Trisomy 13 and 18

[surprisepreg]

I just got back the results of the blood test from my first trimester screening and they said I'm at risk for trisomy 13 and 18. I'm freaking out. I don't know what to do. This is my rainbow baby and the thought of something being wrong is awful.

 

[wildflower79]

Hi, I'm really sorry you've had such worrying news

I'm not sure which screening test you've had done and how accurate it is? I know the one they do here in 1st tri in the uk isn't always very accurate.

Have you been offered a cvs or amnio?

There's also a private blood test, that carries no risk and is highly accurate.

 

[surprisepreg]

Thanks for the reply! I'm not sure what blood test it is but it seems to be standard around here as part of the first trimester screening that's combined with an ultrasound.

I'm going in Monday morning for further testing. They said I had a choice of another blood test or a test where they take a sample of the placenta for analysis. The blood test will take about 2 weeks for results. If it still showed risk, I would need an amnio at 16 weeks. The other test in more invasive and carries risks, but I'd know much quicker and it would be more definitive.

I don't know which to choose. I dunno what to think. I feel so completely helpless and upset.

 

[wildflower79]

It's a horrible situation to be in We lost our baby girl to t18, so I know how scary and confusing things are.

The blood test sounds like the Harmony (among other names) test. It's not 100%, but its around the high 90's % accurate, it also carries no risk to the baby.

The amnio will tell you 100%, but carries about a 1% risk of causing miscarriage.

I really struggled choosing but in the end we had the amnio, mainly because I was in such an anxious state I couldn't wait 2 weeks to find out. We actually got the results back the next morning.

Did they pick up on any markers when you had your ultrasound?

There's still a good chance that everything will be ok. Lots of ladies get high risk results in the screening tests, but go on to have perfectly healthy babies. I know it's impossible not to be so worried though x

 

[wildflower79]

Sorry forgot to say, the other test where they take a sample of the placenta sounds like the CVS. I was too far along to have that, but think it's similar to the amnio.

 

[surprisepreg]

I was thinking harmony was prob what they were offering too. It seems most likely from the research I've done since they called.

I did not have any markers on us, BUT, baby was not cooperative and I'm significantly overweight, so the combination led to reduced clarity. I was at my regular yesterday and she did a quick scan to check heartbeat (Doppler doesn't work on me yet) and it was much clearer (baby wasn't moving as much as the other day), but she wasn't looking at it diagnostically.

Right now I'm leaning towards the blood test first (although waiting two weeks for results just sounds like torture) because I'm really worried that the risk from the other test may be increased by my weight. They didn't indicate that over the phone, but it seems possible to me.

I'm so sorry about your daughter by the way, that's so rough.

 

[Qmama79]

Didn't want to run. Sorry you have to spend the next weeks in limbo. Try to stay positive & optimistic. I hope baby is okay.

 

[surprisepreg]

Hey everyone. Just came from the dr. They did another ultrasound and said from what they could see, it looked good. We discussed the issue at hand. Turns out my PAPP-A level was very low at 0.16. This alone (I believe?) put me at a increased risk (1:34) of trisomies 13/18. I had the next blood test done and going back in 3 weeks for another ultrasound.

Thoughts?

 

[wildflower79]

That's really positive that they didn't find any markers on the ultrasound, especially since they would have been specifically looking for anything related to t 13&18.

I know low papp a can be an indicator of a genetic condition, but it isn't always the case. I remember reading of ladies that had low papp a, but went on to have perfectly healthy babies.

I really hope your blood test results don't take long to come back. I know how worried you'll be for the next couple of weeks x

 

[Matilda85]

I had low papp a with my first (.34 from memory) and he has no problems whatsoever. It can be a sign of iugr later in pregnancy so they'll likely monitor you closely. No idea why mine was low given he was an 8 pound baby and is now a giant 3year old. This time round, my levels were all normal when I expected it to be low again.

 

[Matilda85]

Forgot to add, it put me at high risk with him for down syndrome just because of it. I ended up opting for an amnio because I had to know either way. It's such a tough call but the risk for amnio is really low and my obstetrician said it really doesn't differ from the percent for women who naturally miscarry at that stage of pregnancy anyway.

 

[Rhi_Rhi1]

Sorry I don't have any advice, but i clicked the thread from the main page by accident and then felt terribly rude in not saying anything.

I hope everything works out for you

 

[surprisepreg]

Thank you everyone for sharing your stories and support! I've managed to stay calm
Since Monday and just trying to distract myself until the blood test results come back. I've been doing a pretty good job keeping it out of my mind 90% of the time. Please keep baby in your thoughts and prayers. I just want her (or him) to be okay.

 

[Willow01]

Good luck with the results when you get them, I am keeping my fingers crossed f y and baby. Let us know how you get on. Thinking of youx

 

[surprisepreg]

Hi everyone!!!

I got my results today! It felt like it took forever. I managed to miss a call from the dr yesterday, tried to call back but office already closed. Then I realized that the dr who called was the head of the whole maternal-fetal medicine department, so I started panicking.

Called bright and early this am and spoke to a nurse. She did not have my results on hand and said she would get a dr to call me back. She kept calling me "sweetie" which made me even more nervous.

Well, she called back about 10 minutes later, said she had found my chart and wanted to call right away. My NIPT was NEGATIVE and I'm having a little girl!!!! I just cannot believe it!! I am so very happy and thankful!

 

[Rhi_Rhi1]

That's amazing and congrats on a girl =)

 

[Hopeful1479]

Just read through your thread, i am so happy this all worked out for you and your little girl is well!!

 

[Nikie]

Yay congrats! Girlies are the best

 

[wildflower79]

Just read your update. So happy to hear everything is ok xx

 

[winterbabies3]

So happy everything is okay for you!! And congrats on a girl♡♡