High risk NIPT result

[Lozu]

Hi moms , I just got my NIPT result which is high risk today . The midwife ( who called me to tell me the result ) said my result read 1 in 135 chance of having a down syndrome baby which is less than 1 percent and anyone with less than 1:150 will be in high risk category. I am advised to do CVS or amino . Anyone has this kind of figure from NIPT result and a great outcome? Should i be worried?

Not quite the same but I was pregnant with a little boy and he had Downs but also had a much worse genetic condition too so I had a TFMR but due to that my chance of having another baby with Down syndrome is 1:100 everytime after- i was pregnant again and that baby didn't have Downs and and I am pregnant 15+4 now and this baby was tested and doesn't have Downs either - I have to have CVS for the genetic condition so I know that my last two pregnancies definitely didn't have downs as they test for that too -hope that helps a bit?!

@BooMamaBear Thank you so much .It really help knowing any positive outcome from that percentage. Keep me in your prayer.

My test was 1/150 which is borderline - literally anything lower the NHS will send you for further tests. Paid for the harmony test privately and this came back as low risk 1/10000.

If your thinking of further tests I think the cVS hasa higher rate of mc then the Amnio.

If I were you I’d go for amnio, I had a 1:180 chance so the NHS wouldn’t test me, so we paid privately for the NIPT test (£400) but if I could have found a private amniocentesis test I would have paid for that as it’s a definite yes or no! We now have a 1:10,000 (lowest risk they give) from the NIPT but I still would have preferred a definite!

Thank so much for the advise moms . I have an appointment with a consultant to discuss my NIPT result this morning . I will update .

I had a 1/54 chance of downs and 1/14 of edwards - unfortunately he had edwards - but if my numbers had been like yours I probably wouldn't had had the CVS. The chance of miscarriage is higher than your risk. I'd pay for the harmony

I had a 1/36 chance of downs. Gave birth to twins yesterday and they are both perfectly healthy. I had the nipt (which came back low risk). If it had come back high risk I would have had a cvs. The risk of miscarriage is 1% with cvs/ amnio so perhaps do nipt first?

Congratulations @Robs20 !

Sorry you are going through this OP. I'm confused why people are recommending the harmony test, because NIPT IS the harmony test- just a brand of NIPT.

OP- have you also had the combined 12 week scan and bloods done? How did that go? What was the NT? If you are older, the percentages are always higher with the combined tests and can seem scary.

We paid for NIPT at 10 weeks with our 1st pregnancy. (4yrs ago now) I wasn't given any number out of 100 or specific chance though, other than high risk of Patau syndrome (trisomy 13). They did a detailed scan, which also showed obvious issues, cleft face, NT 6.5mm and other things. If the scan hadn't been so clear, even to us on the screen, we would have had CVS. We chose TFMR and the autopsy confirmed the condition.

What are the next steps for you? How far along are you?

I've just had an amino test on Monday (still anxiously waiting for the results) but after our 22week scan, our risk went down to 1:60 so we made the decision to have the test on the day. The hospital didn't offer us any other test than the amnios.. in terms of the procedure itself, it wasn't too bad, it's very quick and pain free..

Thank you so much all .... @Elouera my scan went well with NT 1.1 but the blood work was off. I had low papp 0.35 and a high hcg 2.25 At 37 the combine test put me in 1/39 for down syndrome . I had this issue with the same low papp 10 years ago when i had my daughter. I went through with no test and she was perfectly fine. This time because of my age i considered the NIPT and still show high risk but the midwife was very optimistic about 1/135 chance. I booked appointment to see a consultant. So confused .

@Lozu- Sorry, bit confused whether have already had the NIPT, in addition to the combined test?

Its good that the NT was so low. Write a list of questions you have for the consultant, as its easy to forget things at the time. Best of luck x

Was it a reflex NIPT?? I know some hospitals do the combined first and then factor in the DNA analysis of nipt too. Otherwise I thought NIPT was a 1 in 10000, or a low risk /highly unlikely result?

Hello again, I had a very strange but very promising result .I couldn't see the consultant because of short staff but the midwife discuss with the consultant before seeing me .Even the midwifes were very surprised to see 1/135 which is 0.74 percent chance with high risk category in NIPT . I was told most of the time it comes as 99 % positive with out any ratio or low risk. There must be something in my blood which gave this kind of result. I am calm now knowing the risk is low being categorised High risk . I booked amino in three weeks time. Thank you all for your time . I will update the outcome.

Glad you got a little reassurance OP

Update

I had amniocentesis yesterday and i got the result all clear back today .I am over the moon. Thank you so much for everyone who take a time to comment and share the experience. I hope my result give someone in the same situation a hope .

@Lozu- That's great news, thanks for the update. Congrats

Huge congratulations @Lozu 💖💖💖 xx

Phew! Great news

Thank you ! 🙏🏽🙏🏽🙏🏽

Hi there. Hope this is ok? I’m aware this original post was posted a year ago, but I just wanted to add my recent experience, as I know that for me reading positive outcomes has really helped me. So 2 weeks ago I was told my baby had increased risk of Down’s syndrome (1in 90 chance) from the screening tests done at hospital. I’m 36, pregnant with my first child and had IVF. Obviously it was an extremely worrying time for my partner and I. I had the NIPT blood test (privately at a local clinic, as we were told it’s not currently available on the nhs) and then came the horrendous waiting time for the results. This was an incredibly difficult and anxious time for us understandably. The results came back today all clear, negative for Downs syndrome. So we are feeling incredibly relieved, after a very traumatic few weeks. So I just wanted to reassure that for anyone else who finds themselves on this thread, that getting an increased risk result from the 12 week screening tests does not always mean the worst. I hope this helps anybody in need of reassurance.

@Foxfoxy this is so reassuring thank you - I am waiting for my CVS results currently and it is the hardest time