Abnormal NT Bloodwork Results

Deannabee78

My dr. just called and said that my bloodwork from my quad screen came back abnormal for downs syndrome (1:152 as opposed to normal at 1:250).  Our 20 week ultrasound last week also noted a soft marker for Downs (a echogenic foci on the heart) which at the time they were not too worried. The NT scan was normal. I am super stressed about this.  Any one else had this happen? I go back for another ultrasound in 2 weeks but not sure what my next step will be....

chloebeth930

That result still isn't bad (even though it is considered abnormal). Those odds give your baby a 99.3% chance of not having DS. Stay focused on that and just know that the bloodwork is notorious for giving false positives (for that reason alone I declined the 18-20 week bloodwork).

ELF4321

The NT bloodwork is actually more accurate than the 2nd Tri screen, and the odds you got even from the quad screen aren't that bad.  Hopefully the follow-up u/s will give you some peace of mind.

LER091811

Those results don't sound bad to me. Only one soft marker and those odds are pretty good in favor of LO being perfectly healthy.

Divashrink1982

It's so hard when they find something "abnormal." As a PP said, chances are still very good that LO is healthy and does not have Down's. I know how hard it is to go through the waiting period, though - our LO has two markers for chromosomal abnormalities - the same heart marker as your LO and also clubbed feet. Because of that, they recommended an amnio to rule out Down's and other chromosomal issues - and everything came back fine. The time that it took to get the results back was torturous, though - so I can somewhat imagine how you're feeling as you wait for the next u/s. Just remember that the odds are very much in your favor - and that you have people on here to support you. I will be praying for you and LO - keep us posted.

stemms8810

I don't have experience with this but wanted to say sorry you are going through this.

megank814

I had almost the exact same thing happen! My bloodwork showed a 1:223 chance of Down's (my doctor considers anything under 1:300 high) and at my 15 week ultrasound they noted fluid retention in one of LO's kidneys which is a soft marker for Down's. They did a Level II ultrasound at 20 weeks, which is basically a really long ultrasound (ours was over an hour) where the tech gets tons and tons of measurements and looks for any other soft markers (and in my case, and yours, they'd follow up with the soft marker they had already noted in the previous ultrasound). The doctor said everything looks great but asked us to go back for a follow-up around 25 weeks, just to be on the safe side. My guess is at your next ultrasound, they'll do all the measurements and they may suggest an amnio depending on what they find and what the perinatal doctor thinks would be a reasonable next step. I absolutely understand how nerve wracking this whole situation can be though. All we ever want is a healthy baby and being told there's even the slightest chance of that not happening can be very hard to handle. Keep in mind that your blood work basically indicates that if you were pregnant with 152 babies, ONE of them would have Down's. I also went into major research mode after we found out my bloodwork results and from what I read, most babies have some soft marker or another that never amounts to anything to be concerned about. I also reached out to the girls on the board here and from what they told me, anyone who did have abnormal blood work or an abnormal ultrasound ended up having perfectly healthy babies (: Keep your head  up, and I'll send a few prayers and good thoughts your way. I'm sure everything will turn out fine!

beck2624

We are going through the exact same thing right now. My Quad screen came back as a 1/150 chance of downs. I did my level 2 ultrasound this last week and everything looked normal. I did a blood work test where they test the babies DNA in your blood. It is completely safe, and my high risk ob recommended it prior to doing the amnio because of the risk of a miscarriage with an amnio. The test I did was a newer test called MaterniT21, and it just tests for downs. It will give us a positive for downs or a negative for downs next week with out any numbers associated. It is nerve wrecking playing the waiting game I understand that for sure! I was really upset about the entire thing last week but I am trying to come around to the idea, knowing that we will love this baby no matter what but just not knowing that something might be wrong is the hardest piece!

Thoughts and prayers to you!

LaVieEnRose3411

I didn't get tested, so I don't know what you're going through, but I did want to just tell you about my friends that had a scary experience.  They were told that their daughter would have DS... No, "there's a chance," just straight out that she would.  She came out perfectly normal and healthy.  They can't be sure of anything until the baby is here.

It still sounds like you have a good chance of everything being okay, and a lot of babies have soft markers go away by their next ultrasound.

Good luck, I'll be praying for you and you baby!  

Deannabee78

Thank you everyone for your support and prayers.  Definately means alot to have each of you give your personal experiences.  I felt so much better reading your replies and have come to terms with the fact that there's nothing I can do about it except pray. We are meeting with a genetic counselor and having another ultrasound next week and will go ahead with the new test, MaterniT21. 

 Thanks again! Don't know what I would do without the support of you ladies!