20 Week Ultrasound Showed an Echogenic Focus on the Baby's Heart

Updated on March 01, 2016
M.S. asks from Glen Head, NY
13 answers

Hi All,
I am 34 years old and I had a 20 week ultrasound which showed an echogenic focus (bright spot) on the baby's heart. I have read that this can be a "soft marker" for Down Syndrome. At 12 weeks I had the Panorama blood test which showed I am low risk for Trisomy 13, 18 and 21 (Down Syndrome). My AFP blood test results were also low risk, as well as my ultrascreen which looks at the baby's neck. My OB doesn't seem too concerned, but of course I am!! I could have an amnio, but there are risks. I can also have a quad screen which I read evaluates 4 substances in the blood, which may be more comprehensive than the Panorama test I had. I asked my OB about it an he said the Panorama test is actually more definite than the quad screen....which is different than what I read online! I am confused......has anyone experienced this? Thank you!!!!

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J.C.

answers from New York on

Are you seeing a specialist? Either a neonatologist or a Maternal/Fetal specialist? They will provide you with lots of answers.

My ultrasounds showed a soft marker for Down's - Chroid Plexis Cysts -and my Maternal fetal specialist tried very heard to keep my worrying at bay. And she was right - all was well.

Good luck to you and hang in there!

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J.B.

answers from Boston on

Yes, when I was pregnant with twins as a surrogate. We had the quad screen done whenever that is normally done and the odds of the babies having DS came back at 1 in 5,000 (which was actually my lowest risk screen...I had one of my own kids come back at 1 in 250). The bright spot that showed up on the u/s increased that risk to 1 in 2,500. The OB very clearly explained to the parents that comparing this to the odds of 1 in 250 that a amnio would result in miscarriage, that's basically like having 10 pregnancies end unintentionally early before finding one baby with an actual problem.

The spot went away, and the baby was fine. He and his sister are perfectly healthy 6 year olds. False positive soft markers are very common - while this information is good to have when looking at a bunch of higher-risk stats together, in a case like yours and mine and many others where there are no other indications of risk from other screenings, it just causes needless worry.

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J.C.

answers from Philadelphia on

The only way to know for sure is to have the amnio. They are actually very safe when preformed by a perinatologist. I had one that was ultrasound guided so the needle wasn't anywhere near my baby.

I too was scared that it would cause a miscarriage but my OB and Perinatologist assured me it was safe. My baby too had a soft marker for DS. My baby is perfectly healthy. However I know I would not have handled the anxiety of knowing my baby could have a chromosomal abnormality well so for me, I am glad I had the amnio.

Best of luck! The odds are in your favor that your baby is in fact healthy.

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M.F.

answers from Phoenix on

Panorama tests the baby's actual DNA taken from your blood stream. It would tell you 100% whether there were chromosomal anomalies. If they said you were "low risk", take that to mean the baby's chromosomes are normal. Your OB should be able to explain this to you, but you need to trust him/her. If you aren't able to trust your doctor, but find information read online or given to you from strangers on a forum, you need to reassess why you aren't willing to trust your OB.
In regards to the bright spot, my daughter had one and it went away by my 2nd trimester anatomy scan at 24 weeks. I had a low risk of Down's Syndrome from my nuchal translucency screening and my doctor told me it was common and he wasn't worried. We watched to make sure it disappeared, but that is all.

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M.M.

answers from Chicago on

My son had this.
He is a healthy, totally normal 7 yr old today.

At the time, our doctor reassured us that, while it was considered a marker at one point, they don't really use it as such anymore.
At the end of the day, the question becomes...what will do you if it IS positive for Downs? Will you terminate the pregnancy? If the answer is no, then freaking out won't do anything other than upset you. That's where we landed with it.

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D.B.

answers from Boston on

I know you're scared. Let me suggest that "Dr. Google" isn't always your friend - it's a great way to get scared to death. Not all sources are objective anyway, some sources have an agenda, and some are older or more recent than others - so not all articles and blogs are created equal.

I was advised to have an amnio because I was in my late 30s. I considered the risks, and I know you are too. The risks are extremely low, perhaps less than many more months of stress and worry. That's not good for you. And having information is powerful. If the amnio is negative, you'll relax and enjoy the rest of your pregnancy. If it shows a problem, you'll be prepared and able to make decisions/plans.

As always, feel free to get a second opinion! No OB (or any other physician) worth his/her salt will object to that. You collect a pile of information from different tests, scans and so on, and then you get a total picture.

Good luck!

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B.C.

answers from Norfolk on

We had our son when I was 36 and we had the amnio done.
It was easy!
And it was a great relief to find out everything was going just fine!
And we knew for sure we were having a boy!

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M.R.

answers from Washington DC on

It's so easy to become anxious, and all the information docs provide now is overwhelming. If you are low risk for all of those issues tested and the nuchal screening was fine, please, please try not to stress. Chances are so good that soft marker will disappear. I was considered "high risk," my daughter had that same bright spot, her limbs measured short, and they warned me about all kinds of possibilities. They were concerned (aka "informing me") about everything. I stressed way too much. She's an absolutely, perfectly healthy 6 year old. Breathe, keep yourself busy, and try to stay positive. Best of luck, and keep us updated. =)

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A.V.

answers from Washington DC on

IMO, you can get all these tests and still be surprised with something. At this point, I would discuss with your doctor what it might mean. Any test I got I took with the thought that it would give me information but it wasn't going to be the end all be all and it wasn't going to change whether or not I carried the baby. If your risk is low, and the OB isn't worried, then I would try not to worry about it. I would save the amnio test for a greater concern. It has its own risks.

FWIW, my DH asked my OB to tell me not to worry and she said no. I was pregnant I was allowed to worry. ;) Just try not to stress out. Not good for anybody.

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N.Z.

answers from Los Angeles on

I agree with Patty K about the blood test. There is nothing more definitive than the blood test (it tests the fetal DNA that runs through the mother's blood). The only downside is that since you're under 35 and your other tests show that you're low risk, you might need to pay out of pocket.

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P.K.

answers from New York on

My daughter in law was told her chances of a Down Syndrome baby were 1 in 10 based on 20 week scan. Had MaterniT21 blood test. Came back perfect. My little granddsughter is now a 2yo spitfire. Why do amino when there is a blood test.

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D.N.

answers from Chicago on

When I was pregnant with my son I had an ultrasound to see how far I was as I did not know. Turned out 10 wks, 5 days. The neck measure was a bit high. I had the blood work and cvs done. Everything came out fine. But we also did an echo ultrasound. I was not told this until a second one a month and 1/2 later but he also had a brightspot the first time. He is a very healthy 4 yr old--though he does have hemophilia which has nothing whatever to do with the pregnancy and birth-its genetic.
I think you need to relax and not look for problems. If the doc thinks everything is fine, enjoy your pregnancy and the baby when he/she comes.

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S.T.

answers from Washington DC on

sometimes all the information that modern technology offers is counter-productive.
it really sounds as if everything's fine. but it's also silly to think that you WON'T worry. who wouldn't?
listen to your OB. if you don't trust your OB get another one, but i know you know that dr google is going to do nothing but terrify you at this point, right?
and living in a state of terror will affect the baby. many studies are now showing the effects of parental trauma, even that of the father, on the unborn.
you're ultimately the boss of yourself. 'you've read' a lot of scary stuff, so treat yourself like the small child who does still live within, and give yourself firm no-nonsense boundaries. no more googling symptoms, on and on until you're stuffed with the scary ones. ask your OB for literature and studies about your particular fears so that if must read about them you're reading good thoughtful stuff, not just internet whatever.
and do whatever you have to in order to calm yourself down. go for a walk, read your favorite childhood book, go to lunch with your bestie, garden. and most of all, step away from the computer.
khairete
S.

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