NIPT or Amnio test ?

(15 Posts)
Kailann Fri 10-Aug-18 12:13:08

They have confirmed nasal bone and did mention baby's heart will be checked on next scan so I'm presuming that's what their apts are for but its all a guessing and waiting game as to what happened next, hopefully someone can answer your question and put your mind at rest it's a very upsetting and situation to be in isn't it x

nickname7890 Fri 10-Aug-18 12:03:05

of course it is.

We had a few scans looking for "soft markers" eg heart, nasal bone present, femur length.

It is so nerve wracking - sending a massive hug your way

Kailann Fri 10-Aug-18 11:51:50

I'm only 12 weeks and 4 days we had our 12 week scan on Tuesday and we paid private for the NIPT yesterday apart from that and the NHS screening test we haven't had any other tests done I have been offered the amnio but decided against this until the NIPT results are back, we are booked in with the specialist at 17weeks and a referral has also been arranged at St Mary's Fetal Medicine but I'm not sure what tests/scans will be done at these apts it's a lot to digest at the moment x

nickname7890 Fri 10-Aug-18 09:41:11

Hi Kailann

Srry to hear that. How many weeks are you now?
is NIPT the same as Harmony test?
Have they been able to check development of other areas of the baby eg for soft markers?

Fingers crossed this is all resolves itself for you x

Kailann Fri 10-Aug-18 09:14:28

I am going through a very similar situation our babies NT fluid has measured at 7.16mm and we have been told to prepare for the worse as they think it's a chromosome abnormalitie we have decided to pay private for the NIPT test which was carried out yesterday as we too would also have to consider a MTOP if a possitive result as we've been advised of the very high risk of structural abnormalities, this baby was a real blessing as both me and my partner both lost very close family members on the same week so finding out we was pregnant seemed to be a blessing and some good news to come out of a very bad time and now we are both in total despair and worry, I would love to hear anyone's positive outcomes of being in a similar situation to try and put my mind at easy whilst we await the results x

nickname7890 Thu 09-Aug-18 07:08:23

Firstly - congratulations Needadvice11 ! So pleased for you and I hope you can relax now and enjoy the rest of your pregnancy.

I would really appreciate some advice for our situation.
Second baby (first fine), we had our 12 week scan and nuchal fluid fine (1.72 mm) and NHS screening blood test was fine.

Four days later we went for our harmony test privately and with the package we received another nuchal fluid scan. The harmony test came back low risk, but the nuchal fluid had increased to 3.2 mm (just 4 days after the NHS nuchal fluid test).THe sonographer also noticed tricuspid regurgitation in the heart, however as we were only around 12 weeks it was quite early and I was told this could correct itself. i panicked, went back another 4 days later to the fetal medicine unit at the NHS hospital, and they found 2.6mm and tricuspid regurgitation was not present that day. I went back to the private clinic where they had found the 3.2mm and the owner of the clinic (professor nicolaides) came and checked the scan himself. HE said there had been no error, the fluid on the day I first attended the clinic was indeed 3.2 mm but not he could also only find 2.6mm and I didnt need to worry.

I have tried to put this to the back of my mind, but the pregnancy has made me quite anxious. I have had a few more heart scans, all were fine and they have discharged me.
I had a slight worry at my anomoly scan, as one ventricle of the brain had increased fluid of 9 mm but yesterday, 2 weeks after the 9 mm reading it was down to 7.2mm, and the doctor has told me it all looks normal but to decide whether I want an m stil.

The issue is that I was given a 1:64 chance of chromosonal abnormality because of the increased fluid being 3.2 mm. The doctor at the fetal medicine unit yesterday said that the fact it went down to 2.6 mm is irrelevant, because it was 3.2 mm at one stage, it was increased and that increases my risk. But the risk of the top 3 chromosonal abnormalities - pataus, edwards, downs - is very low given my harmony results. She has suggested if iam stlil worried, i have an amnio at 32 weeks because she said then the greatest risk is that I go into early labour and at that stage would not be dangerous to the baby to be born at 32 weeks. OBviously, there is the risk that the result would be positive for chromosonal abnormality and (1) we most definitely would want to know if that is a genuine risk, before the baby is born and (2) I am so sorry if this does offend people, but I would consider a termination if it was a serious abnormality that would seriously compromise its life.

I am so sorry for the long long message but I just dont know what to do. IS this a genuine 1:64 chance? would you have the amnio?
I feel people have looked at the baby so many times and not seen anything, and harmony was low risk, but why was the fluid 3.2mm? I know in singapore they do amnio if fluid is above 2.5 mm...
please can anyone help? what would you do? x

TinyTerror1 Thu 17-May-18 18:22:33

That's great news OP! Now you can relax - you probably didn't even know how stressed you were! - and enjoy the rest of your pregnancy smile xx


Needadvice11 Thu 17-May-18 18:07:45

Result back ! And they're all clear lower than 1 in 10,000 risk . Thanks v much for all your kind words and experience

OP’s posts: |
TinyTerror1 Sun 13-May-18 20:20:53

The NHS test is an algorithm that calculates likely probabilities but is not very accurate at all. The NIPT actually picks up fetal DNA in your blood so is based in fact rather than probabilities.

Needadvice11 Sun 13-May-18 17:39:03

Thanks everyone , really appreciate your comments. I'll wait for NIPT results and if they come back saying I'm still high risk then will go for the amnio. I can't understand how some you had high risks i.e. one in four then NIPT came back 1 in 10,000

OP’s posts: |
Bunty1987 Sun 13-May-18 13:59:01

I have had both. I went with the NIPT first and that came back high risk so I then did the amnio. It wasn’t that painful. Good luck x

Takfujuimoto Sat 12-May-18 20:13:52

Agree with the pps, also wanted to add that I had an amnio without the anaesthetic and it didn't hurt, just a bit uncomfortable.

LaurenSarah22 Sat 12-May-18 19:55:41

I've got a 1 in 24 chance of DS. Now waiting for my NIPT results. Personally if you wouldn't terminate the pregnancy I wouldn't have an invasive test

TinyTerror1 Sat 12-May-18 12:55:41

If you get a positive result for Down's then I would only have the amniocentesis if you are planning to terminate. The NIPT is 99% accurate but you wouldn't want to terminate without being 100% sure. If you are keeping the baby then I would accept the NIPT result.

I had 1 in 5 risk of Down's and baby is fine (I had CVS) so try not to worry too much just yet. I went pretty crazy trying to work out what I'd do if I had a positive result. It seems much more clear cut when you're not in the situation I find. Sending you hugs xx

Needadvice11 Fri 11-May-18 23:38:04

I'm 16 weeks and got my quad results (bloods) through this week I was 1/50 risk for downs. Today I was booked in for amnio test but after talking to Obstetrician I decided to go with the NIPT and pay for it. Now I'm beginning to think I should have gone with the amnio test but the obstetrician kept reiterating the risk and pain of the amnio. Any advice on either would be appreciated , I'm now just keen to know the result and if I do get a positive from NIPT (baby has downs) should I also go for amnio after ? Thank you, I don't know anyone who's gone through this

OP’s posts: |

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