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NIPT test questions

(19 Posts)
Scarlett555 Thu 17-Oct-19 09:00:07

Please can anyone share their experiences of having the Harmony / Iona tests?

What were the stats given by the NHS and what were the results of your test?

Had a call yesterday to say my baby is high risk of having Downs due to fluid behind their head at 12 week scan and protein in my blood. I am also late 30s. The stats they gave me are 1/134 which doesn't seem too concerning but still want to know.

Thanks.

Nanmumandmidwife Thu 17-Oct-19 09:25:13

The combined test combines various info (your age, unchallenged measurement and 2 hormones in your blood) give an estimate of the chance of Down’s syndrome ( and Edwards and Paramus if you are in England). A chance of 1 in 150 or greater gives you NHS funded access to additional testing. In some places but not all NIPT (eg Harmony, NIFTY, SAFE) is available or you can have an invasive test.
The combined test is not very accurate, having a high false positive and false negative rate.
What was the nuchal measurement? If it was more than 3.5mm NIPT would not be the test recommended by most specialists
It is important to be aware that NIPT does not give a definite answer, it is not a diagnostic test, but is much more accurate than the combined test.
Is Down’s syndrome a major concern for you? Do you have much info about it?

Nanmumandmidwife Thu 17-Oct-19 09:26:59

Thanks autocorrect! It has changed “nuchal” to “unchallenged” in my first sentence which makes no sense at all!

Scarlett555 Thu 17-Oct-19 10:22:30

Thanks so much for the reply Nanmumandmidwife the nuchal measurement was 2.9 which the midwife says was high but obviously not above the 3.5. I'm not sure what the proteins were.

Downs is a concern as we have no family support and my partner is a lot older than me so I am not sure what we will do if the harmony test says Downs is likely.

Conorgog Thu 17-Oct-19 10:40:44

My combined test gave me odds of 1/114 - that was with a 5.5 or 6.5 Nuchal measurement - but the 12 week scan showed other markers of downs - no nasal bone and heart abnormalities. - we opted for a cvs - which was faster and is diagnostic - harmony just gives you odds I believe.

Fingers crossed everything is okay for you!

Scarlett555 Thu 17-Oct-19 10:45:52

Thanks for the reply @Conorgog

Do you mind me asking what was the result? Did your little one have Downs?

PumpkinKing Thu 17-Oct-19 10:51:24

I was given odds of 1 in 49 for Downs as DD's nuchal measurement was 4mm and I had low Paap-A of 0.88. I was given the NIPT on the NHS and 5 days later received the results. They were something like 1 in 100,000 for all three Trisomies that they test for. So basically I could take that as an all clear result. I had to have two ultrasounds to look a DD's heart just to rule that too as that could also affect the nuchal measurement. But that was all good too. DD was born healthy without any complications or health conditions.

Conorgog Thu 17-Oct-19 10:54:50

No that’s okay - yes we had a downs diagnosis and yes we opted for a Tfmr - as I said it was already obvious from the scan that we had problems - so given your N measurement isn’t that high - you have good odds everything is okay!

Good luck!

Nanmumandmidwife Thu 17-Oct-19 11:36:36

@Scarlett555 a nuchal of 2.9 is well within the normal range, so NIPT would be a very reasonable way to get more info. Are you getting it paid for by the NHS?
Yes, I understand why you would need to think long and hard if it is likely that your baby is affected by Down’s syndrome.
It will be a long week+ for you as you wait for results. Do shout if you want to talk, either now or once results are back

MatchyMatch Thu 17-Oct-19 11:51:56

I had very high results of 1 in 3 from the combined test. I opted for the NIPT because I didn't want to take the risk associated with invasive testing like an amnio. As a PP says the NIPT is not diagnostic (which is to say it isn't 100% accurate) but it is highly accurate - I was told 99.9% chance that my child would be born with Down's Syndrome.

I also have little family support and have an older child too but the NHS and social care support for DS is well established. My little girl is 3 now and I've never really felt I needed extra support. Anyway I wish you luck with the result and whatever you decide / if you are interested in finding out more about DS and the local support available I highly recommend the DSA (Down's Syndrome Association) website and finding a local group to talk to.

Scarlett555 Thu 17-Oct-19 12:23:39

@Conorgog thank you for sharing and I am sorry you had to go through that. It must have been a tough decision thanks

@MatchyMatch I am glad you are your DD are doing well! Thanks for pointing me in the direction of the DSA.

@Nanmumandmidwife thank you so much. Unfortunately we can't get the NIPT on the NHS in our area so paying to go private. Test at 4pm today so assume we will get the results by this time next week.

Nanmumandmidwife Thu 17-Oct-19 18:34:00

For some insight into having a child with Down’s syndrome can I suggest Positive About Downs Syndrome and Don’t Be Sorry? Both on FB. Also a book just published by Sarah Roberts (who writes Don’t be sorry) is For the love of Oscar.

Cakeeater100 Sat 19-Oct-19 04:58:28

I was given 1 in 75 risk for Downs syndrome from the combined test due to low PAPP A and my age. Had Panaroma test done, it was 1 in 100, 000. DD born without Downs and is perfectly healthy.

CycleWoman Wed 23-Oct-19 17:32:49

I had a NT measurement of 3.2 and a risk of 1:250 for DS. I opted for NIPT as the sonographer kept banging on about the NT measurement at the same time as telling me I was low risk. So I felt really worried.

NIPT results came back very low risk. Got them back within 6 working days

Scarlett555 Thu 24-Oct-19 10:41:42

Thank you for the replies @Cakeeater100 and @CycleWoman

I got my result last night and it's come back low risk, 1 in 10,000. Really glad we did the test, definitely worth the money to get that reassurance.

Also now know I'm having a boy! Nice little bonus to find out the sex early.

K8j88 Mon 28-Oct-19 14:38:33

Hi so I’m in a similar situation which my initial blood test screening for all 3 has come back with a positive for Down syndrome in 1-140 so I am going back Friday for NIPT test. I am so worried but it’s lovely to hear all of your experiences ladies.

Liseerhesy Mon 04-Nov-19 13:59:49

Hi I had a complicated pregnancy in 2014 . I have two healthy boys 16 and 9 I am now just turned 38 . My last pregnancy was positive for downs after lots of confusion at the hospital as they couldn't do the amio as the placenta was not fused. In the end they recommended NIPT. My NT was 6.8!!!? The most accurate measurement.
This time I had my scan last Thursday at 11 week baby's NT was 3.2mm . And bloodys Papp-A 0.37 and Hcg 2.77 . So given past and age and these factors I have 1:5 Chance. I've booked in for NIPT In Manchester tmro at " this is my" . I am confident I am only 11 plus 5 but last week they insisted I was 12 (baby measures 0.46 crl) . My dates were pretty accurate for last mp.
.just looking to help others and read peoples stories and any advice from Midwife's out there . My Fetal anomoly MW was kind on the phone . She has explained that it is not a diagnostic test and encouraged me to get the NIPT. ITS such a shame it's not available on the NHS . I was told when I had my last DS pregnancy that it would be available from spring 2016!!!!
I will have a scan tmro also at "this is my "
Does anyone know how detailed the scan is as I'm curious as to if they will confirm the nasal bone looks ok?
Good luck to everyone going through similar heartache. Last time was so painful I can't believe I'm going through this yet again. I'm.also looking to see if I can see what my pregnancy hormones were last time .
I've just been sat in bed so going to try and get my act together and go out to get some nutritious food! smile

Liseerhesy Mon 04-Nov-19 14:03:23

I forgot to say she did tell me a couple of situations where the lady having her first baby at 25 yo was given a 1/ 4200 chance of DS but gave birth to a beautiful DS girl . She wouldn't change anything! And said she didn't know . And then another lady given 1:5 the Same day and didn't have a DS baby .

Liseerhesy Mon 04-Nov-19 14:04:06

How did you get on thinking of you ? 🙏

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