Hugs. I think there was someone else around here with a similar issue and their child was born fine, no issues. Is it too late for a blood test like Harmony?
The odds are however are totally in your favor. Most doctors are only worried about echogenic focuses on the heart if there are other abnormalities present. Echogenic focuses happen on their own all the time, but are most often considered only worrisome if there are other issues present.
Echogenic focuses alone mean nothing alone but are a side result of other things if other things are present. It's complicated, but I would try not to worry. Also, even with other concerns present most doctors aren't even worried about a focus.
DD had a focus on her heart. She's fine at 4. DS had one on his kidneys. He's great. My first had one on her heart and was stillborn but she had 4245245 other things wrong as well. So much so the doctors weren't even worried about it. I say that not to freak you out more, but to tell you it'll be fine.
I just had the exact same thing. My doctor did a dna blood test and everything came back fine. It takes about a week for the results, but they do test for everything. Everything was fine with our testing.
Ditto what Dairy said. My DD has 2 in her heart that were present throughout my whole pregnancy (sometimes they disappear). None of my doctors were concerned at all since there were no other abnormalities present. I did have a M21 blood test done which reassured me and is another option rather than an amnio. I had the test done because of my age though, not the focus.
I would ask for a blood test of it will give you peace of mind to prepare for a child with a chromosomal abnormality, but I wouldn't be surprised to hear your doctor downplay it. Without other markers, it really doesn't mean a lot.
I'm sorry you're stressed though. We had issues with our first a/s and the pictures of Rs heart. We went back around 30 weeks because that would provide a clearer picture and all was fine. H and I were both a mess though, waiting and worrying.
At our 20 wk ultrasound we saw extra fluid on both kidneys, which also increased the chances of downs. They offered me the materniti21 test, which is just a blood draw. You should ask about it asap because I believe there's a window of time where you can do it. it sounds like overall chances are good that there is nothing wrong.
My DS had it at his 20 week ultrasound and everything was FINE. I was offered MaterniT21 because I also tested higher risk on the initial blood test as well. Everything came back perfect with the blood test.
My BFF also saw this at her 20 week and all they did was do another ultrasound later and it was gone- and her DD was fine too.
From what the MFM doctor told me, this is very common and almost always means nothing. In my frantic googling, I found ONE article that loosely linked it to DS, which is why I think they "have" to tell you it is a soft marker (mostly a cover your ass situation).
Please don't worry! I was stressed too, so I know how much it sucks.
Thanks everyone. I was kind of thrown by it and didn't even think to ask about what specific genetic testing she was talking about. Googling mentioned the amnio, but I really need to ask the doctor about those options.
I do appreciate the positive-outcome anecdotes
Definitely ask for a blood test over an amnio. I would be surprised if they even offered an amnio unless you had other markers present.
Definitely do a blood test if you decide to test more. That was not an option for me 6 years so I had to go straight to amnio. It was fine and I survived but I wouldn't suggest it unless you're super concerned. I'm still traumatized about it to this day moreso than the L&D of my 3 kids.
It's not easy. I know you know that and will make the best decision. I just won't someone to tell you it's your best/easiest option because it isn't at all.
And trust your dr. if he/she isn't worried, I wouldn't be either. IME most are pretty great about telling you what to do and why.
Hugs, it's so hard to go through this! Our baby was found to have hydronephrosis at the a/s, which is also a soft marker for DS. Because we were low risk on cffDNA they did not offer amnio. I'd see if one of those tests are still available for the peace of mind. Check with your insurance company on their preferred lab or ask for one with zero or low balance billing.
Post by carolinagirl831 on Oct 9, 2015 11:36:12 GMT -5
My dd 1 had that at her 20 week U/s. We had another more extensive U/s just to check. They said not to worry based on our NT scan and no other markers. It is nice they can check things extenvively, but nothing like worrying you! hang in there She was perfectly fine!
Oh and another note - My insurance didn't cover the MaterniT21, but I called and negotiated the bill down to about $300 and it was totally worth every penny.
Post by badtzmaru22 on Oct 9, 2015 12:02:31 GMT -5
Try not to worry. I know how stressful it can be though. DS had an echogenic focus on his left ventricle, and a choriod plexus cyst, which are both soft markers for a few abnormalities. I had already done an NT scan which came back low risk, and after these were found, I did the verifi test, which was clear, and DS was fine.
Whether or not I had opted to do the verifi, they would have had me back in a few weeks for a follow up u/s, and neither marker was there anymore.
Good luck!! Chances are it's no big deal. I even read a study that debated whether or not parents should even be told if these soft markers are seen, because it's more likely to cause the mother anxiety over nothing than actually be something.
Post by somersault72 on Oct 9, 2015 12:10:52 GMT -5
It's hard, but try not to worry. I'd try to get the MaterniT21 to ease your mind. I see these echogenic foci pretty darn often, but I can't think of a single time there's been a bad outcome.
Post by sunshine608 on Oct 9, 2015 12:18:22 GMT -5
Ds had this another marker ( fluid on his kidneys). We did the Materni 21 test and an U/S a week or so later and the heart issues was gone and kidney resolved by 24 weeks.
Your OB saying this an issue in U/S of skinny women is interesting.
Ds had this another marker ( fluid on his kidneys). We did the Materni 21 test and an U/S a week or so later and the heart issues was gone and kidney resolved by 24 weeks.
Your OB saying this an issue in U/S of skinny women is interesting.
DS1 also had enlarged kidneys (another soft marker). Materniti21 and Harmony were not available when I was pregnant with him 8 years ago, and we opted against an amnio since it was just the one soft marker. We had a follow up U/S a few weeks later and all was fine.
I would do a blood test if possible and ask about a follow up U/S, but I would assume everything is very likely just fine.
They discovered this with DS at the 20 week U/S. The OB said it was likely nothing as it was the only marker present, but sent us to a Level 2 U/S to get a better look.
They did the scan and a genetic counselor came in, which freaked me out. All the counselor had to say was that they couldn't 100% guarantee it wasn't Downs (because they have to cover their ass), but it was very, very unlikely. I asked about an amnio, but they strongly discouraged it as all other measurements, family history and blood work were fine, so our chances of DS was still very low with that one, soft marker.
I mostly put it out of my mind for the rest of the pregnancy. DS is almost 2 and totally healthy. ((Hugs))
@cookiemonster03 and others that did blood tests - are they all just probabilities or do you get definitive results?
I received a probability from the Panorama test - 1/19 chance of a particular chromosomal abnormality when it should have come out to 1/4000 chance or so. It wasn't technically a "positive" but I did opt for the amnio after that because the chances were too high for my comfort, and the abnormality was confirmed.
My experiences (both times) with the amnio was fine and not as bad as I expected at all, but I'd opt for the blood test in case it comes back with low chances of any issues. Then if it comes back fine, great, nothing invasive would be on the table and you could breathe a little easier.
I hope everything is fine. I know my situation wasn't fine but most end up being fine, and as others said, soft markers often do mean nothing.
Try not to worry. They found exactly the same thing in my daughter's Anatomy Scan. She's 100% perfect.
I totally freaked when it happened and read a lot about it. It usually means nothing. It's a soft marker for Down Syndrome, but if there are no other markers present you shouldn't worry.
In our case we did the Verifi test and it came back low risk. That reassured me a lot at the time, but the two wreks waiting for the results were awful.
They found the same thing when they did a scan of my now 4.5 year old DS. A doctor came in looking very serious and told me that it nearly doubled my chances of having a child with Down Syndrome. I was 38 at the time so I already thought my odds were high and I was freaked. When I asked what my odds were he said 1.2% and I was like WHAT? I only have about a 1 in 100 chance of having a child with Down Syndrome? That's nothing, I'm good, no testing, thanks a lot. I am someone who is greatly comforted by statistics, so that made me feel better. Further googling told me that it's the least significant marker for Down Syndrome and is usually seen in conjunction with other markers if a child has DS.