Hi All, I had my 18 week ultrasound followed by a more detailed ultrasound at hospital at week 20. At the hospital, I was told that our son has a soft marker of calcium deposit which is associated with down's syndrome; there are no other markers of symptoms. They gave us 1 in 10,000 chances of down's which is comforting but still more scary that it was before we found out. Has anyone else any experience with this situation? I am Indian and we were told that Asian (I assume Indian is part of that group) has higher calcium deposits. We are trying to be positive based on the odds given but still would like to hear other's experience. Thanks.
I had the same thing with my first and there was another soft marker as well...my baby was born completely healthy.....although I would have loved him all the same. We went in for another ultrasound at like 30ish weeks and the marker was gone.
Don't worry about it. When I was a surrogate, the boy I was carrying also had the calcium deposit, which increased the chances of DS for him from 1/5000 to 1/2500. Still ridiculously small chance and really nothing at all to worry about, especially with no other markers present. The marker disappeared later in pregnancy and he is now a happy, healthy, perfectly normal 3 year old. Congrats on your pregnancy!
ETA: please be very careful in considering amnio. I did have amnio with two of my own children and the tests were fine, but their chances of having a severe issue (Trisomy-18 with one, DS with another) were much higher than yours, like 1:200. The OB for my surrogacy did a wonderful job of explaining the miscarriage risk of amnio vs. the risk of DS. Recall that in our case, the risk of DS was 1:2500. The risk of miscarriage from amnio is 1:250. So it would take 2500 amniocentesis procedures before one child with the same risk factors as this baby would have Down Syndome and in that testing process, 10 healthy babies would have died. In your case, that goes up to 40. Your chances of losing a pregnancy from amnio are 40 TIMES higher than the risk of your baby having Down Syndrome. So yes amnio will give you a conclusive answer, but I doubt that the doctor would recommend the testing given the relative risk of that vs. your test results.
I was told my daughter was missing a bone in her pinky fingers. (Down syndrome children often have a shorter pinky bone.). The pernatoligist told us that she had only seen one other child missing the bone altogether and they were a severely effected Down syndrome baby. She had us convinced our baby had it. Long story short, I had an amnio that day and I received the FISH test results in a few days. My daughter is perfectly healthy and her pinky bones are there. The bones just had not had enough time to calcify.
Best of luck! I would bet that your baby is healthy. The odds are certainly in your favor.
Edit- talk to your doctor but amniocentesis is very safe when done by a perinatologist. My doc had never lost a child due to the procedure. My ob said they factor in docs like him (OB) doing the procedure when it is really not his area of expertise.
An Amniocentesis is the most accurate testing.
They will want to follow-up with an amnio to confirm/reject... I strongly recommend that you do so. It will reassure you greatly or allow you to prepare yourself.
Best wishes and positive thoughts your way!
My son had a 1 in 25 chance based on hormone levels. I chose not to do an amnio. I know the risk is very low, but I didn't want any risk. It was not going to affect my decisions.
I just liked knowing it was a possibility so I could do some research and prepare myself in case. He ended up not having Down's Syndrome, but I was o.k. with it.
Sometimes I think it's scarier to know about these things and worry than to not know. 1 in 10,000 is still 9,999 chance he's fine. And if time goes on and you see more evidence that he has it, then you get informed, figure it out and find support. http://www.ndss.org/
If you are worried about an amnio, as many suggested, ask your doctor about the new MaterniT21 test. It is non-invasive to the baby and gives you a 100% accurate result for Down Syndrome and a couple of the other trisomy disorders. I'm not sure if it can be done this late in a pregnancy, but it is definitely worth looking into.
My sister lives about 15 miles from Norwood and she had it done in October, so it's definitely available from at least some doctors in your area. Her ultrasound or initial bloodwork had given her a 1 in 40 chance of Down's (2.5%) but her baby (due next month) did not end up having it.
My son had some spot on his heart that was a "marker". But there was nothing else.. all other tests done with the sonigram were fine..
My son is perfectly normal.
If you want to know for certain, have an amniocentesis.
During a similar timeframe to you during my second pregnancy I was told I had a soft marker for Trisomy 18. Detailed ultrasound showed no other markers and everything typically developing, but they still said there was a 1/100 chance of a chromosomal abnormality. However, my perinatologist said that if the prior doc had not seen the soft marker, which was gone on the detailed ultrasound, he would never even consider further testing. I chose not to risk the amnio- but I had done a LOT of studying about Trisomy 18 and was comfortable with the positive ultrasound results.
I know exactly how you feel and I know that the only thing that made me feel better when I was so stressed about the soft marker was reading zillions of stories online about people with the same thing where everything turned out OK. So for what it is worth, we are yet another story where our son was born without Trisomy 18 or any other chromosomal differences.
I agree with the other responders, please get an amniocentesis to be sure, it will give you peace of mind!
