EIF marker for down syndrome

lmossali

I just got home from regular OB appt. They reviewed the results of the a/s that was done on Friday as well as my triple screening for genetic disorders, etc. 

They told me that my blood work came back good with less than 1/5000 (I believe, she went so fast but said they were all good) Then she continued and said they saw the small bright spot which is the reflection from the baby's muscles around the left ventricle. Which could be a soft marker for down syndrome. She mentioned that that was the only marker present. Which I guess makes me feel a little better. But then mentioned that the doctor on duty Friday recommended coming back at 28 weeks. But my doctor who was not concerned in the least was like "with blood results like yours and just one marker there is no reason to come in at 28 weeks. We normally do another at 36 weeks anyways." My doc said she sees about 1 in 100 patients with the EIF and most have healthy babies. She also said that with results like ours even specialists would turn us away and try to counsel us out of doing an amniocentesis. 

I'm not sure what to think or what to do at this point. I wasn't originally too worried, but my husband was a wreck and so I did the ultimate no no and took to google.

Has anyone else had any experience with this?! 

benoitfan

I'm sure everything is probably ok, although the NT scan results are just probabilities, not a diagnosis.  I can also understand your doc's wait and see approach, rather than going the amnio route.  There is another option that may be available to you.  Ask your doc about the MaterniT21 or Verfi test.  They screen for all the trisomies are give a diagnosis with very good accuracy rates.  They are both new tests and not available everywhere and probably aren't covered by your insurance, but you might want to talk to your doc about them.

GL. FX everything is fine with lo.

pb_bride

EIF is very commonly seen on a/s.  Up to 5-7% of all pregnancies have them; yet very few of EIF turns out to be a true marker for Down Syndrome.  In the absence of any other markes, PLUS a good screening test results, there is no reason for you to worry about it at all. 

P.S. In the Asian population, up to 30% of all a/s shows one EIF. 

teresamartini11

My baby had an EIF too. Since I did not have the blood work I have to have high resolution ultrasound.

BCfan1

I unintentionally ended up on this board and had to respond when I saw your post.  My daughter had this too and, I found out, 3 of her 5 baby friends had them also (none of whom have Downs).  We have a really good fetal monitoring lab around here so they always do the extra strong (I forget what it is called...stage II?) ultrasound so they are finding a TON of these that they just didn't use to see because the ultrasound equipment wasn't very good.  The person that did all our ultrasounds was an ultrasound and genetic specialist (that wasn't his exact title, but that was the gist of it) and he explained it to us very thouroughly.  He said that, with no other markers, the spot only increases the risk for Downs 1.1 times, not 1.1 percent.  So if you are at 1/5000 without the spot, you are at 1.1/5000.  That is still less odds than, for instance, someone who is six months older than you with a perfect ultrasound.  If it is at all possible, don't worry!!!!!  My doctor said he doesn't even like to tell people about it because it means nothing and only stresses people out.

lavet22

I understand the concern by the soft marker for EIF, but your blood work came back great!  I would go back to your original reaction and not worry about it.  Remind your husband of the bloodwork results and see if that calms him down.  One soft mark seems to be fairly common, given the other test you had, I really wouldn't give it any more thought.

MamaDobbs

They found one soft marker on my friend's ultrasound so she had repeat ultrasounds and finally ended up going to a specialist who said everything was perfectly normal. That was a few months ago and she now has a perfectly healthy beautiful baby boy. She said it was the worst thing for them to tell her that because all it did was make her worry for nothing. So TRY to think positively!

lmossali

Thank you all so much for the positive reinforcement. I know the odds are low but I just felt like I didn't have enough information. I finally understand some of the reasoning behind the odds and whatnot and I know they are just that they are odds not diagnostics. 

Thanks again for all your support!  

CnSFinley

JUST experienced this Friday. The tech was SO sweet and said its of NO worry because she saw nothing else to cause concern but thet I might have another scan to look again. I got a follow-up call today and Dr. asst. said my tests were 100% normal that they don't need to run another scan for the heart but will have another scan to check my low laying placenta in four weeks and they'll just peek at her heart again. I was nervous all weekend but now I've simmered down-especially since I've seen a ton of the same story and everyone little ones are healthy