High-Risk Pregnancy

Very Concerned Mother with Sonograph Finding. EIF. Any others with advice??

Hello All,
     I had my 21 week ultrasound last Wednesday. The doctor reviewed my pictures and showed us a echogenic intracardiac focus found in the heart. It is linked with Down Syndrome and doubles your chance of a Down Syndrome baby. There was no other signs of downs (Nuchal translucency, missing nasal bone, dilated kidneys, or fluid around the bowels). It was just this isolated variant that was found. The doctor then asked if we were interested in further testing. My husband and I both agreed for immediate testing, so the doctor had us do the Materni21 test. It is a blood test that filters out baby's blood from mine and tests its genetic contents for abnormalities. Bad part is, it takes two weeks to find out the results.
     My question is for all of you. Have any of you had this happen, and if so, how many of you did indeed give birth to a Downs baby. My husband and I plan on keeping the baby regardless, but we are mentally preparing for a life changing event. 
     Any info in this would be GREATLY appreciated. Until we find out in two weeks, I have been worried sick. 

Re: Very Concerned Mother with Sonograph Finding. EIF. Any others with advice??

  • Try not to worry. Did you see a genetic counselor? We had EIF & a slightly dilated kidney, along with a two vessel cord. All of these things are linked to a higher incidence of down syndrome, but still many, many more babies are born healthy with all of these soft markers than those born with DS. Even with multiple markers, our odds of having a healthy baby is still 99.8%. When you think about it, do you let those odds worry you in real life activities? Do you refuse to ride in a car because of the (much higher) risk of getting in an accident? For us, it wasn't something to dwell on. Our baby is due in a few weeks, so I guess we'll find out for sure then, but whatever happens happens. We are blessed either way. :)

    I hope you can find some peace in your wait.
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  • My understanding is that more recently the thoughts on EIF from recent studies is that without other ultrasound findings, AMA, or abnormal 1st tri/2nd tri screening it is not thought to increase risk for chromosomal abnormalities. Was there another red flag at all in your testing or age? You might consider posting on 2nd tri as well as there may be more women there with false positives and reassuring stories. So sorry you're facing this. Sounds very stressful. Hoping you get reassuring news very soon!
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  • I had an appointment about a week and a half ago at 18 weeks and the doctor noticed this on my daughters heart as well. We have our anatomy scan this Friday where he will take a closer look. He actually told me this is a very, very soft marker for Down syndrome and that many people have it today and are walking around just fine. There is also a higher chance of having eif in Asians, my husband is Korean. Keeping my fingers crossed til Friday when he can look again and we will know results from second tri blood work.
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  • Thanks for the feedback. It was my only marker found. Everything else was normal. I'm 28 years old as well, which doesn't put me at any additional risk for Down's, but I know anything is possible. Still waiting for my Materni21 results which I should have by next Wednesday. 
  • My baby's heart also has this. It was discovered at my 20 week ultrasound, but no other markers, hard or soft, were found here or at 12 weeks. I already took the Harmony test, since I'm AMA, and it said negative for T21 (as well as T18 + 13). So I guess it's nothing.
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  • haziedaze said:

    My understanding is that more recently the thoughts on EIF from recent studies is that without other ultrasound findings, AMA, or abnormal 1st tri/2nd tri screening it is not thought to increase risk for chromosomal abnormalities. Was there another red flag at all in your testing or age? You might consider posting on 2nd tri as well as there may be more women there with false positives and reassuring stories. So sorry you're facing this. Sounds very stressful. Hoping you get reassuring news very soon!

    This. My daughter had an EIF and does not have DS. The doctor told me to not spend one second worrying about it in the absence of other markers.

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  • Update: Had my little guy on the 25th and he is completely healthy and perfect. :) I'm sad how much I worried this pregnancy (despite trying not to) for a perfectly healthy baby. Best wishes for your results!
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  • We had our Level II ultrasound last week and they found an EIF on baby as well.  We had no other markers and according to the doctor everything looked 'perfect' and they would not even check the EIF again on ultrasound.  I was still pretty concerned after doing a little more research, but I have to default to trusting the doctor and if she is not worried, I am not going to worry!
  • My quad screen came back with a higher chance of ds so we had sonogram which showed an eif it up the chances even more for ds. I had harmony 21 test and my baby is perfect no ds or other genetic disorders. But I was told that just a eif is not enough to warrant further testing so if everything else was fine an eif is nothing to bat an eye at. Good luck
  • Thanks all for the replies. The results came back negative!!
  • I'm an ultrasound tech at a high risk OB/GYN clinic. An intracardiac echogenic focus CAN be associated with such anomalies, but if found in isolation (no other findings) it's usually benign. I see them all the time, and most of the time, the docs are not concerned. Try not to stress, I hope all will come back normal.
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