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Concerned mother with ultrasound finding: EIF Any other's with same experience? Outcomes??

Amazonwonder13Amazonwonder13 member
in 2nd Trimester
Hello All,
     I originally had this post in "High Risk" disscussion, and someone told me to try it here to see if any other parents have had this happen and what were the results. 
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. 
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Re: Concerned mother with ultrasound finding: EIF Any other's with same experience? Outcomes??

  • lisa1110lisa1110 member
    Hello, I just had this exact situation happen to me. I'm 34, and had the first tri blood test and my risk was something like 1 in 3200 - I thought it was not something to worry about. I went in about 2 weeks ago and had only the EIF marker, nothing else. The options were do nothing, get an amnio, or take the Verifi test (similar to materni21). Long story short, I declined the amnio, and the genetics counselor thought my chart said I denied all testing. So I not so patiently waited for an appt last Wednesday. I got the test results today (Verifi is supposed to be the quickest apparently). Everything came back negative with a pretty decent accuracy rate. Just as an FYI from my discussions 3-4% of babies have an EIF and around 15% of babies with Down syndrome have an EIF. My doctor who is head of labor and delivery at a big boston hospital wasn't concerned in the slightest and didn't feel it necessary to get additional testing except to ease my anxiety, so please try not to worry.
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  • Pinkmom19Pinkmom19 member
    Our fourth daughter had an EIF at the 20 week scan. I had to look up what it was because my doc never even mentioned downs. He sent us to a neonatal cardiologist for further screening and we were told that it would most likely resolve before birth - which it did.

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  • Amazonwonder13Amazonwonder13 member
         Thank you so much for sharing all your stories. YOu have all made me feel a little better. Not that I have anything against Dowsn's children, it is just a whole other slice of cake when it's talking about having one of your own. Worrying about the life they will have, how it will effect your current family. I have a three year old daughter who is amazing in every way. I often think how she would handle things. Just a whole lot of thoughts.
        So again, thank you for sharing. I have about another week wait on my genetic blood testing results. I pray, either way, that things will be okay. 
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  • EmpireceoEmpireceo member
    I had this with DS as well as an elevated quad screen. DS was born without Down's Syndrome. Good luck with your test results!
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  • lowerygirllowerygirl member
    OP, where did you get your information that having an EIF (and only and EIF) "doubles" the risk of DS? You have been given false information. My baby has an EIF with no other markers and the high risk doctor I see said these are so common that she normally doesn't even tell the parents about it. Most babies have this (and even more adults who don't even know they have one, have one).
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  • yllwstrbrstyllwstrbrst member
    My midwife mentioned that my little girl's ultrasound also had EIF. She said that it was fairly common and since no other markers were found, cause for concern was minimal. I opted not to have any additional testing because it would not change any decision on my part and I have complete faith that everything is fine. I am sharing this so you know that it is common and many pregnant women are in the same boat as you. Good luck!!!
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  • AKbadwolfAKbadwolf member
    kitchencolors said:
    AKbadwolf said:

    I think you have gotten a lot of great advice.  I just want to let you know one thing about your post that some may take as insulting.  The baby wouldn't be a downs baby.  It would be a baby with Downs Syndrome.    There is a big push on person first language.  It is better to identify the person first, then the syndrome.  For myself, I have a son with Autism, not an autistic son. 

    Thanks!

    If we're going to go super correct, in the US it would be "baby with Down syndrome".  Person first, capital D, no possessive, no capital on the word syndrome.  

    I usually give scarred moms who haven't had time to do research because they've been blindsided a free pass on the language as long as it's not grossly inappropriate, FWIW.

    Hence the reason I didn't slam her.  I was just passing on information.  It is never too early to be informed. 

    13 yr old boy with ASD, ADHD and PICA, 11 yr old boy, 3 yr old Girl, & baby Girl.

    imageimage

     

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  • Amazonwonder13Amazonwonder13 member
    Thank you all for the replies!. I got my results in and it was negative for Trisomy 13 and 21 or any other genetic abnormality. 
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