NIPT query

[chelle85]

I'm currently 5 +3 with first baby and had a first appt with midwife today. It was basically a pre-booking appt to check which hospital I wanted to be under and to give me pregnancy notes to complete before I go to booking appt on 9th Jan. I was surprised that thry don't even confirm pregnancy. . She gave me a booklet about screening and managed to terrify the bejusus about the risks of abnormalities saying she had seen several cases of Edwards/Patau recently

I have been looking at the private NIPT testing and was wondering if people normally choose to go for this straight away or only if their NHS comes back high? I am cocious that it says 10 -13+6 weeks for the NIPT - if NHS test is only done at 12 this doesn't give much time if it comes back high.

As NIPT is private and non invasive you can have it done at any time during pregnancy. The recommendation for it to be done earlier is so that if I think camelback with an increased risk result there is more time to perform diagnostic tests (cvs or amniocentesis), get those results which take up to 2 weeks and then make plans for the remainder of your pregnancy (ultimately decide to continue or end the pregnancy).

There is no problem in doing the NHS screening plus nipt if high risk, however, say you were scanned by NHS at 12 weeks exactly (unlikely), a high risk screening result in NHS takes up to 3 working days to come back, so could be 12-13 weeks. Then wait for a nipt appointment could be a few days to a week, so you're then 13-14 weeks... then 2 weeks for nipt result; 14-15 weeks... then amnio done between 15 & 16 weeks depending on the unit and their fetal medicine capabilities and capacity... you're pushing 20 weeks before you get diagnostic result.
Once your pregnancy hits 20 weeks, should you decide to then end the pregnancy it's not as straightforward to do so and could be emotionally and physically difficult for you.

I guess what I'm wondering is, if you can afford to do nipt without the NHS screening, why not do that?

Thanks for that. As it is my first I didn't really have much idea about NIPT until I came on here after reading the horrible stats in the booklet I was given. On paper it looks like a much more reliable test with less chance of unnecessary worry but it isn't cheap so just trying to figure out best options

Because NIPT is so new, there aren't many labs in the U.K which process it, which means that most tests are sent to the U.S for processing. I think eventually, NIPT will be available on the NHS as the standard test and the hope is that use of NIPT may eventually reduce the need for the amniocentesis too as it is believed to be 98-99% accurate. The problem is that there isn't yet the research to back it up to use it as a diagnostic test at the moment. That will come I think (and hope).

As it stands, you need to think carefully about the offer of screening as it often provides more questions than answers and more uncertainty.

Things to consider are:
If your result was increased risk (1:2- 1:149) would you want diagnostic tests knowing that they carry a 1-2% miscarriage rate and you could potentially risk a non-affected baby?

If the diagnostic test stated that your baby was affected, what do you think your next steps would be? You would be counselled regarding your options which are to continue with monitoring and support or to end your pregnancy. Would a positive diagnosis confirming an affected baby change the course of your pregnancy at all? How would you act on the result?
If it would make no difference, would you put your pregnancy at small risk of loss to know for sure?

Would the screening test alone be enough information for you, knowing that even a low risk result doesn't mean no risk of carrying an affected baby. With a result of 1:10,000 you could be the affected one or the unaffected 9,9999.

If you can afford it I would have the nipt- my NHS tests came back as 1/13, it was an awful week waiting for the results of the cvs. I wouldn't have the NHS tests again.

There is a place on Harley Street which can give you the results in 5 days, I think it is called the birth company.

I'm hoping to get the harmony test at around 10w then the scan at 12w. I can afford the test and I'd like to have the information as soon as possible but I can see the logic in waiting for the scan if you don't have the money or it will be a struggle to find it, especially if you are at a low risk.

The one thing I would do differently, now I have the benefit of hindsight, is to go for NIPT as early as possible, and not bother with the NHS screening. I came back high risk for T21, and we then had the worst ten days of our lives, trying to arrange NIPT and waiting for the results. And then it all worked out fine, and it was all for nothing.

If you can afford NIPT, do it. It's worth it.

I am currently 9 wks pregnant, and I have just booked myself in for the NIPT with 'ultrasound direct'. This was prompted by both my age (37) as well as experiencing two mcs this year.

Midwife at my booking in appointment more or less encouraged me to do it, said it was worth every penny of the £400, and she anticipated it would be routine on the NHS in the coming years. I understand many NHS hospitals have trialled it with very encouraging results.

I'll get a detailed scan, blood test and results in 7 days. Finding out sex is optional - think I'll opt out of that one as it's still early days. All being well, that little bit of news can wait until the 20w scan.

i did what laf22 did.
Basically I'm 39, NHS routine came back 1in5 for downs. Had the scan and bloods done through ultrasound direct in Manchester and had my results back in 3 working days.

I could of just had a amniocentesis but i was bleeding at the time and with a small risk already there i decided today the £400. To me it was worth every penny

Thanks for the opinions. I am definitely leaning towards having the NIPT instead of NHS tests. I am only 32 so don't have age as a risk factor or any history of chromosomal abnormalities in the family but I think the peace of mind would be better. NHS class 1/150 as low risk but some people get 1/10000 so if it came back in the 100's I would still worry as I can't see how both those numbers are "low"

And the NIPT can tell me gender so I can get on with planning the nursery!

Exactly, i found out the gender at 14 weeks, by choice but 100% accurate as they go by the DNA.

Good luck

chelle that's exactly how I felt and I'm very glad I got the test done. Key factor for me was to have the information early so we can decide to have amnio or CVS if needed and make our own decision on what to do.

Chelle just an update in case you're still debating what to do: I went for the test on Thursday and got the results today, which were 'normal' and 'low risk'.

The sample was processed in London so very quick response.

It was a good experience: very friendly, relaxed and professional.

It's of course important to remember the test doesn't claim to be diagnostic, but a 99%+ accuracy stats certainly helps to reassure.

Good luck whatever you decide to do!

I went for my NHS 12week scan on Tuesday but the baby wouldn't sit still long enough for them to take the measurements! Or at least not in the right position. So as you only get one shot at the ultrasound (admittedly the sonographer did try three times after wees/jumping on the spot/running around the carpark!) we are faced with only having the blood test part of the NHS screening, which doesn't test for everything and is only 75% accurate without the ultrasound.

So we have decided to pay the £400 NIPT test and have it done privately. Knowing the sex is a bonus in my view anyway!

Hi im 16 weeks pregnant and i have low papp-a (0.28). And down syndrome risk 1 / 123. I did nhs NIPT test twise and failed. ( they couldnt get find chromosome and get any result). I dont want to go for amnio test. Please can anyone tell me if its worth doing private. Im So stressed and helpless. If anyone had similar experience please advice me what to do. Thanks

@Deeps123 have you contacted Arc? They’re a really great charity that can offer advice on your next steps. Think their phone lines will be closed now but their email is monitored overnight.

I’m going through the same at the moment. 1:31 risk of DS and waiting for NIPT results :(

Thanks so much, I've never heard it before. I will contact them tomorrow. Thanks again for you helpxx

@deeps123 no problem! I spoke to a lovely person earlier this week and it made me feel so much better. Here’s their details www.arc-uk.org 0207 7137486. Best of luck xox

Does anyone recommend a provider for NIPT please?