Worried. Quad screen came back with abnormalities for neural tube defects. -Update-

PeanettyGoodness

I just got a call that the results for my 20wk quad screen came back and there were abnormalities for neural tube defects. The down syndrome portion came back fine and my doctor told me that normally with this type of abnormality with the test it's a neural tube defect, most likely spina bifida. Early on in the pregnancy, they did find out that I was having twins, but one was lost before 12wks. She told me that this test normally comes back abnormal if you are having twins and that it may still have come back abnormal for me because I was having twins at one point. I was referred to a high risk doctor who will do a high level ultrasound next week, but I'm worrying so much and the wait is going to be a long one. Has anyone else been through this? How did it work out for you?

Update!

Just got back from the high risk OB not too long ago. The little guy's spine, heart, stomach, brain, etc, all look great! We were told that it was most likely because it started as a twin pregnancy. He mentioned doing an amnio, but said from what he saw on the ultrasound, there is a 2% chance that the baby has any issues that may be making the AFP levels high. So, with the 98% chance that all is great, we opted out of the amnio. I was asked to come back in 10wks for a totally different thing concerning the placenta, but we're so happy that all is well. Thank you all for the positive words, thoughts, and prayers. It was very much appreciated!

jennjilljo

I'm no help but I'm sorry that you're going through this. You and baby have my thoughts and prayers. Best wishes for a healthy LO.

MaddScientist

Did you already have your anatomy scan with your 20wk blood work? Did the u/s tech see any spinal concerns or indicators of spina bifida then? My sis had high levels for neural tube defects and they just spent a lot of time at the anatomy scan looking at the skull/neck/and spine - and, when they didn't see any further anatomical indicators, assumed the baby was normal (which it was). 

I think the u/s next week will provide a lot of answers for you, and you should focus on the increased chance of false readings with your lost twin and the fact that even elevated numbers don't actually mean that something is definitely wrong, just that you have an increased risk of there being an abnormality, while you are waiting. Good luck.

PeanettyGoodness

I'm not exactly sure how to do the tagging, so lets see if this works. 

@jennjilljoiteThank you. I really appreciate it.

@MaddScientist Yes, I had the blood work done the same day I had the A/S done. The tech told us that everything looked great and even told us the same thing when we had to go back for a second ultrasound, since the little guy was being stubborn and wouldn't let the tech see his legs.

Thank you. I'm trying to focus on that and trying to tell myself that it was just because of the lost twin. But, I can't help but be worried, no matter how positive I try to think about it.

Irishcurls

My thoughts are with you, it must be scary being in limbo. I had the same question as @maddscientist though, the a/s would be more indicative of spina bifida at that point, since they would be able to see the abnormalities (that's part of the scan's purpose). It's important to keep in mind that the blood markers are just screenings, and can be false positives. I would hold on to the good a/s results and keep us posted on the u/s next week!! 

mishka29

Sorry you are dealing with this. Fx everything is okay!

chickyclg

I have received extra testing because I have a family history (sister) that involved a baby DX with Spina Bifida.  Unfortunately that is not a happy story, but I wish you the best of luck for a happy baby.

ems0523

Good luck at your follow up ultrasound. I feel like if the tech indicated that everything looked great then there should be minimal cause for concern. There would have been spinal abnormalities spotted at that time. Keep positive and i'll be thinking and praying for you and you LO.

PeanettyGoodness

Thank you all for the replies and well wishes. After reading what yins had to say and looking into things a little more, I feel a bit less worried and just will keep my fingers crossed that all will go well next week. So, thanks for the help! I will definitely post an update after we find out what's going on.

barrett36

I had concern for spina bifida and was also sent to a high risk dr. Everything was fine!! I was panicked as well, I am sure it will be okay!

lailou

Hoping your scan comes back fine x

wintersong139

T&P :-( Hang in there. You are right to try not to worry, there are other reasons why a screening might come back abnormal--that's why its a screening, not a diagnostic test.

plumpous

I know this post is old but thank you for the information. I just got a call from my doctor with the same news. My pregnancy also started with twins. I am crossing my fingers that this explains the high levels. Still worried, but hopeful.