I got my level 2; 20 weeks ultrasound done. The doctor told me baby is normal except that he has a white spot on her heart left ventricle. I did a thourouh internet search and found out this can be a "soft marker" for Down syndrome and chromosomal abnormalities. However my Downsyndrome 1st trimester tests are normal. Even though I am taking a fetal echocardiography test 2mrw my mind is not on rest and i am panicking since then.
In case anyone has information on this please let us know if these white spots are a matter of serious concern or present serious risk for the baby.
asked 20 Mar '11, 03:30
I had the same concerns with my baby who is due in 3 weeks. We went to a genetic specialist and basically that spot on the heart 1 in every 100 healthy babies are born with it. This Link shows a question that I asked shortly after I had my ultrasound as well as the results we got from the genetic specialist. We were assured by our doctor that the spot was not a heart defect. It would not be an effect on the babies health. It is just something that could be a sign of down syndrome.
I cannot sign in to my account but hope this helps you.
answered 21 Mar '11, 15:21
It's called an echogenic intracardiac focus (EIF). Those of Asian descent are more predisposed to them. Yes, it is a soft marker for Down's Syndrome which means it doesn't guarantee your baby will have Downs. Your doctor can better explain your chances of Down's Syndrome from your bloodwork and other tests (if you are under 35, the risks are lower). I am Asian and 37 weeks along. We had an EIF in our level 2 ultrasound at 20 weeks as well. Personally, we only elected for the quad markers (blood work) to get our probability for Downs which was 1/3000. We have accepted that number and did not elect to do any more tests.
An EIF is not a reason doctors will suggest to have amniocentesis done though you can elect for one. And you can elect to have the genetic test, chorionic villus sampling (CVS). Your baby is not at present risk. I too was trying to wrap my head around it when the tech told us about it.
Research the tests to learn more about how they are performed and what the results will show. Some people choose to not have extra tests done if:
Some reasons people choose to have another test:
Do what you need to do to not stress about it. Stress can lead to pre-eclampsia which is very dangerous for baby and can lead to a premature delivery. If you think you will continue to worry, you may want an additional test to put your mind at ease.
Ultimately, it's you and your partner's decision. You have to do what you feel is right. Good luck!