Pregnancy 35 and Older Community
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290648 tn?1211591846

risk for downsyndrome took a dive

I got an amnio yesterday.  we didn't plan on it because my blood work came back as 1 in 6,200 chance of having downsyndrome    (which are great numbers - it could have been anywhere from one in 10 to 1 in 10,000)   but then yesterday at the ultrasound the dr. pointed out a white mark in the heart that brought the odds of downs to 1 in 100. (something about calcium on a valve-- heart is functioning fine, but its just something that shows up in downs babies)  so recommended the amnio.  i'm 20 weeks now.  There is just no way I'd terminate, and I"m glad hubby and I agree.  ESPECIALLY being sooo far along.  He's rushing the results.  I think he did that assuming we had a decision to make, but we've really already made it.   we'll have results as early as thurs. or Friday.  I've been resting/laying around doing nothing since the amnio, have had mild cramping which is normal.

anyway, i guess i wanted to stress that even though my blood work was amazing for a 36 yr. old, it seems as if it doesn't mean a thing.  and had i known that, i would have gotten the amnio earlier instead of torturing myself worrying about the blood work at that time.

I wanted the amnio, after seeing the heart, and he told me odds were now 1/100 because I wanted to know and be as prepared as I can be should there be genetic issues.  
I'm 19 weeks 6 days.
7 Responses
290648 tn?1211591846
this is a wikipedia article about the 'spot on the heart' that made me feel better:

189192 tn?1261341628
Hi Steph,

Wow, what an about face you have been through. Going from 1/6200 to 1/100.  Just thinking about it makes me dizzy.  That is really great that your dr is getting the results for you as quickly as possible.  I'm sure they will come back fine, but it will be great to have results of the test to verify everything.  Best of luck to you.  
97615 tn?1212678589
those results have more false positive's then you can imagine.  i know a woman that aborted 3 pregnancies due to those tests!!!!  My son had an echogenic spot on his heart which is a marker for downs.  my son was born perfectly fine.  i worried the whole entire time.  i did not have any other testing, that was my choice.  the spot on the heart was a normal variant.  best wishes.  
161782 tn?1201217932
Just wanted to say I'll be praying for you although the odds really are in your favor (99%), and like jifnif says, it can show up in healthy pregnancies.   My odds were 1 in 100 just due to my age.  

Again, that's why I went right for the amnio.  I didn't want to play the numbers game.

Jif, did that lady abort BEFORE confirming DS with an amnio?

Please keep us posted.
281219 tn?1219114914
Steph, I also had Echogenic Foci on my little guy's heart and it brought my numbers down, too. I did a lot of research, talked to my dad (he's a radiologist) and talked to my own doc and specialists. EF is NOT a reliable soft-marker for Downs.My high-risk OB even told me both yesterday (during my 20wk u/s) and at my last 16-wk visit that many in the medical community actually dispute using EF as a marker for down's since SO many normal kids have that same marker. It's not a congenital or physical abnormality of the heart...it's just a "thing" that appears sometimes. So, if (IF) EF is what your doc found DON'T WORRY!!!!!

The analogy that was given to me is this: Fever IS an indicator of a serious health issue, but fevers are also present in normal, healthy people many days of their lives, so just finding a fever doesn't mean a thing, you have to find out the cause of the fever. So, in like with the heart, just finding EF doesn't mean your baby has Down's....finding EF means your baby has an EF spot on his/her heart but your baby can be just as normal as the next baby.

Christina 21w2d
Avatar universal
Good news is your going to rule out downs or prepare for it and know one way or the other!  I think as you can see here....there are alot of women that have been thru similar situations and their babies turned out fine.  It's good that you and your husband are on the same page and your Dr sounds very understanding.  The odds are really with you so don't worry yourself silly!

Good luck!
290648 tn?1211591846
Yes the more research I'm doing, the more I'm seeing how common this Echogenic Foli is, and that many obs don't even use it as a soft marker anymore because its not reliable.

I'm not going to worry or think about it anymore until I have my results.  Once I have my results I know If I can relax, or need to do lots of research.

thank you ALL so much for your reassuring replies. stephanie
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