Down Syndrome Markers

abhphilly

Was anyone told at either their NT scan or anatomy scan that baby has a marker/markers for Down syndrome?

Our NT scan came back as low risk as possible for my age, and nothing was mentioned being off in the ultrasound. But, at our anatomy scan yesterday they said everything was measuring on track and in the right place, except there is no nasal bone. Apparently that’s a strong marker for Down syndrome. We got the cell-free DNA test done yesterday (not sure which brand of it) so we should have slightly more accurate results in 7-10 days than the NT scan’s bloodwork. We decided against an amnio because DS is not a deal breaker for us and we didn’t want to take the risk. We’ll love our son no matter what; we just want to be prepared. Even if the blood test comes back negative though, the missing nasal bone could be a sign of another syndrome of some sort (or the nasal bone could just suddenly be there at birth like it seems to have been for a lot of people on the internet who got this news...who knows?!). 

I guess I’m just wondering if anyone else had one of the physical markers in past pregnancies and what was the outcome, or if it’s this pregnancy do you want to follow along with each others’ journey on this thread? Thanks!

nanifrog

I don't know anything about this but thinking of you as you go through the waiting. You sound very calm and patient and accepting of everything right now. Not sure if it's just the post. Either way, I hope you get answers quickly.

abhphilly

@nanifrog We definitely had some freak out moments yesterday when we first got the news, and we obviously would rather he doesn’t have DS, but with our history of loss we really are just happy to have a chance at a happy living child.

MissusTexas

I just wanted to say I understand the feelings you’re going through. We’re waiting on my test results for Trisomy 18. I pray that you get good news and the nasal bone shows up! Big hugs to you!

cups4

@abhphilly  your last comment really touched my heart.  I don't have any experience with a physical marker, but it seems no matter what, you and DW are going to be amazing parents to your baby boy.

abhphilly

@MissusTexas @cups4 Thank you! Keep us posted @MissusTexas. I'm so thankful to have this community.

okaykoala

I don't have experience with this specifically, but I do have some experience with waiting for genetic test results, and that wait alone can be agonizing. You and your husband do sound like you'll be great parents--you'll be in my thoughts! 

sandbar517

So sorry you're dealing with this stress right now.  You and your wife seem to have a wonderful outlook on life, it's so hard to find the positives in situations like this, but it looks like you've been able to do it.  My thoughts are with you and your family right now, please keep us updated.  

thunderberry

I don't have any personal experience with physical/soft markers, but I really sympathize as I was going through a similar stress not long ago because of our NT scan. I wanted to share the Canadian Down Syndrome Youtube channel. When we were trying to wrap our heads around things and decide what we'd do if we got a positive result, watching some of the videos on there really helped us calm down and realize that this diagnosis doesn't have to be the end of the world. It sounds like you and your wife are handling it amazingly already but I thought I'd share it just in case. A lot of the videos are really cute if nothing else!

https://www.youtube.com/channel/UCBoK7caXjL1azwINDj3iC0A

Keep us updated, I'll be thinking of you.

sparklingdiamond

I am thinking of you and hoping you get some answers soon!

mileswithmyles

@abhphilly not my personal experience, but a mom on my BMB has markers for Downs at 20 weeks and her baby did not end up having it. 

I love your your outlook on this right now. Big hugs to you and your wife while you wait for the results. 

onesmallcoconut

I don't have any experience with this but wanted to say I admire your approach to this. Not everyone would be managing the way your family is. I'm hopeful everything will turn out how you want it to but regardless this baby is going to belong to such a loving family and that's what's important ❤️

doraleigh35

No experience, but I just wanted to say that I am thinking of you. It sounds like your son has two amazing parents. I'm sorry that you're going through this. I hope that you can get answers soon.

abhphilly

@mileswithmyles Thank you! Apparently two of my cousins also had sons with DS markers but no DS. It’s crazy how common everything is once you talk about it.

sparklingdiamond

@abhphilly Totally agree with your last statement!  I had never heard of CDH before our diagnosis and now it's amazing to find all the parents out there with CDH children.  That's it still not as common as some other things, but common enough.  Did they say they say a nasal bone with the NT scan or did they not look for it then?

abhphilly

@sparklingdiamond I don't think they looked for it at the NT scan...at least they didn't mention it.

theletlers

Hopefully everything turns out well. Even if he does end up with jr, you and your wife seem to love him so much already I can't imagine him being an unhappy boy. I didn't see this thread before commenting on your AS post, but pm me if you want any info or want to ask any questions. I'm sure it's incredibly stressful waiting for results to know how to react and what to make plans for LO! Love and hugs to you and DW! 

suchaglencoco

So glad you and your wife are taking the information so well. Times like this either bring couples closer or show the cracks in their foundation, you 2 definitely seem to be drawn closer which is fantastic. 
Also happy you've opened up to us, and others, and have learned things like this are common and not a diagnosis yet. 
Hugs to you!  Please keep us posted!!

dem068a

I had 2 soft markers and am waiting on the results from an amnio (should be any day now).  I had no results (twice) from my NIPT test, and they saw a bright spot on her heart at my 16 week anatomy scan. Both can either mean nothing, or are soft markers for downs. We ultimately decided to do the amnio in order to prepare ourself for whatever the case for this baby might be.  Like you, we love her either way, but just want to know.  My initial results are looking good, but my full diagnostic results will be in this week.  All this technology is great, but also can terrify you.  It’s good to remember that these babies are only 5 or so inches long, so everything on the baby is so tiny, and it’s really hard to know anything for sure. 

abhphilly

@dem068a Good luck. Keep us posted! I totally understand wanting the results of the amnio, especially when the NIPT didn't work for you. We've had 3 losses, including a second trimester one, so anything non-life-threatening is not worth even the tiniest risk for us. I do wish we could have the certainty that would result from it though.

motherof2monkeys

So sorry you’re going through this. Thinking of you and hoping it turns out to be ok. Xx

disney7278

I’m sorry you’re going through this- keep us updated! Much love to you, your little guy, and your family!  

Ceridwen77

Ditto what everyone above said. You’re handling this so wonderfully. Good luck with everything and keep us posted on your cell free dna results!

glitzandglitter

I just wanted to say I am thinking of you

rachelg777

@abhphilly Thinking of you and your DW! Please keep us updated. Echoing others, I am so impressed with your outlook and admire your positivity. Your son is lucky to have such loving and supportive parents.

abhphilly

I just looked at my NT scan results again and they CLEARLY state in multiple places that the nasal bone was present. I don’t think it can disappear. Guess I’ll call the doctor tomorrow and see what he says. I wasn’t too impressed with his initiative and didn’t see him looking back at past ultrasounds. He didn’t even realize I’d had an NT scan until I told him, and it was done at the same office. So confused! 

theletlers

I'd definitely be calling tomorrow to clarify!

bwow615

@abhphilly wow! Good luck with the call tomorrow, hopefully they will let you come back in for a repeat scan. 

Poppy0419

@abhphilly I love your heart and outlook. You and your wife are incredible and inspiring. Whatever happens, that baby will have the best parents. I’ll be thinking of and praying for y’all. 

silverhope

@abhphilly Glad you are calling back tomorrow. That is incredibly frustrating about the conflicting NT scan and AS scan. I hope you and your wife can get answers soon. No matter what, your sweet baby boy is lucky to have such informed and loving parents. 

mmb4532

Thinking of you and your wife at this time. I love your positive outlook. I like others, have a friend who was told her baby would be severely disabled and she might want to consider not having it, the baby was born perfectly healthy! 

suchaglencoco

Yes,  definitely call and demand to know what the heck is going on. 
And at this point,  I may be looking into other doctors. This is a life altering diagnosis possibility. He should have looked through all of your paperwork and testing before talking to you.

abhphilly

@suchaglencoco It's a whole high-risk practice, so a different doctor comes in after each ultrasound. Hopefully I just don't get him again...

suchaglencoco

Yeah, I'd definitely request someone else to review your file.

mileswithmyles

@abhphilly it always shocks me how differing statements between doctors in the same practice can be. Not that this is the same as the potential for DS, but I ended up switching doctors with DS. The OB I saw at my first appointment (which was right after my loss) told me DS’s heart rate was low, I was high risk, and I shouldn’t work out because I might “jolt” the baby. I was totally freaked out and thought I was going to lose the pregnancy.  I got a second opinion and that OB negated everything the first one said. 

Can you ask someone else follow up with you after the ultrasound?  

abhphilly

@mileswithmyles I left a message with them this morning, so I'll see who calls back and what they say. Either way, I'm still not too concerned if it is missing or there is a high risk of DS, but I'm pissed that there's this blatant discrepancy for sure.

thunderberry

That's crazy! Sounds like you definitely need a second opinion. I can't believe all the stories out there about doctors being so incredibly cavalier about such incredibly stressful news, he really should have been well informed about your entire file.

mileswithmyles

@abhphilly Right?!  One of the doctors/techs is clearly in the wrong.  Like you said, nasal bones don't just disappear.  

dem068a

It’s amazing how unsure they can be about these life altering things.  I just got my results back from my amnio, and thankfully everything is ok. But this was after many concerned conversations with my doctor and genetic counselor. I am glad nothing is wrong with this little peanut, but they are certainly good at stressing you out (even before there is an actual diagnosis).  Hope you get some better answers soon!

abhphilly

@dem068a So glad you got good results and can relax a bit now!

dem068a

@abhphilly thank you!  Like you, we were ready to deal with whatever the situation was, but we just wanted to actually know what the situation was