Seeking Info on CVS testing/Trisomy Disorders

Updated on January 13, 2007
A.B. asks from Seymour, TN
9 answers

I had an ultrasound today at 12 1/2 weeks, and by OB GYN has suggested that I go see a high risk OB GYN. The ultrasound shows a possible Trisomy disorder. They want me to have Chorionic Villi Testing at the high risk OB GYN. Any info/insight would be appreciated.

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answers from Knoxville on

I do not know what the test involves but I do know that Trisomy is a disease similar to Down Syndrome. Some children have delays in learning, walking, talking, etc. Some kids have more problems than others.

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answers from Anniston on

Hi -- I'm a mom of an 8-year-old daughter who has Down syndrome (trisomy 21). When I was pregnant at age 28 (second child), I took an AFP test (alpha fetoprotein or something like that) or otherwise known as triple screen. It is simply a blood test that shows a possibility of certain disorders, including Down syndrome. Others have mentioned "false positives" on this test, but that's not really accurate. The test simply shows high or low levels of certain proteins in the blood. In a certain percentage of cases, those high or low levels indicate certain disorders. But it's not a "false positive" because it's only a POSSIBLE indicator. What they do is factor that "possibility" with your age and then give you the odds of that pregnancy being a disorder like Down's. For me at age 28, it was something like 1 in 80. Most of the time, those high or low levels won't mean anything at all, but SOMETIMES they do mean the baby has a disorder.
Another thing I want to clarify: Trisomy 21 is one of the most common Trisomy disorders -- trisomy can happen on any of the 23 chromosomes. There are other Trisomy disorders but many of them won't even make it to term -- they simply won't be viable. Down's is a trisomy disorder that stays viable. There are, of course, telltale signs of it, mental disabilities and sometimes heart problems, but it is very possible to live a healthy, full life.
So for me, when the AFP/triple-screen test showed a possibility of Down's, I decided to go ahead and have an amniocentesis at 18 weeks. Chorionic villi testing wasn't as common then, probably, and I was further along that I was past that stage of having the CVS. For me personally, having that amnio then and finding out that my baby had Down's at that stage of the pregnancy meant I had time to digest the information and be prepared. When my beautiful daughter was born, we all knew ahead of time she had Down's and no one was shocked, there wasn't silence in the delivery room, etc., like I've heard from other people. It was just a nice, normal, happy occasion that we all rejoiced over. From my perspective, I would go ahead and have the testing. It's possible you could wait until later and have an amnio; I have no idea which one is less risky. That's something you could find out more about. If it's another trisomy disorder other than Trisomy 21, I couldn't tell you much about those. But I can definitely just tell you what I know -- that my situation was and is a very positive one, and I was very glad to have had the information at the earlier time. Some people who have been in a similar situation have chosen not to have an amnio because of the slight risks involved, which is certainly a choice that's fine as well. But for me, I really did love just knowing and not having to wait through the whole rest of the pregnancy wondering and being worried. I got the results, made my peace with them, and got prepared, and had a great pregnancy and a great child! Good luck!



answers from Nashville on

I had this test done during my pregnancy because of my age. The test will not be difficult for you at all. They'll take a bit of fluid and you will be able to watch the procedure on the ultrasound machine. It isn't painful and it is delightful seeing your tiny baby moving about. They will check the chromosomes for known abnormalities and can tell the gender of your child very early on. Do the testing for your peace of mind. It will allow to do research and make any plans that are necessary now. Good luck.



answers from Chattanooga on

I was 35 when I had my son and 37 when I had my daughter. Both times, my triple screen came back with risk of Down's syndrome. We went for high-level ultrasounds with both kids. Both times, the high risk dr. said she was pretty sure that everything was ok but the only way to be certain was to do an amniocentesis. She also said that unless I was willing to terminate the pregnancy if there was a problem, she would not recommend the amnio because doing it increased the risk of miscarriage. We knew we would not terminate, so we declined the amnio. My kids are both perfectly healthy.

My advice -- go see the high risk dr. Talk to her about the pros and cons of doing the CVS. Ask if there are other less invasive tests they can do I know that for Down's they can take some measurements of the neck on the high level ultrasound to help determine if the baby has Down's Syndrome.

Hope this helps.



answers from Huntsville on

I know you are probably very worried by the news your OB gave you. Did you have any testing done on your other lost pregnancies? The most common reason for miscarriages is a chromosomal abnormality. I look at it as your body naturally taking care of an error. Not that it makes losing a pregnancy any easier, because of course it doesn't.

I think you should go and at least talk to the high risk OB. They are the experts and in fact are much better at picking up findings on ultrasound than your regular OB. Most features at 12 1/2 weeks are hard to see and I would think it would be hard to detect a problem with your baby at this stage. That is why most anatomy scans are done around 20 weeks so they can pick up any problems. Your not obligated to the CVS testing by going and they may be able to answer all your questions and alleviated your fears. If something is wrong better to find out now and be able to make your plans than to find out later. I wish you the best of luck and will keep you in my prayers.



answers from Biloxi on

my daughter is 2and 1/2 months now. but i tested positive for trisomy 18. then they sent me to have an ultra sound done. and everything looked ok they say the best way to know is to have the amnio done but i was 33 my other daughter is 17 and i was told i woulnd't be able to have anymore after her and it took me 17 years. to me the risk were to risky to do that so i chose not to.but you need to do what u feel is right for you.if i would have had it done it would have only told me if she had it or not they told me there was nothing they could do but abort it, i told them i didn't care if she was born with it. i would still love her no matter what but there was no way i would abort. so i just waited and she is perfectly fine. but you do what you feel comfortable doing. sorry i sound like i am drunk lol its 4 am and the baby decided she wanted to swing lol but good luck to you anyway i'm sure it will work out



answers from Knoxville on

I recently went through this same thing in my pregnancy ( I am currently 23 wks along). My bloodwork came back and showed abnormal hormone levels which they said was an indication of trisomy 21. As a result of that test they did an ultrasound that also showed one of the twelve indicators they look for. thus they said the baby had a 1 in 17 chance of having downs. We went ahead and had an amino done to be sure just so we could be prepared. The results came back normal thankfully. The waiting was horrible but it is good to know now that everything is okay. I would definatly follow your doctors advice and see a high risk OB. If you are willing to risk it having an amnio done really set our minds at ease just knowing for sure one way or another to prepare is great. This also allows you to make a decision whether or not to carry to full term or to terminate the pregnancy if you desire. The amnio is 99.9% accurate. My heart goes out to you I know how terrrible you feel. I hope everything turns out alright. Best of luck



answers from Tuscaloosa on

I also tested positive for Trinomy and spent A LOT of time freaking out unnecessarily. The Triple Screen produces A LOT of false positives. I was told up to 90% test false-positive. My husband and I went to a genetic specialist and they did a high tech ultrasound which allieviated most of our fears. We opted not to do amniocentises, but that is an option to further rule this disorder out. Please don't worry. I will say a prayer that everything will be just perfect for you and your precious baby.



answers from Nashville on

My only suggestion on this is a question my OB asked me. Would testing change anything for you? My OB said that if testing would not change whether I carry the pregnancy then the risks do not out weigh the benefits. I would see the high risk specialist but alot can be told simply through the US and I would not put myself or my baby at any undue risk if the results really wouldn't change the course of events. This is truly a personal decision that you and your family need to make. Also ask what the false positives and/or negatives are for these tests, because many of the early testing methods can result in false positive results (per my OB).

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