Down syndrome

[mjpcphjp]

I've just had a NIPT carried out and was given my blood results. I have 1:77 chance of downs. My hcg is 68nh/mL MoM 1.89. Papp A 170U/L MoM 0.42. Does anyone know what the average of each of these should be please? I was 13+4 when I had the initial blood test and did have Pgd/ivf for this pregnancy because my daughter has cystic fibrosis so am
aware that fertility treatment can trigger a higher hcg level but cannot find what average of both hormones should be. Thanks.

Did you have the private NIPT or the nhs triple screen test?

PAPPa and hcg mom values should be 1 for each to be considered " normal"

NIPT was done on nhs today. Hcg was 1.89 so that isn't too much higher than 1 so seems that is ok. Papp a was 0.42 so low. Scan was fine though with nuchal of 1.7mm so I'm hoping low Papp a isn't associated with downs and my age is the main factor x

When will you get your NIPT results back? That will give you the definitive answer xx

My triple test was hcg 2.4 and PAPPa at 0.4 but my NIPT ( harmony test) came back as no downs

I get my NIPT back next Thursday. I have a provisional amnio also for Thursday. NIPT comes back high or low risk and I've been told if low then it's a 1:1000 chance of downs. Nuchal was normal so I'm hoping the fact I'm 39 and undergone ivf for this baby is why my chance is 1:77. I'm going out of my mind as NIPT still carries a risk x

My hcg was 2. something (basically more than double the base rate). My papp was about 0.80 and nuchal measurement was within the normal range (albeit at the higher end) - sorry, I can't find my results so don't know the exact measurements.

I have the Nipt and the results said 1 in a million chance. I haven't given birth yet so there is still a very small risk but broadly speaking I'm satisfied particularly as the nasal bone is clear on the 12 week scan. If the results had come back with a lower 'low risk' score like 1 in a 1000 I would have had an amnio too.

My midwife said my results would not ordinarily be too concerning, she said it was the results combined with my age at 36 which tipped it into the 'at risk' category.

I hope the results are positive.

Thanks for your reply. The NIPT now comes back as low risk or high risk, they don't give you a ratio but what the midwife has informed us together with the booklet the nhs produce is that a low risk means less than 1:1000 woman have a baby with one of the conditions they test for. I know 39 years old puts me in high risk alone and have now read that ivf medication can result in high hcg and low Papp a levels so we are praying this is the reason why however, I'm also very anxious that of fact comes back low risk then there is still a risk eeeks! We have a child with a life limiting condition so I guess being human isn't filling me with positively at the moment x

My NIPT has come back low risk, it's a relief but I'm now panicking something will still be wrong. Any advice please? X

@mjpcphjp I am the same I am a bit of a worrier though! I'm going to try and relax more now that I have the results, I'll feel better even more after my 12 (well 13 actually) week scan and I can tell people :) . I got my results yesterday.

Go with your nipt- you will be fine, I am sure- it is pretty accurate esp in comparison to the combined test.

Your nuchal is good and I know that age massively impacts the chances on the combined. I know someone who had 1 in 150 on combined and 1 in 120000 on the nipt

Thanks ladies. The NIPT no longer gives a ratio, it's high or low but the chance of low and downs is1:1000. It's been tough. I do need to relax now as it is 99.9% accurate in comparison to the initial combined at 85% and a 1:77. Perhaps I should take up meditation haha x

Low papp-A ups the Downs Syndrome risk. I assume you've been told about taking mini aspirin and extra growth scans at 28, 32 and 36 weeks. Plus you end up on high risk pathway - 2 weekly midwife checks - but assuming growth is ok would be allowed to use the MLU if that's what you want.

Am now 32 weeks with low papp-A and apart from anaemia (which I avoided last time) all going fine - no issues with 20 week scan.

Being unclear at this time of the morning. Low papp-A increases the risk on the combined test mine was 1 in 50. The nifty works on picking out baby's blood from yours and then checking the chromosome so even if the stated risk is 1/1000 that's for legal reasons because they could miss something. My combined test was about 1/50 but is irrelevant beyond the low papp-a affecting the scans + being told to take aspirin.

I think it's less than 1 in 10,000 with the NIPT? I've just had my results form back and it says less than 10,000. Its also what I had read before with harmony that it was out of 10,000 but could be different for different tests maybe. On my form it says results less than 1% 10,000 low probability, over 1% high probability. I think because it's so accurate it's basically low or high and most are low :)

Mine also came back with the ratio 1:10,000 for my Harmony NIPT with wording low risk next to it.

If you're still feeling anxious then perhaps you're best speaking with your midwife who can refer you to a specialist who can discuss your anxiety issues and help you get clarity.

Best of luck

Thanks all. NIPT I had done on NHS as i live in wales. The booklet states low or high and less than 0.1% are affected by downs as part of this test. My nuchal was fine and my maternal age was always going to be against me. Nothing has been mentioned about retesting the Papp a bit I assume the 20 week scan will pick up any growth issues. I have to see consultant on 16th October because I have a history of epilepsy and also had a c section and luckily this consultant also is the one that carries out the amnios so I'm
Sure she can put my mind at rest.
These things are surely sent to try us aren't they x

I know it’s hard, but I think you now need to relax. Sounds like they are now covering their backs with the 1 in 1000!

If you had initially had that on the combined would you have been worried? I’m guessing not?

Ignore the combined result, you are low risk. There’s always worries with pregnancy and you won’t be able to stop worrying till you have babe in your arms.

Thank you. I feel abit better as the days are going on and trying hard to change my mindset. Had an early gender scan yesterday and we are having another girl and all looked healthy and good so that's helped abit too. Your right if combined test was 1:1000 then I wouldn't have had to have NIPT test so that's a much better way of thinking about it

Congratulations on your girl @mjpcphjp 😊 try not to worry. It's an individual choice but I am satisfied with the NIPT result being enough, I don't want to risk miscarriage with an amnio. We're having a boy (I like to be prepared so didn't want gender surprise!). I've had 4 scans (I was in EPU) and got my 5th (13 weeks) next week so I'll feel better after that one too :) then I can tell people, I get nervous before scans!

Thank you. I'm feeling much better now and positive all will be fine. Congratulations a little boy, how lovely. It's a horrible situation to go through isn't it but seems all will be ok for us both x

Thank you @mjpcphjp :)