doctors actually worry about being sued if your don't take the test and end up with a baby that has Downs. I had to be very clear that I knew exactly what I was doing in declining the tests, and the discussion was repeated during multiple visits.

It's been interesting to discover that a lot of women also decline the blood test screen, because it isn't all that accurate, sometimes indicating a risk of Down's when there really isn't one. For me, the opportunity to be prepared that something might be wrong was worth the risk of bad information, but I would not have taken the CVS or amnio even if the blood test screen had shown high risk.

I am glad that you are asking this question. I think it is important for women to understand why they are offered certain tests, and if the potential uses of the information are consistent with their personal values. The choice is entirely yours, even if the doctors don't always present it that way. You are the only one who can know how much value the information has to you.

Congratulations on your pregnancy and my best wishes for a healthy and happy baby!

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L.R.

answers from San Francisco on

At 44 years old, I was anxious about genetic issues during my early stage of pregnancy, I did have the CVS performed at UCSF. UCSF is one of the pioneers of this test and they have lots of experience. I simply felt that I could not embrace my pregnancy until I had the type of confirmation found through CVS or an amnio. The wait for an amnio simply seemed too long for me. Although, I was happy to wait for an amnio with my first child when I was 38 years old.

Congratulations on your pregnancy and best wishes in weighing the risks and benefits of genetic testing.

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T.F.

answers from San Francisco on

Like others have said, if the results come back and nothing would be done other than continue the pregnancy, then why take that chance. You have tried hard for this long. Personally I wouldn't.

I was a surrogate with a twin pregnancy and the screening test came back positive. It was then that I did a lot of research on the results of those blood tests. From what I found, there are so many instances of 'false positives' especially in older mothers and/or multiples.

I think you just have to ask yourself what you will do if the test were to come back positive for Downs. If you won't do anything, don't do the test.

Good luck to you!! and CONGRATS on the coming baby!!!

T.

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E.T.

answers from San Francisco on

Personally, all the adivce in the world will always have pros and cons. This one, obviously sensitive and controvercial d/t the result of the test and your choice on what to do with those results (continue with the pregnancy or terminate) At 29 and pregnant with my 1st I was told by my MD that my blood test came back "abnormal" and I needed an Amnio. Extremely nervous we went thorugh with it (we wanted to know either way what we we needed to plan for). Your choice to terminate but if you choose to continue then your delivery life will change with a child with special needs, it might help to know ahead of time???? totally your choice. Now I have 2 strapping young and healthy boys.

So your age qualifies you for CVS or Amnio. Both perfectly safe! There are ALWAYS risks. There's a risk of walking down the street and driving your car but no one asks you to sign a waver for that. CVS is down earlier than Amnio. CVS gives you more time to decide (keep or terminate).

I work in the medical field and I am very comfortable with technolgy. knowledge is power but also comes responsiblity. it's hard either way.

my "real" suggestions is to go to the specialist and talk it over. There is NO commitment of getting the test when you're there. You can always decline the test. Just talk to the professional genetic councelor. WARNING: some of the statistics are over whelming. If you are local the Stanford Genetics Center is AWESOME. All of my medical friends with kids who have gone there have RAVE reviews.

My thoughts are with you and your husband during this time.

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C.M.

answers from San Francisco on

I'm with the last person...

Most women that get this test don't experience any negative side effects. However I know of one that lost one of her twins to it... (and I think in the end... there was no downs)....the other suffers from being born way to early... all because of the test...(and I don't think it was performed correctly...so this is an EXTREME case) I can't imagine risking a healthy pg just to know... unless you would terminate with bad news... I don't think it's worth stressing out for the rest of your PG... If your baby has downs... you will love him/her regardless...

Best of luck with a healthy PG... and your little bean!

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