Ultrasound day... not as expected.

sarbear10101

Talk about the wind being knocked out of your sails... we went in for an U/S on Friday afternoon at 21 weeks SOOOOO excited to see baby.  Everything looked great until the U/S tech could only find one umbilical artery.  So, onto a perinatologist we go for further testing.  As if that wasn't enough scary and anxiety producing information, she also shared with us she noticed a little dark spot on the baby's heart, which is called Ecogenic Cardiac Focus.  This could mean absolutely nothing, or it could mean a chromosomal disorder of some sort.  The ultrasound tech was the only person we spoke to, so we didn't get to hear our odds of DS as some people have on other boards, or any other form of reassurance at all.  She took our phone number and said the Perinatologist would call us to schedule an appointment.

So naturally I called the Perinatologist at 0800 Monday morning, telling them we received just enough information to torture us, and the receptionist squeezed us into the schedule this week. 

Saturday I was a basket case.  Sunday a little better, and Monday and Tuesday I really felt at peace.  Baby had two kidneys and four heart chambers and everything else looked great (I think) but this knowing something is not right yet not knowing anything at all is torturing me today.  Of course all I can do is google and read even more terrifying stories.  Does anyone have any experience with this?  How will I know whether to get an amnio or not?  

I don' t personally know any DS kids, but have read they're a true blessing... why am I having the hardest time imagining that for my baby?  I'm a surgical nurse so the thought of something physically wrong requiring surgery doesn't scare me nearly as much.  I don't want to be upset for my baby's sake... the little nugget has enough to do with growing up healthy and strong and I don't want him/her to "think" I would love them any less if we are dealing with a disorder.

Any words of reassurance/wisdom would be so much appreciated.   xx 

kokokat

I'm sorry to hear that your u/s didn't go exactly like you wanted.  I'd be a nervous wreck, too.  I don't know about the umbilical artery issue, but I do know that many people have an echogenic issue found with the heart, only to find out that all is well, and there's no chromosomal issue.  DId you have an NT scan?  If so, were the results of that normal?  If so, I would hope that greatly decreases the chances of the spot on the heart being something serious.  Hope to hear good news from you soon.

kimmyt09

I had the soft marker on the heart with Lucas- I went back a week later and it was gone. My OB at the time said she had only seen 1 case in all of her practicing years where the EIF turned out to actually be a marker for Down's. I don't have any experience with the umbilical though. I know its really tough to not get worked up, but there were several ladies on here that went through the same thing with the heart when I was on this board 2 years ago, and everyone ended up getting good results. Good luck to you! 

ashleynaka

Wow!  So sorry to hear that you've been put through the ringer and then some.  It must be a very difficult time for you with many emotions going through your mind.  I would be an absolute basket case.  Hang in there.  I am a true believer that everything happens for a reason and believe it or not, it actually always tends to be just fine.  Good luck with everything else that you might have to go through.  You can always post a message/update and we will be there for you!

sarbear10101

kokokat:

I'm sorry to hear that your u/s didn't go exactly like you wanted.  I'd be a nervous wreck, too.  I don't know about the umbilical artery issue, but I do know that many people have an echogenic issue found with the heart, only to find out that all is well, and there's no chromosomal issue.  DId you have an NT scan?  If so, were the results of that normal?  If so, I would hope that greatly decreases the chances of the spot on the heart being something serious.  Hope to hear good news from you soon.

I'm not sure what an NT scan is... if it's the bloodwork they do at 12ish weeks we didn't opt for that since they can produce a false positive and I'm not a big fan of unnecessary worry. 

Cozfijibride

sarbear10101:

kokokat:

I'm sorry to hear that your u/s didn't go exactly like you wanted.  I'd be a nervous wreck, too.  I don't know about the umbilical artery issue, but I do know that many people have an echogenic issue found with the heart, only to find out that all is well, and there's no chromosomal issue.  DId you have an NT scan?  If so, were the results of that normal?  If so, I would hope that greatly decreases the chances of the spot on the heart being something serious.  Hope to hear good news from you soon.

I'm not sure what an NT scan is... if it's the bloodwork they do at 12ish weeks we didn't opt for that since they can produce a false positive and I'm not a big fan of unnecessary worry. 

The NT scan is the scan that ACCOMPANIES the bloodwork. They are BOTH done at 12 weeks. Together they quantify your risk for chromosomal problems. I had the 12 blood work, NT scan I also opted for the Materniti21 test (optional). Materniti 21 test came back negative for DS. When I just had my (early) anatomy scan yesterday the tech found some foci on the heart as well. It CAN be a marker for DS. However my little girl has already had a negative DS test, so no worries. Dr. said no problems. If I wouldn't have had the test done Dr. said it would have meant I would have had an immediate amnio. 

IMO, the Dr. should have seen you immediately ! I'd have some serious issues with the way that was handled - especially the 1 artery.  At ALL my scans I meet with a physician not just the Tech. . 

lizzybean

They also found an echogenic focus on my baby at our A/S. We saw a specialist a week later. He did a more detailed u/s. This more detailed u/s, combined with our blood work coming back least likely for issues, and our NT scan u/s not showing any issues, our specialist said there are no issues. I was pleased that we had lots of information to go on, and that everything added up meant most likely a clean bill of health.

The mark on the baby's heart is something that every baby has. If it is slightly calcified, then it can be seen on the u/s. This calcification is not a problem, it is just that if it is visible, they think it can be a soft marker for downs syndrome. 

I hope you can get to the specialist soon. I was a wreck initially. But its just one marker in a huge sea of markers. As long as everything else looks proper, I'm sure baby will get a clean bill of health. GL! 

AngelMell05

Wow I had the same exact diagnosis. All else was normal and my downs numbers were 1 in 10000 . They said I had a slight increased risk of downs . I talked to my ob today and she said I should not worry too much about it. She is sending me for a fetal echo at 24 wks to make sure the heart if functioning correctly and if it is then she said I shouldn't worry about the downs anymore:) I hope this helps you!

sarbear10101

AngelMell05:

Wow I had the same exact diagnosis. All else was normal and my downs numbers were 1 in 10000 . They said I had a slight increased risk of downs . I talked to my ob today and she said I should not worry too much about it. She is sending me for a fetal echo at 24 wks to make sure the heart if functioning correctly and if it is then she said I shouldn't worry about the downs anymore:) I hope this helps you!

This does help thank you!  We go in at 1:30 today. It will be nice to speak with a physician about it since all we've had to go on is the phycho-socially challenged ultrasound tech from last week.  

You must be super young though for your downs numbers to be 1 in 10000.  I had no idea how much the odds increased with age until I started googling this crap. I want to have two kiddos, and after this ordeal I think adoption sounds like a fine option for us ; ) 

sarbear10101

So everything came out great today.  Baby does have the 2 vessel cord, which will mean closer monitoring of growth (and more ultrasounds yay!) every 3 weeks until we're full term.  The perinatologist didn't even see anything on the heart, so that U/S tech from last week can suck it for telling us crap to make us worry all week.  

I am sooooo relieved.  No one mentioned anything about DS and I didn't ask any questions either, so we'll just leave it at that.  Baby's little 3D face looked adorable.

Thanks so much for all of your responses and kind thoughts xx