echogenic intracardiac focus

laumol78

So i had an ultrasound done yesterday and they found something that is causing me great worry. An echogenic intracardiac focus. I had never even heard of this and now it's all I'm thinking about. I'm 35 so I'd had genetic testing done already and my odds for chromosomal abnormalities and downs were very low. So the dr explains to me that what this finding is has no affect on the babys heart but it CAN be a soft marker for downs. I got really upset. The Dr said he's not worried and I should not worry either, but how can I not? he said everything else is fine and with the testing I had he's confident. I was still worried today and call and spoke with a nurse. She also said I shouldnt worry. She thinks that soon this genetic blood test i had will take the place of amnios since they are 99%. No one seems to think I should have an amnio, but the option is there. I'm not sure what the point of the amnio would be since I already did the genetic tests (verify or harmony, forget which one). I'm just so frustrated. I've been reading about this and there are many mixed reviews. Some researchers think it's a soft marker, some think it isn't. 

What i want to know is, who are these people who seem to find out for certain they are having baby with downs and terminate the pregnancy? Not trying to offend anyone, but how do some people know for sure they are having a downs baby to the point where they terminate? seems like nothing is ever certain. 

djtippietoes

I'm sorry you're going through this.  Finding out that anything could be wrong is scary.  I hope it all turns out okay. 

As for your question, I assume that the people you are asking about got a positive on either the genetic blood test or an amnio.  I think that finding out the baby has one of the trisomies from a positive test (and I'm not talking about the screening) is much more certain then being in the 1% who the test might be wrong for.  And as far as I know, an amnio is conclusive so if they got a positive on that, they'd pretty much know for sure.

bossyfnp

I was told that I had a small white spot on my LO's heart on my u/s. The MD said not to worry about it since other tests came back negative. Ive had about 10 us since and the spot has disappeared.

Nicolewinsbingo

We also have an echogenic focus, along with a couple other soft markers for downs.  This is what they told me.  With just an echogenic focus, your odds of down syndrome do not change at all.  It is an "extremely wimpy" indicator of downs…as in most babies who have an echogenic focus do not have downs, and most kids with downs do not have an echogenic focus on their ultrasound…there is just a slightly higher rate of kids with downs who did have an echogenic focus on their ultrasound.  They only make note of the echogenic focus because if you have that in addition to other markers, then you may have a higher rate of downs.  

When they did my first A/S, they only saw the focus and I was told I had no higher chance of chromosomal abnormalities.  Then my provider realized she didn't see a note on the ultrasound about a 2 vessel cord which CAN be a marker for downs, but again, isn't a marker by itself.  This was enough for them to send me to higher level ultrasound.  They found that one of my baby's kidneys also has a little extra fluid in it, which again, can be a "wimpy indicator" for downs.  Even with THREE markers for me, my odds only increased to 1 in 500…that is a 99.8% chance that my baby does not have downs syndrome…roughly what the general population faces.  We declined an amnio.  It does not make any sense to me to risk the 1 in 500 chance of miscarriage or 1 in 200 chance of preterm labor for a baby that only has a 1 in 500 chance of downs in the first place!  

If I was you, I really would not worry.  It is not healthy for you or the baby.  Your odds are not increased of having a baby with downs with just an echogenic focus.  It is not a birth defect.  It will not permanently affect your baby's heart.  You already had the harmony test and got good results, so at this point you should just try to relax…and enjoy your healthy pregnancy!

laumol78

Thanks. I've only found out yesterday and it's been a roller coaster. One minute i feel confident that things are ok, the next minute I'm crying. I looked at his 3-d ultrasound picture and cried. He's my baby no matter what but I want him to be ok. I'm just so confused. The verifi test i had was good, the NT scan was normal, nothing else came up on this U/S except the EFI, but there is so much information on this one marker. If it doesn't really matter then why is it a marker at all. I just wish the Dr's didnt tell me about this. I'm feeling like I did something wrong during the pregnancy to cause this to happen to the baby's heart. 

bossyfnp

Its good to be informed but you need to step away from google for a minute. It'll drive you crazy and everybody situation is different

Wally3

DS2 had 3 or 4 soft markers and I was AMA.  I had the MartiniT21 blood test that came back negetive.  After speaking with my MFM she was very confindent that the blood test was accurate.  They way she explained it is that if you are high risk the precentage of false positive / flase negetives goes down.  I'm not sure of all the math behind it. 

laumol78

well i spoke with my sister in law who had the same exact finding on her U/S 4 weeks ago. I'm feeling a bit better after talking it over with her. She said the dr also did not seem worried. She went back and the spot was gone. So stressful