NT and NIPT

[JMmumtobe]

Hi everyone - I have had a rollercoaster of a week and would love some advice. We had our first scan done at C&W with a NT result of 3.5mm. In light of this, we were referred to consultant who rescanned (the following day )and meaured NT of 1.4mm (at the highest end). The combined test result used the 3.5mm with .91 bHCG and .99 PAPP-A and the result has come back as 1 in 5 for DS. I have just done the NIPT and I am wondering whether even if this comes back as low risk, whether I should get CVS or amnio for reassurance or whether any one has any views on the accuracy of NIPT? Thank you so much in advance (BTW I am 12.5 weeks and first time mum (I hope...))

So sorry you’re going through this, totally understand you worry and million questions going through your head. My scenario slightly different so may not be of help but hopefully others with more similar experience come along. Had my 12wk scan couple of weeks ago now which gave alarming 5mm nt so referred to Fetal Medicine, much to Dr shock my overall screening results came back low risk but cos of high nt she said they still had ‘significant concerns’. Because of this I went straight to CVS. I would take a lot of positives of your nt going down so much, mine went down a few days later but only to 4mm, but appreciate a 1 in 5 chance of DS is very worrying for you. I would say if NIPT comes back low risk combined with now low nt that’ll be really positive, but ultimately if I were you I would book in for thorough discussion with Dr once you have NIPT results, see what they think, and if you have even the slightest niggle if they’re low risk, probably go for CVS or Amnio. Wishing you so much luck, I too am hoping this pregnancy will make me a FTM, currently 14+2 and awaiting microarray results hopefully due tomorrow, which is making me petrified. Take care x

Thank you so much for taking the time out to respond. I really hope your results go well tomorrow. I would also like to do CVS I think but slightly worried about the mc risk although it doesn’t seem to be such a concern on here? Please let me know how it goes for you. Thinking of you ❤

The risk of mc I was given was 0.5% but for me it was worth the risk because I needed diagnostic answers because of how terrified they basically made me that something was wrong. I also thought, odds are if I was to mc it was more likely because baby was ill rather than the procedure. The procedure itself is fine, they scan before, during and after to make sure all ok which helps put your mind at ease somewhat. It’s the waiting for answers which is hell! X

From my combined screening I had 1 in 64 chance of DS with my 1st. I did the NIPT and it came back negative. There's such a low chance the NIPT is wrong about DS I decided not to do any further testing.

@OneDayHope thats a very good point, I hadn’t thought of that. Thank you and thinking of you today. Please let me know how it goes if you are happy to share ❤️

@RickiRaccoon that’s really good to know and hear. I will bear that in mind. Thank you for taking the time to respond, it really helps.

Just to update that both CVS & Microarray back clear, no evidence of disease/chromosomal issues. Going to relish in the feeling of relief as long as I can until the next stage which is scan (because it won’t be long until the panic sets in for that!).

Got my fingers crossed for you that your NIPT comes back low risk, thinking of you x

Thrilled to hear!! And thank you :) xx

Hi - just wanted to say that we got our results from NIPT and we have a low chance of the three syndromes! :) Our midwife spoke to the lead sonographer who thinks the first scan was done at a sub optimal level which is why the NT was so high. We have told no one but our in laws that we are expecting so I am excited to finally tell people...just need a few days to get over the trauma before I do!

Amazing news! What a relief, enjoy every second of sharing your news 😊x