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Level II U/S this morning **UPDATED**
I know I don't post here too much, but I lurk a lot. DS has NF1 and a speech delay (unknown if related to his NF) and I am pregnant with baby #2. DH and I were tested for NF and neither of us have it, so DS was a sporadic mutation and we were told our odds of another NF baby were less than 1%, and my OB felt confident that we could have a healthy child. NT scan results showed a greater than 1 in 10,000 odds for Downs and Trisomy. We had the anatomy scan on Monday and there was an echogenic focus on the heart, which is a soft marker for Downs. DS had the same marker and now I am SO paranoid that there is something wrong this time too. I am having the level 2 ultrasound this morning, to make sure that it is actually an echo focus because the tech and my OB weren't sure, and to see if there are any other markers for Downs or other issues, which were not seen at our u/s Monday.
I am just so frustrated and sad. I have been worried throughout this pregnancy, and now seeing the focus just like DS has made my even more worried. He doesn't have Downs but a different disorder, so I guess question #1 today is how related is an echogenic focus to any other disorders, and what do I need to worry about. The OB said we could do an amnio for peace of mind, but I feel like the risk outweighs the possibility of a problem. Anyway, that is my long rambling post. Any thoughts would be nice as we go in this morning. I hate this.
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Re: Level II U/S this morning **UPDATED**
First, *hug* Good luck this morning. I hope you get some reassurance!
Second, I know that echogenic focuses (focii?) can be indicative of a variety of things but they can also mean nothing. That's why they call them "soft" markers for Down Syndrome and other issues, because they aren't diagnostic, they don't tell you anything for sure. So it's possible this is nothing, even if there actually is an echogenic focus there. And maybe there isn't - I would bet your OB and tech are being a bit more careful than usual because of your history and you said they weren't sure they saw it. So there's a good chance there's nothing going on and you've got a perfectly healthy kiddo.
And on the subject of chances, your NT results are encouraging. Thicker nuchal folds are also more common in kids with other chromosomal disorders besides Down Syndrome, so it's a positive sign that everything looked good there. (although, full disclosure, my DD1 had a perfectly lovely slim little nuchal fold and has Williams Syndrome - there are never any guarantees)
Try to think positively and hang in there. I'll think happy ultrasound thoughts for you this morning!
Congrats on your baby girl! Very exciting! Sorry that the U/S didn't go as planned, must have been very scary for you.
Honestly, if I were you, I would go for the amnio. My younger daughter has NF1, and the whole diagnostic process was just awful. I think it would have been much easier to know from the beginning then all of the 'well, you could get a negative and we will still treat her for NF' that followed. If we have a 3rd (which we likely won't b/c of this) I would opt for the CVS or amnio for sure. I would hate to see you this stressed for the rest of your pregnancy...Oh, and my NT results for my DD2 were perfect, you just never know.
On another note, if your baby does have NF or Downs, it's not the end of the world. With both conditions people live happy, full lives. Lots of hugs to you and your growing family
Everything at the Level 2 went great, the perinatologist thought that our odds of a healthy baby was very high. I basically told him, you guys told us the same thing last time and my son has NF. They say there is no correlation between a focus and NF, but if it could be indicative of a different disorder then I just need to know so I can be prepared and not waste so much energy and emotion on worrying while my baby is so new.
DH and I were tested for NF and neither have it, DS was a de novo mutation, so the peri agreed with our geneticist that having another NF baby was extremely low, about a 1% chance. We are most likely going to do the amnio just because it will give us peace of mind. Thanks for the thoughts and kind words!
I'm a lurker but i just wanted to throw in there that DD#2 had an EIF on her heart and I freaked out the entire pregnancy. I would be ok for a few weeks and then a week or panic would hit me. It was super hard and shot my anxiety through the roof.
As you can see from my picture she came out w/o DS and has no heart problems! Just thought an uplifting story might help you out
Now that I am expecting again I already feel the anxiety building.