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that was... "just getting as FAR as I can..." I never proof read. :)

Hi Peridots, Thank you, it seems like the further along i go in this pregnancy the more uncertain and anxious i become, Hang in there with yours, it's like you just get over one herdle and another begins, thinking about you

Hi All! I found this message board after an ultrasound revealed a single echogenic focus on my baby's heart last week at 18 weeks gestation. I felt really panicked when the dr. told me only 4% of normal children have them in utero, but 30% or so of Downs children have them ( I've since found out that both of these figures are debatable), even though my blood test (even after taking into account the EF on the ultrasound) put my chance at 1 in 2000 ( I am 36 ) - the percentages were just hard to wrap my mind around. Finding this message board helped me feel hopeful, after I read through all of the posts and saw the the great majority of people came back after their baby was born and reported that their babies were totally normal. Please don't be upset by Storie's account of her baby having Downs- so far, all of the people on here who came back and reported afterwards ended up with normal babies, except for Storie. I don't think she ought to be vilified for bearing news that others don't want to think about. She is only reporting her personal feelings and outcome, and I wish her the best with her baby girl, I know they have a tougher road ahead than she expected, but I hope she finds much more joy than she anticipated in their lives together. Personally, I am not willing to do an amnio, even though I will have to live with not knowing for several more months. For me, it is not worth the risk of possible miscarriage. There are no guarantees in life anyway, even if the amnio came back as "normal", there are many other risks in pregnancy that an amnio can't predict, (like the possibility of getting exposed to fifth disease, toxoplasmosis, etc.) so personally I am not willing to take any extra chances just to ease my mind on this one of many possible issues before birth. As far as research goes, I found some encouraging info. on a website called Medfriendly.com, which says "There is conflicting evidence as to whether echogenic foci in the heart lead to an increased risk for Down syndrome. That is, some studies have found that there is no increased risk whereas others have found that unborn children with echogenic cardiac foci are four times more likely to have Down syndrome. Many studies suggest that unborn children with echogenic cardiac foci have about a 1% chance of having Down syndrome." Think about it- that would mean your chances would be 99% of having a normal baby. Even if your baby were four times as likely (as in their given worse case senario), if your original chance was only 1 in 10,000- that would still be only 1 in 2500, which is pretty low. I also wanted to say that having a child with Down's syndrome is not the end of the world. I know from volunteering many years with special olympics that there are many wonderful and sweet high-functioning kids with Down's out there- ALL the volunteers loved getting a chance to work with the Down's kids because they were so sweet, and functioned at a much higher level than most of the other kids in the program- it was always rewarding. There are many blogs on the internet about some wonderful (and adorable) children with DS, like mauzysmusings.blogspot.com Anyway, my main message is - everybody keep your spirits up. The chances that your baby is normal are WAY higher than having a baby with Down's. If you can't help but worry, do what you need to in order to cope. Amnio is right for some folks, OR even just learn more about Down's syndrome so it won't be so scary to you - even if you don't ever have a child with Down's you will have more empathy and understanding for other moms you see who do. There are no promises that life will always be golden and perfect, make the best of it and try not to stress - for you AND your baby's sake. Please everybody, do come back and post after birth about your outcome- you are helping all the future moms who read this thread, like myself.

Hello momof2almos3, Do you know where the DR got that statistic from because with all my research and asking questions i have only read 1% chance for DS when it is just that marker, i have read the 4%. whats interesting is my midwife says she see's at least one a month. I wish there was not so much conflicting info.

Hi Downunder- I agree, the percentages ARE very confusing- I'm sorry if I wasn't clear- the doctor said 4% of normal children have the ecogenic focus in utero, and 30-40% of downs children have it. But that isn't the percentage chance of actually having a child w/Downs after EF is detected- he did not give me that number (which would have been a much more helpful statistic), and frankly, I was so stunned, I didn't have the sense to ask. So, I read through a bunch of medical sites online to find the % chance of actually having a child with DS when EF is the only marker - which, as I mentioned, is only 1%. It is not actually conflicting info- just dealing with different statistics, so it's confusing. He was very rea__suring that my chances were low at 1:2000, but I wish he had actually told me that it was only a 1% chance - it would be so much easier to understand. He is an OBGYN specializing in high risk pregnancies, so he sees EF a lot, (in fact he told me he had already seen 3 others THAT SAME DAY) which I think is why he doesn't realize how panicked mothers get when they hear something is potentially wrong - he didn't explain the chances quite well enough, IMO, and it seems from reading other posts on here, that is often the case, or we wouldn't all be freaking out. I just think it's a shame that doctors cause so many moms unnecessary stress over something that is so unlikely to happen - it's not good for the mom or baby.

My Peri told me that he participated in a study on isolated EIFs, and said without any other markers, advanced maternal age, increased NT, etc., it is debatable whether a woman's risk is increased above her background risk when one is found. I wish I had seen MY Peri when they found the EIF (I saw one of his partners, who didn't give me much a__surance). I agree, amnio is not for everyone... but it WAS for me. I don't a__sume that since my amnio was negative for Downs, that I will have this perfect, healthy baby who will never have any problems or anything like that... of course I don't know what the future holds. But for me, I would want as much advanced knowledge beforehand if it was possible. And since I had that option, I took it. (Mind you, I HATE surprises, and every since I can remember, have unwrapped and re wrapped all my Christmas presents so as not to have any surprises!) Everyone has to do what's right for them... but if there was a chance my baby had a problem, and I could find out for sure or not - I had to do it. I would want to be prepared before the birth of my son - but that's just me. And I would LOVE to be someone who could put it out of mind for now, and go with the odds that everything will work out fine... but I can't change who I am! Thanks for the thoughts Downunder. I hope my body cooperates and keeps this baby in as long as possible. Still praying for you, and everyone....

Just another update that my full amnio report came back and everything looks normal. I am now convinced this is the case for everyone. Best wishes.

Hi, thanks for the updates. I am going through the same. I just turned 30 and found out the news at my 20 week ultrasound. Except I have two foci, not sure where (same side or bilateral). It has been hard to get all the info I want from the nurses and have yet to talk to a doctor since finding out my quad raised my risk to 1:179. (My husband and I decided not to get the blood test *until* we were given the news on the spots. We took it the same day.) Needless to say, I am worried, I can't sleep, it is all I can think about. I have googled Foci, focus, EIF, spots, dots and AFP screen alternatives a thousand different ways. It seems I keep getting back to this particular thread and reading it in it's entirety makes me believe that it is a good thing to be here. Anyway, I am unsure whether they factored in my foci when determining that risk number, what part of the quad screen was abnormal etc. I will get more information on Wednesday. I have an appointment with maternal fetal medicine and they will do a level 2 ultrsound and counsel me from there. If they cannot ease my worry I am sure to have an amnio. I cannot go another 3 months in this anxious state.

Hang in there liddlemama, I find the same thing when i google it. Pretty much i have come to the realisation that most info is about the same, some a little conflicting. All i can say is hang in there, I'm 31 and worry every minute of the day about my little one, I go for my next US to see maybe hopefully the spot might be gone in a few more weeks, and i'm so terrefied they might find something else. I'm sorry you are going through this but know you are not alone, this thread really helps when you have those worries of unbeleaveable fear! peridots Thats great, i'm so happy for you!. Thanks momof2almost3 i hear you with all the conflicting info!

Thanks Downunder, Yes, the info is very conflicting. The nature of this phenomenon is odd and though it's been awhile since they have been discovered, the studies are still ongoing and have had too many variables in my opinion. One study that broke the risk down due to other factors was helpful to me. It won't let me provide the link so I copied the section most helpful in my opinion::::::252 Beyond the Echogenic Intracardiac Focus: Aneuploidy risks based on the presence of additional risk factors. M. D’Addario-Hudson1, D. Jadali2, F. Wang1, A. Donnenfeld1. 1Genzyme Genetics,1054 Town & Country Road, Orange, CA 92868; 2Daryoush Jadali,184 North Brent Street, Ventura CA 93004. Objective: To determine the effect of advanced maternal age, an additional sonographic abnormality, and a positive multiple marker screening test on the risk of aneuploidy in fetuses with an echogenic intracardiac focus (EIF). Methods: A query of our database between March, 2000 and June, 2003 for all amniocentesis samples submitted with an indication of EIF was performed. Risk of aneuploidy was determined for isolated EIF and for EIF in conjunction with an additional risk factor; a second ultrasound abnormality, AMA, a positive second trimester screen and combinations of these three additional factors. Poisson and logistic regression were employed to determine the chromosome abnormality rate based upon the indication(s) for amniocentesis. Results: A total of 2,462 amniocentesis samples were submitted with EIF as an indication. An isolated EIF was the sole indication for amniocentesis in 1,027 cases. In the remaining 1,435 other cases, at least one additional risk factor was present. 124 cases of aneuploidy were identified; Trisomy 21 (91); Trisomy 13 (6); Trisomy 18 (2); S_x Chromosome abnormalities (9); Triploidy (3); Unbalanced translocation (3); Denovo inversion/translocation (5); and Mosaic aneuploidy (5). The risks for aneuploidy were as follows: EIF alone, 1.2%; EIF with advanced maternal age (AMA), 3.36%; EIF and a second ultrasound abnormality (AbUS), 3.88%; EIF and a positive multiple marker screen (MMS), 4.17%; EIF with AMA and positive MMS, 16.7%; EIF with AMA and AbUS, 25%; EIF with AbUS and Pos MMS, 46.5%; and EIF with AMA, AbUS and positive MMS, 62.5%. The greatest single factor increasing the aneuploidy rate was a second ultrasound abnormality found in conjunction with an EIF. The second best factor was a positive multiple marker screen. The least sensitivity occurred in conjunction with an EIF and AMA.The aneuploidy detection rate with an isolated EIF is significantly lower than when any single risk factor or any combination of additional risk factors are present (p<0.05). Conclusions: The presence of an isolated EIF confers a low risk of aneuploidy, in our series 1.2%. When additional risk factors, either alone or in combination, are present (advanced maternal age, a second sonographic abnormality, or a positive multiple marker screen) the risk for aneuploidy is significantly increased. The greater the number of risk factors, the higher the risk of aneuploidy. Pregnancies in which there is an EIF, a second sonographic abnormality, AMA, and a positive MMS have a 62.5% risk of a chromosome abnormality.

Congrats peridot, thats great news...big hugs! as for me, I had another scan done down at fetal medicine on tues and there are still no markers anywhere. Just my cooky score of 1/46 for DS. everything looks perfect on the u/s. I am hanging onto the blood work is false positive. My dr said she looked awesome and healthy on screen. But I guess we won't know till they lift her out. xo

Hi Lovemy3 i was doing some research on screening test and came accross this which i thought you might find useful......Out of 1000 pregnant women, approximately 50 will have quad marker screen results that indicate an increased risk for having a baby with a birth defect. Of those 50 women, only one or two will actually have a baby with an open neural tube defect. About 40 women will have quad marker screen results that show an increased risk for having a baby with Down syndrome and one or two will actually have a baby with Down syndrome. You have no other markers i think you will be fine. Hang in there

I too had the echogenic focus show up at my 20 u/s. I'm 35, and was pregnant with my second child. I had a negative AFP test and subsequent u/s showed that the EIF was an isolated finding. I was sick with worry the entire pregnancy, even though I had been told by my doctors that it was extremely unlikely that there was anything wrong with my baby. I had a scheduled c-section on October 9 and was so worked up that I had an anxiety attack after the spinal block was administered (heart rate skyrocketed, blood pressure plummeted, I almost pa__sed out and turned a scheduled c-section into an emergency one under general anesthetic. It was very scary) I read this forum all through the last 20 weeks of my pregnancy and was encouraged by all of the good outcomes, so I thought I would post my own. My beautiful baby girl (our second daughter after six years of infertility) was born completely healthy with no sign of any genetic problem, and is now a thriving one-month old! I can't tell you not to worry, but I can pa__s along encouragement to all that have had this finding that there is always hope since mostly all babies with an isolated EIF are just fine. Good luck to everyone reading this, my thoughts are with you during this worrisome time!

Congratulations MY2Girls. :D Thank you so much for posting, it is (as you know) rea__suring. I went in to see the people at Maternal Fetal Medicine today. I had the level 2 ultrasound- everything looked fine and in fact they only saw one focus instead of two. They explained that my blood screen took my risks from 1:660 (30 yrs) to 1:170, then they added on the risk for the EIF and it is now 1:94. And actually the numbers weren't that off from what is considered normal. If you have a "positive" blood screen it means so little until you look at the numbers, I was off by decimal points. So even though I felt more comfortable, I went ahead and did the amnio and asked for the FISH test. The amnio wasn't that bad, it's more the thought of it. I am still scared that something will go wrong so I am in bed resting- also I am still nervous as far as what the results will be but I now know that I will have results soon, by Monday. I will post back the results- wish me luck!!

My thoughts are with you liddlemama. I too am pregnant with a baby with an echogenic foci. Even though my blood work came back negative, I still worry. I opted out of the amnio, because my risk for miscarriage from the amnio is higher than my risk of having a baby with down syndrome. Hang in there.

Keep rested liddlemama and let us know your results asap. I'm sure they will be just perfect. take care of yourself and get all healed up! Midwest..so its you and I waiting it out! What is your due date? My section is Jan 31st. ately it hadn't been weighing on my mind too much, but today it just seems to be there. My next scan is Nov 20th and they will again look for anything out of the norm. So far all scans are good but my bloodwork was just horrid. How are you all doing?