S.C. asks from Milford, MI on March 24, 2009
Concerning CVS Results
Has anyone here had a CVS (chorionic villus sampling) with final results that showed a trisomy mosaicism? I had a few cells show trisomy 16. They are reccomending an amnio.
Has anyone heard of confined placental mosaicism or CPM? I am a mess. Please help.
So What Happened?™
Oh wow...got some great news today. The results of my amnio were completely normal!!! Thank you for all your feedback and support. What a horrible experience. I hope you and your families are all well and sincerely thank each of you for your input. You are angels!
K.G. answers from Detroit on March 24, 2009
Prenatal testing is wrong ALL the time! My sister was told that her son either had trisomy 16 or 18 (Downs or Edwards) and that she should get further testing. She opted out of the amnio but had the extra ultrasounds all which were inconclusive. She now has a perfectly healthy almost 2 year old.
Take a deep breath, Connect with your higher power, and enjoy your pregnancy!
K.H. answers from Detroit on March 25, 2009
I had a CVS which showed mosaicism. My OBGNY reassured me that it must be w/the placenta because an embryo w/that condition would not have survived to that state. It was not bad enough that you had to wait two weeks for the results (unless you wanted to pay the $1500 cash to expedite the results) then you get inconclusive info which makes you panic even more until having the amnio. I did have the amnio and the results came back negative and everything was fine. It made me feel better but one can't help but feel high anxiety when receiving conflicting reports. After my experience I talked to others who had or knew someone who had a CVS and not one person had a conclusive or accurate result. One friend said that her sister's CVS showed that the baby would have Downs Syndrome, however, upon giving birth-the baby was healthy without any chromosomal issues (she chose not to have an amnio and was worried for the remainder of her pregnancy).
Stay strong and try to relax and just have faith. An amnio might help to provide more accurate information for you, it did for me!
N.B. answers from Detroit on March 25, 2009
How many weeks are you? From what I understand about these samplings, they take CVS from villi (protusions) in and around the placenta. When even 1 of these cells has a positive result for trisomy 16, it's usually what they call "Trisomy 16 mosaicism". This is usually not confirmed with an amniocentesis. Also, trisomy 16 can effect just one part of the body (skin, lung etc), so it's near to impossible to determine the effects of this chromosomal disorder.
By the way, I am attaching an article which gives lots of information, hopefully it will help.
The only other thing I can tell you, is that I understand that you're probably scared out of your mind, but try to relax. Hard, I know, but a lot of these tests show chances, not realities. Just because there's something positive in a test result, doesn't mean your child will be affected.
Keep us updated, I'll be praying for you that everything turns out alright :)
A.I. answers from Lansing on March 24, 2009
hey S. yes i did with my 3rd daughter and my fear of needles and my faith in god i opoted out of the amenio had a few extra ultra sounds all that could not tell either way witch did not help the nerves in the end i had health perfect premature baby. test are not always right and amenio hurt and they are riskie good luck i will keep you and baby in my prayer
K.V. answers from Detroit on March 25, 2009
I am wondering why you had this procedure done. It is generally done(I thought) only on women who had pregnancies that were high risk for these types of problems, like whome who are over the age of 35 or people with a family history of these types of birth defects. Are either of these true for you? If not, or even if you are, take a deep deep breath, and don't panic. What would you do even if the results are true? If you wouldn't do anything, then relax and love on your baby. Show it all the love you have for it.
I had an ultrasound that showed signs of Edwards, waiting for the second ultrasound was one of the worst periods of time that I have ever had to endure. Sometimes I think that all of the tests that doctors do, can do more harm than good. I can't imagine that the stress hormones that were coursing through my body, did the baby any good. Mine came out normal and I ended up having a perfectly healthy baby.
Seriously, take a deep breath, you might want to consider taking a yoga class to help clear your mind, body and spirit of all the stress, and do what many of the other women, including me, did... pray for peace of mind, and a decision.
I really meant for this to be positive. I really hope that it helped. There really isn't anything that can be said or done to ease your stress, except to know that it can be a false positive, it's not that unusual. Good luck.
L.M. answers from Detroit on March 25, 2009
I have had genetic testing done in the past and I strongly suggest the amnio. There is nothing to be afraid of and it will give you the answers you need regarding your pregnancy. I totally feel for you as I have been in your shoes before. Good luck with everything and try your best to relax.
J.M. answers from Detroit on March 25, 2009
I was told the same thing! So I got a level 2 ultrasound, where they measure everything from the femur bone, to the size of the pinky finger. From there they said everything appeared normal and I chose not to do the amnio. I now have a healthy 2 year old. I have heard from many people that those test are constantly inaccurate. Goodluck!
L.W. answers from Detroit on March 25, 2009
Hi S. - To get the defined answer that you want (and to put your mind at ease) you need more objective information. An amnio is really the next step for testing - most OBs consider it the "gold standard" of antenatal testing. New data on amnios show a risk to the fetus which is much less than previously reported, as earlier studies were done without ultrasound guidance - essentially, a "blind" insertion of the needle without the benefit of a window into the uterus - clearly this would be more risky than a needle inserted with "sight". If you have a very experienced maternal fetal medicine specialist do your procedure - a high risk OB who has probably done 1000's of them - and ask whether they have had any poor outcomes - your risk falls even more. The results of the amnio will give you the answer either way as to whether your fetus has Trisomy 16. It is very rare, so the numbers are on your side. Good luck.