NIPT results question.

ruemcclanahan

Has anyone ever gotten not great news on their NIPT.
They just called me and said that I'm showing high risk for down syndrome.
I'm devastated.
They are going to get me an appointment ASAP with the high risk OB and go from there.
They told me not to freak out yet and they see this all the time and the baby ends up being okay.
I'm just looking for some encouragement here 😭

MelissaMay82

@ruemcclanahan I’m so sorry that you are going through this. I don’t have any personal experience with this but I have heard that they will occasionally just repeat the NIPT blood test to see if the results were inaccurate or they might go straight for an amniocentesis or cvs and I’m also assuming an ultrasound at some point in the process. I hope that they can get you into high risk OB quickly!

mindyb2019

@ruemcclanahan oh no! I’m so sorry you have to go through this. I’ve been there myself. My previous pregnancy was the exact same thing. I was high risk on my NIPT for T21 Down syndrome. Unfortunately I don’t have any encouraging words for you. On my end it wasn’t good. I went straight into the amniocentesis and that also confirmed right away that he did indeed have Down syndrome plus other things which made him very sick. He didn’t make it. It was very heartbreaking. I hope things are different for you. If you have any questions, feel free to PM me anytime. I’m always available. Sending you lots of love ❤️

sgrn18

Hopefully they get you in soon and you can get some answers.  My 1st pregnancy Labs came back high risk for spina bifida (I think it was 1:41 chance). They rank your risks like that so there is still a good chance everything will be okay.  I know it’s hard to believe that though when you’ve got these test results and your hanging in limbo until you can see a high risk OB.  Keep us updated girl, I’ll be thinking of you. 

mc0303

I’m so sorry that the results indicated that. Have you gotten an NT scan? I’ve heard the same as @MelissaMay82 in terms of next steps. Really hoping it everything goes quickly and you can find out ASAP. 

ruemcclanahan

I just got a call they scheduled me with my high risk OB for next Wednesday.
They said I'll have another ultrasound, more bloodwork and then we can discuss where to go from there.

@mindyb2019 I thought of you immediately when. I got the results. So much love to you ❤️

wendy838

Sorry to hear you're going through this. Thinking of you and keeping my fingers crossed for next week. 

akoros

Oh no,  I'm so so sorry. I had a high-risk NIPT result in my first pregnancy (which we got after my NT measurement was literally off the charts). Like @mindyb2019 my story didn't have a happy ending, we wound up terminating after a diagnostic test confirmed that our baby had Trisomy 21 and severe cystic hygroma. You're not there yet, there's still hope, but I know what an awful place you're in right now. You're welcome to PM me if you'd like to talk

ruemcclanahan

The nuchal fold was 2.2 mm on the ultrasound at 12 weeks so I figured we were in the clear?? I'm holding on to that result trying to stay hopeful

akoros

It's good that the nuchal fold was normal. Neither test is diagnostic or certain. Like someone else said, they're designed to estimate your risk before moving to diagnostic tests which are more invasive,  and are far from foolproof. There are many pregnancies that get an abnormal result at this stage that wind up being fine. The uncertainty is so stressful, though. Hang in there, I'm glad they were able to get you in soon and can get you more information.

angelz429

My first pregnancy 11 years ago I got news that he was high risk for spins bifida, but NIPT wasn’t a thing so we didn’t find out until 16 weeks. There was likely a small neural tube defect that self corrected because everything was fine. But i had days to decide if I wanted an amnio and figure out what I would want to do if I got not so great results. 

I do my NIPT on Tuesday, and I’ve been Uber anxious this past week. 

ruemcclanahan

Just talked to the MFM oB and she was like "I'm not worried about you at all, your risk is 1:274, basically I have the same risk as someone who is 34 but since I'm 27 it flagged as high risk.
She said that since the scan was normal that she isn't worried and I shouldn't be either.

I'm getting the more accurate blood tests just for peace of mind but I feel much better now ♥️.

And bonus I get to find out the gender! Woot!

ruemcclanahan

Thank you to everyone for your kind words I truly appreciate you all 

_orchid_

@ruemcclanahan that is great news!! Glad your Dr is not concerned and that your scan was normal!!

akoros

@ruemcclanahan Thank goodness! So glad they're not concerned and all is looking good

MelissaMay82

@ruemcclanahan that’s great news!

DoubleUp8

@ruemcclanahan I'm so glad your doctor isn't worried! I hope the new blood test helps to put your mind at ease!

laurad75

@ruemcclanahan I've been thinking about you all week and so glad to hear that the doctor isn't concerned.  How scary for you though.  

legallykate

@ruemcclanahan So glad to read this update, but that is annoying that it wasn't explained better to you before and that you had to worry unnecessarily! 

mindyb2019

@ruemcclanahan I'm so happy to hear this news from you. I've been thinking about you. Im really glad your Dr isn't worried about it. 

ashleyjillian15

@ruemcclanahan so happy to read this update! I can’t imagine how stressed you were feeling, I hope this brings you some calm 

ruemcclanahan

legallykate said:

@ruemcclanahan So glad to read this update, but that is annoying that it wasn't explained better to you before and that you had to worry unnecessarily! 

I agree!! I asked over the phone what the risk was and she was like the doctor will tell you in the meeting. Like I was imagining it was 1:5 or something

akoros

@ruemcclanahan Ugh, for stuff like that they really need to either have the doctor call you directly or clear a message for whoever does call you that includes "don't worry". Or, like @legallykate said, explain more clearly ahead of time what the test is saying. My results have always been very clearly bad or good, so I never thought about the details very much