Echogenic Focus in the Heart?

I also had a bright spot like you described, but I was told at the time it is one of I beleive they said seven markers that would need to be there, so since I only had one it was not an issue. It wasnt, I had a very healthy boy. Hope this puts you a little more at ease.

C.,

I agree with everything Cora said..word for word.

I had an echogenic focus at 21 weeks of pregnanacy as well. I spent so much time worrying about it. My OGYN seemed to be the least concened and said that it often appeared in asian women(I am of asian ethnicity). On a follow up ultrasound, the echogenic focus dissapeared and I delivered a healthy boy in February 2006. He's a smart and fun kid, goes to dayacre full time and has met or exceeded evry milestone thus far!

Please don't worry about this..if it makes you feel better, go for another ultrsound a few weeks from now. Babies develop at different times, so the spot could have been tissue developing and could dissapear in 2-3 more weeks. Again, I know how anxious you are but I really don't think this is something to be concerned about. Good luck!

C., I happened across your message and couldn't help but respond. My name is L. and I'm an ultrasonographer and happen to specialize in high risk obstetrics. I have about 14years experience. I'm not sure where you live I'm in the Boston area. Also a mom of two and soon to be three boys... The truth with this Echogenic focus is that you first must know that this will NOT or does NOT effect the function of the fetal heart. A 3-D ultrasound will not add any information for this specific finding. On any given day in any department with the general population ( not high risk) patients we would see multiple Echogenic Foci cases. This is very common. This is considered a "soft" marker for Down Syndrome. You are young and if that is an isolated finding with a normal blood serum screen I personally don't know any High risk doctors ( MFM- maternal fetal medicine) that would try to sway you to do an amnio. The spot is not usually a genetic disorder. My suggestion to you if you would like more information is before you consider an amnio ask your doctor for a "consult" with a genetic counselor /and /or an MFM Dr.( Usually they work together with us as well) I am fully confident after a conversation with either one of these people you will feel more confident in your " low risk" pregnancy. I will say that pregnancy is a unique situation in our lives where we are given the power to choose almost how much information we want to know or not. This even I found with my first pregnancy somewhat difficult to handle. My entire life I studied a book and took tests...There was always an wrong and right answer... Pregnancy is uniquely opposite. It's still not wrong to want answers ahead of time if that is what you choose. No one truely knows how you feel except you. This is what should help you in your decision about the amnio. You should not feel judged for any decision you make. I'm 36wks myself and I'm 35 years old and actually chose no testing at all other than ultrasound. I really and truely wish you the best and I hope you can enjoy the remainder of your pregnancy. It will be over before you know it. I truely feel sorry for women that go through entire pregnancies so worried they don't enjoy any of it. Okay, I digress and I hope I gave you a little bit of information that can be helpful to you. God Bless, L.

Hi C.,

I went through the exact same thing. My doctor told me that it is 99% nothing and that the technology is so good with the u/s equipment sometimes it just picks these things and then turn out to be mothing. I went for a level II ultrasound 2 weeks later. The worst 2 weeks of my life! The results of that ultrasound were normal and the bright spot disappeared! I did not have an amnio and never thought about it after the ultrasound. My son was born healthy.
Good luck and let us know what happens.

Hi, Congrats on your pregnancy. My pefectly healthy son, niece, and nephew all had this finding, plus a few friends' children. All are fine. All of us were in our 20s and none of us had the amnio. This is considered a "soft" marker for Down's. Usually there would be some other major abnormalities. Check with your doc for his/her opinion.

Hello C.,

At my first level 2 ultrasound, they also saw a bright spot and they saw extra fluid in the brain section. They wanted me to have the amnio but I have a history of miscarriages so I didn't want to go that route. They referred me to Children's Hospital where I got another ultrasound and a fetal MRI. While the fetal MRI was very scary for me, the neurosurgeons did not see the white spot and felt that it was only mild ventriculomegaly which could mean anything from Down Syndrome, to nothing. Since then, I have been getting ultrasounds every 4 weeks and now at 34 weeks I am happy to report that the fluid in the brain area is gone. I am now looking forward to having this baby next month. It is good that your doctors are following up with you and will continue to monitor you.

Merry
(SAHM of 3 yr old, 34 wks pregnant with second and am 37 yrs old)

Put it in God's hands - He gave this precious baby to you, and He will protect him/her. My husband and I didn't face this, but I had already decided that if any warning signals had cropped up, I wasn't going to go any further with discovering (amniocentesis). I was just going to leave it in God's hands. God works all things out according to His plan. Good luck!

Hi C.,
I agree with Cora. I had my big ultrasound at around 19 weeks and the echogenic focus showed up on my daughter's heart. Before I get in to the details - my daughter did not have down syndrome or anything else - perfectly healthy baby born in Feb 2008. My OB similarly said that it is a very weak marker for down syndrome. That absent any other markers, it is probably unlikely to be downs. (My triple screen stuff came back at 1 in like 3500 and so when you half it b/c of the echogenic focus it was like 1 in 1700). I had the level II ultra sound and the doctor measured everything and looked the baby over from head to toe and saw absolutely no signs of anything that would indicate down syndrome. The echogenic focus does not mean there is any type of heart defect. As someone else said it usually goes away on its own and is not present in future ultrasounds. The doctor who did the level II made my husband and I feel very comfortable that everything looked good with our little girl. Without wanting to get herself into liability issues- she basically was like - she does not have downs. So we decided not to have an ammio b/c we were afraid of something happening. But I will say - that despite our decision not to have an amnio I was conflicted a lot. Most of the time I was fine and knew the baby would be ok. But other times I would worry a lot and it would creep in and get me anxious. Of course she turned out perfect. But I think that if it happens again, I would do an amnio. I think just knowing would be helpful. Plus, I think the rate of miscarriage due to amnios is exaggerated. After being in labor for many hours and pushing, I ended up having a c-section and had to have general anastisia (spelling!) so when I woke up my first question was - is she really a girl and is she ok? I know from how worried I was to ask that question - that next time I would do the amnio. Good luck. I am sure that if this is the only thing - your daughter will be fine!!!

I also had to have this done when they found a white spot on my baby's heart. I was so worried for weeks until the ultrasound was done. My doc also told me she saw this at least 3 times a week and of all the cases she had NONE of the babies were born with Down Syndrome. Turns out the white spot on my baby's heart was a calcium deposit which is usually gone by the time the baby's born. My baby boy is now 4 weeks old and is a healthy and beautiful baby. I know its hard and you will probably worry anyway (what mom wouldn't) but like someone previously said, my doc said the finding are usually normal and that they feel like they shouldn't even worry moms by telling them but because of law suits and such they have to. Good luck to you and your baby.

I wanted to share with you that a family friend had an amnio last year and it caused her to loose the baby.
There are so many concerns about amnios that are noted and I did not think much of them during my own prencnacies as I did not need to have one. My mom had one 20+ years ago and it faired fine. However, it was determined afterwards that our friend's loss was due to the amnio. So, I wanted to forward the information because I never have heard of it actually happening (but was a noted risk) and I thought I had to let you know in honor of this little one lossed.
Educate and ask questions. It is best and helpful!

With my first pregnancy we had an echogenic bowel. The bright spot was on the bowel, not the heart. We went through the whole process of getting a level two ultrasound and talking to a genetic counselor. We learned about the statistics and had some blood tests done to rule out other possibilities. We were told there was a possibility of cystic fibrosis, but I had tested negative for that. The level two ultrasound confirmed the findings, but we decided not to have the amnio as we would not have done anything about it if we did learn of a genetic disorder. We decided that the risk outweighed the advantages in our case. I am happy to say that the spot went away on its own later on in the pregnancy and my son was born healthy. So, sometimes these things just happen and they don't mean anything, sometimes they do. I found it valuable to talk to the genetic counselor, but I think it's also important to keep things in perspective. These days there is a lot of information out there and I think sometimes we let ourselves worry about every little possibility. I hope that you have the same luck that we had and that your baby girl arrives perfectly healthy!

I know you got a lot of amazingly awesome responses but I wanted to tell you that something similar happened to my best friend. She was told there was a light spot on the heart at her 18 week ultrasound, but her doctor isn't worried about it because, like others said, these spots tend to disappear by birth and are caused by many reasons, many of which have nothing to do with genetic abnormalities. Since my friend's genetic screening results were fine, there doesn't seem to be a reason for her to worry. It sounds like that is your situation too. I really agree with the posts who said with today's technology, every little thing can be seen and is reported due to malpractice, and so many of these "issues" are not problems at all! Hang in there and good luck with the rest of your pregnancy. I'm sure all is well!

I only read a few of the other replies so I'm sure I'm relaying some of the other moms posts. I had the same thing come up with my second child when I was 30. The doctor who told us was very laid back about it and said it was a chance but with my age the odds were low. We decided to not do any further testing and wait until the baby was born because we were going to continue with the pregnancy anyway. I'm not one to worry and I actually forgot all about it until that moment when she was born when I asked.... and she was a beautiful healthy girl!!
I just thought I would pass on that there are happy endings and I wish you all the best.

First of all, I have a 16 year old daughter with Down Syndrome. She was born when I was 32 years old. I had all the regular testing suggested at the time, and we were not aware that she had Down Syndrome until she was born. She is my second child. When I was pregnant with my 3rd child, I did have an amnio. The procedure itself was fairly simple, and she was fine. I did not have any complications from having the amnio, and the discomfort was minimal.

I know you say you do not really want to have the amnio as you would not change what is, but there are some genetic disorders that would suggest that natural birth might harm the baby further. In babies with spinabifida, some have an opening in the spine and the spine is exposed. If you were to deliver natural, the baby could be harmed by the process. I think you need to do exactly what you are doing, becoming well educated about the procedures, etc. You need to trust your heart, but you also need to trust your doctor.

When My sister-in-law was pregnant with her 2nd child, the AFP test came back very low which suggested Down Syndrome. Keep in mind her daughter is 18 now. The AFP at the time was only double screened not triple screened, and the test itself was not really designed to show Down Syndrome. She had the amnio, and the results of that showed that the baby was okay, and she was fine. Test have come a long way, I am sure, and they have new tests that they didn't have when my daughter was born.

Genetic disorders are not all hereditary. When I had Kristen, I went to a geneticist in Boston. He indicated that her having Down Syndrome was a "fluke." He indicated that, at that time, they had not confirmed that it was hereditary.

I think you need to try to stay calm and positive. Go through the tests you feel are appropriate for you. You also need to get your rest. Having a full-time job and a 16 month old baby with one on the way, you need to make sure you are taking time for yourself, especially with this added worry and stress. Best of luck.

I have the same issue...im 27 and preg. with my fifth child...they found this "spot" and did two ultra sounds..its still there but i passed my triple screen test and i have no other genetic factors in my family....iwould say dont do the amnio....why? i would almost bet your babies fine and if your child should have downs? thats your child no matter what and why risk losing him/her.....just my opinion :) Im right there with you though...its hard not having a clue about what "may " or "may not" being going with your baby... Take care...it would be intersting to know someone else whos had a healthy baby after all this...im due june...you?

I had this happen with my first pregnancy. My AFP test result was positive (they said I had the same risk as a 35 year old woman even though I was only 22 at the time) so we went for several Level II ultrasounds and then they saw the spots on her heart. We had an amnio and had a fetal echocardiogram at Children's Hospital in Boston. There were no problems or complications as a result of the amnio - it was done at Brigham and Women's in Boston where they are VERY skilled at these types of procedures. It turned out that there was no Down's syndrome, but she did have ventricular septal defect - 4 small holes in the ventricle walls of the heart. These holes were small and now at 8 years old they have mostly all closed on their own and they have never caused her any problems whatsoever; she did not require surgery.

With my son, I did one Level II ultrasound, did not do the AFP test, did not do an amnio. I felt as you say that even if there was something wrong, I would not terminate the pregnancy so there was no point in putting myself through all that stress. As far as that issue is concerned, you have to go with your gut and do what you feel is best for you and your family.

C.,

I know getting results like this is stressful and I'm sorry for what you are going thru. For us it was echogenic bowel. Basically the bowels showed up on the ultrasound as brightly as a bone does. This is an indicator for Down's or spinabifida. Since I'm over 35 I had the early risk assessment test done at 13 weeks and got great results. So I thought I was in the clear but to get this news at the 18 week ultrasound just made me cry. We too wouldn't have terminated our pregnancy regardless of the results. However we did choose to do the amnio because we don't have any family in the immidiate area and wanted to set up a support network in the area in case we were dealing with either condition. I figured if the baby had an issue I was better off knowing before hand so I could find families dealing with that condition. I could talk to them and hopefully be able to use them for support and guidence. I had so many questions, like "would I still be able to nurse" and things like that.
We got lucky. Our amnio came back negative but I'm still happy we found out just in case I needed to start my research. I guess the decision to find out with the amnio depends on whether you really want to know ahead of time or not. As for the actually amnio. Mine didn't hurt while it was going on but I did cramp the next 2 days so I stayed home and rested with my feet up. After that no issues.

Good luck and God bless,
L. M

Oh my C., you certainly have been dumped a load on your plate.
I cannot offer you any sort of medical advice as I have no knowledge to share in that area.
I responded to your letter because I am an old lady with seven children and have been through countless crisis in the past 60 years.
You are distressed and I can respond to that.
Are you a believer? Do you have family close by? A support system is so important when one is in such a situation.
The church family can be as much , if not more , supportive as relatives. And God is such a source of comfort and peace and strength in these sorts of times.
Ok, let's assume you are pretty much on your own.
Here is my prescription for dealing with situations.
One , DO NOT ASSUME....one and a half, do not worry.
Deal with what you know, what doc has said and do not elaborate.
You can cope one step at a time.
Right now they have a spot. What that spot can be is anyones guess right now. SO you have a spot . That at this point in time is the ONLY thing known.
You are young, you are healthy, you have a healthy child, you are negative for Downs.
These are good, positive things. You do NOT need to get yourself in a terrible state of stress and bother over unknown quantities, yes?
You say you will not terminate no matter what ( and GOOD FOR YOU) so if the prognosis is Down's it is not an issue other than caring for the child .And at this point in time, you do not KNOW this is even in the cards.
SO what you are left with is a spot. There is no sense wasting your time and wellbeing worrying about what the spot is, wether it will be there two weeks from now, what it could mean. These are questions to be answered as they are determined.
Each time the concern and worry pops up, tell yourself , we have a spot, thats all. Could have been a spot on the monitor. They named it an echogenic focus. After you see the specialist and he/she does the 3D thingy, then you will have more knowledge to deal with. But you dont right now.
Take this one little bit at a time as you are directed by your doctor honey. Keep your spirits up and your mind at peace. You CAN deal with it one step at a time if you remind yourself to deal only with what is known.
Keep your imagination under control and focus.
You have yourself, a husband , and a child to care for. YOu need to keep enough of yourself to tend you , then the others.
No matter what C., all you have do deal with now is a spot of undetermined origin. Leave it at that .
When they tell you more, you can handle it. Only that. Do not let your mind run wild with possibilities. That merry-go-round of dread is not a good place to ride.
You need to be as calm and peaceful as you can be for everyone's sake, especially the little one not yet born.
I will be praying for your little family.
Take care of you , best wishes and God bless
Grandmother Lowell

Our son had multiple spots and I was 33 with no family factors. I did have the amnio and had no problems with it. He is perfectly fine. You have to go with your gut, but all research we did said many children have this and it typically resolves itself in a matter of months! It was stressful for us - but in the end we elected for the testing. Good luck!!

Hi there. I don't know how helpful i can be as I don't have my notes in front of me but when I was pregnant with my first child, we actually had three "soft signs" of a genetic disorder and of course, went through some of this craziness. I believe one was the spot in the heart, one was in the bowel and I am at a loss for the other. It was during my 20 week ultrasound that it was noticed. I was 31 and as a result, went through a more indepth ultrasound. My 12 week tests were great so this was all a surprise. After the indepth ultrasound, the results looked good but we still did an amnio to ease our mind. We ended up having a healthy girl and thankfully didn't have any of these issues with my second daughter. Sorry I don't have more specifics but it was about 4 years ago. Good luck!

YES, this was the case in my pregnancy as well. They also found an echogenic focus in my daughter's heart, and this was after the initial bloodwork that rated her chances to be statistically low for having Down syndrome. Like you, I also researched everything I could about it, and I asked many questions of my midwife and obgyn. Here's the thing- when they gave me the news, they said that it is actually debated these days about whether to inform parents, but that at this time they have to report these findings due to liability issues. Diagnostic technology has improved so much in recent years that they simply are able to get more details these days- and these findings are a whole lot more common in the general population than previously thought. I was told that in the absence of any other signs (blood tests, nuchal fold thickness), they usually mean nothing, and most likely that focus won't even be there if they do another ultrasound later in the pregnancy. Such was the case with us- it disappeared on a follow-up ultrasound late in my last trimester. We have a beautiful, healthy daughter who meets and even exceeds her developmental milestones. I'm writing all of this to tell you what I wish someone had explicitly told me at the time, especially considering that I also shared the same view as you upon the outcome (that I would keep the child no matter whether Down's or not)- DON'T WORRY ABOUT IT. I do regret the time I spent worrying about it. Make sure that you fully understand the risks vs benefits of every single procedure that is recommended, and if you are still not clear on something, ask again, and again, and get a second opinion if necessary. And just don't let yourself get railroaded down a path of further intervention, if it does not clearly benefit you or the baby. I am a healthcare professional, and yet I felt overwhelmed, and very uninformed at times when recommendations for further procedures kept coming up. On the other hand, I remember feeling a little jealous of my colleague who had an early amnio,and was able to rest assured that everything was ok with her baby- while I had to wait...
Go with your gut and remember that the odds are overwhelmingly in your favor that everything is just fine with that baby, whether there is a focus there or not right now.

I wouldn't do the amniocentesis. If you know you aren't going to terminate, then you are taking a chance on miscarrying by doing the amnio, for no real reason. It may be nothing at all - I work with special needs infants and toddlers, and you wouldn't believe how wrong these tests are much of the time. Not saying yours is wrong or right, but not worth risking your baby's life.

I am sorry if I am duplicating because I don't have time to read all the other responses. I just wanted to write to reassure you that in all likelihood things are fine. I had this finding with my second child in '07. The news was poorly delivered by the doctor who was unfamiliar to me. I was over 35 so it was made into an even bigger concern. I chose not to have an amnio because of the risks and because I too would not have terminated. My husband and I spent a lot of time worrying about it though. The stress was significant. We had not been expecting such a turn of events because we flew through all testing with my first born. My little boy has not a thing wrong with him. I have been told by others in the field that the Echogenic focus is such a poor marker of anything that there is controversy about whether it should even be mentioned to the parents as a "finding" at all. It does not indicate anything wrong with the heart (i.e. it is not a heart defect), it is simply thought to sometimes correlate with other problems like Downs, but again it is such a poor indicator (i.e. it rarely actually means there is a problem, particularly if there are no other signs of a problem) that you can be almost certain that there isn't a problem. I hope that you can put your worries aside and enjoy the remainder of your pregnancy and a smooth birth.
Congratulations and best of luck to you.

C.,

My family and I have been going through this for the past few weeks. The doctor found an echogenic focus on our baby's heart on Dec. 10. They told us the next step is a level 2 ultrasound at Tufts Boston. We went on 12/22. The doctor confirmed that she did see the focus. She looked at our records from the blood test. Those indicated that the risk for Down's was 1/5000. They also looked for other indicators of Downs: they looked at his profile and measured the length of his leg and arm bones. These are stronger indicators of Downs. Because the risk of miscarriage with an amnio is 1/300, she reccommended that we not do that. Our doctor says that this echogenic focus is something that they see in their practice all of the time. He said that in 30 years he has never seen somone with a good blood test risk for Down's and just and echogenic focus have a Down's baby.
Sorry for the long e-mail. I just thought more detail on the very recent process may be comforting.

I have not been through this particular scenario myself, but I empathize with you. I do know that ob/gyn malpractice insurance is among the highest since they are the most often sued (babies born with problems, must be obs fault). Therefore, for their own protection they must recommend all this testing. Be upfront with your ob. Ask them what the purpose of the testing is and if they find something can they fix it. If not, ask what the point of having the test is if "I am going to have this baby no matter what." In most cases they will say there is no point and may have you sign a waiver saying you refused the test.

Good luck!

I also had this and found it is more common than I thought. I'm 33, and had no other markers so my chances of DS were 1% or less. When we went for the level 2, we met with a genetic counselor, and the high risk doc is the one that read the ultrasound. He was looking for if the white spot was as bright as bone, or not as bright as bone. If it was as bright as bone in his opinion, it was more likely calcium deposits, which is found in women with babies who have DS... but doesn't mean that you DO have one... it would just give you option to test further or prep yourself in case that was what the case was. My midwife reassured me that in most cases, it's nothing, but they must follow up. After waiting 4 weeks for my level 2, they told me they felt it was not as bright as bone, and was a normal variant, such as someone having freckles, or not having freckles. I hope that helps you feel more calm about it... it's just another stressor we do not need, but it's good that they are on top of those things.

Hi C., I just went thru a similat thing. I am 21 weeks and echogenic bowel was highlighted, which also carries a marker for Downs and Cystic Fibrosis. I just had the 3d this week and they said everything was fine and blood tests fine. They told me that it comes up alot and 2/3 of the time it is nothing, and of the last 3rd, only 30% carry any actual results. I studied it myself and found that this is a very inaccurate marker for genetic problems, which my doctors aggreed with. Good luck!!