High risk combined screening, low risk NIPT, can I be reassured?

[Sneezy123]

I had a private harmony test at 10 weeks and it came back low risk, very relieved as I’m 41 (42 at birth). I was told to do combined screening anyway as they check for PAPP-A. Did this last week and it’s come back as high risk, 1:50 chance of DS. I’m trying to be rational but it’s put me straight back in the worry zone. Should I repeat the harmony? The NHS trust will do it for me. The screening midwife wasn’t very reassuring but did say that the NIPT supersedes the combined screening. We’ve decided not to do an amino given the MC risk. The NT measurement was only 1.5 so it must have been the bloods that made my risk high but I don’t understand the numbers!

Do you have your numbers? They're generally expressed as multiple of Median so the further away they are from 1 the more unusual they are. But there are other reasons for the bloods to be out of kilter. I think if you'd got the results the other way round you'd have felt more reassured. I had high risk for Edwards and Patau on the combined test but Harmony was low risk and all turned out fine.

Free beta HCG was 1.9172 MoM
PAPP-A was 0.4963 MoM adjusted by factor 1.10000

You’re right if it had been the other was round it would feel much better. I wish I’d never had the combined screening the midwife asked why I was doing it and I just thought best to have all the info.

Your CFTS would be expected to return higher risk anyway given your age.

The NIPT is the one to reassure yourself with.

Remember though that both are screening tests and neither are diagnostic. A really high risk doesn't mean your baby DOES have a condition, just as a very low risk result doesn't exclude the possibility your baby has a disorder either.

Thanks @DropYourSword I’ll try to be reassured by the NIPT. I know rationally I should be. I can deal with it being a level of risk rather than a diagnostic. I just want to know that the risk is low as otherwise I would want to prepare myself for having a baby with additional needs. Which obviously could happen anyway with many other conditions. We’ve tried for so long for a second that I was just so happy to be pregnant and I’d let myself forget how relentlessly worrying pregnancy is!

Not a HCP but I did a lot of reading about this when pregnant and I think that's slightly high bHCG and slightly low PAPPa. I would think you've got an excellent chance of all being well.

Is your NHS result similar to the NIPT probability given prior to the bloods? You should have two columns. And if the second one is 1 in 10000, that’s your adjusted figure.

As I understand it, the combined screening is a bit of a blunt instrument. It's the NIPT that's much more sensitive and is likely to give you a more accurate indication. I had high risk for Down Syndrome at my combined screening, so followed up with NIPT, which came back very low risk.

The combined test picks up 9/10 cases of DS, so is 90%. The NIPT picks up 99%, much more accurate. Trust the Harmony test above the combined.

Thank you everyone I’m taking deep breaths and trying to be reassured. It’s particularly useful to think of the Harmony as my adjusted risk. I’m going to keep repeating that to myself!

@UnaOfStormhold sorry to jump on this thread... do you know what the normal ranges are? Mine are all pretty close to 1 other than my NT which was 2.8mm, but still within normal range? I'm guessing being over 35 is also a factor... any thoughts? X

Age: 35
Weight: 75kg
HCG: 32.65 ng/mL : 0.97 MoM
PAPP-A: 1359.47 mU/L : 0.70 MoM
NT: 2.80mm 1.91 MoM

My combined score is 1:79

@Sarahlou2022 First a disclaimer - I'm not a health professional, just reasonably scientifically literate and spent quite a lot of time reading about this when I was pregnant.

The MoM stands for multiple of median so the ideal MoM scores are all 1. Based on that your bHCG looks very close to ideal, your Papp-a a little lower than average but not by much (mine was .16 if I remember correctly!), the nuchal transparency is higher than median but I think that varies more anyway. The target range for nuchal transparency varies by stage in gestation and is tough to measure accurately (we're talking about differences of tenths of a millimetre!). I suspect that the higher risk scores are a combination of your age and a higher than normal NT. I found it helps to flip the percentages - a 1 in 75 chance of problems is the same as 98.7% chance of no problems at all.

Hope you get some answers soon.

@Sneezy123 i could have written your original post myself- I did the same… nipt first, then combined screening. NIpT low risk and combined high risk 1 in 135. They said nothing else to do bc I had the NIPT, but my mind is going crazy. Can you please share how this turned out for you? I hope all is well. Thank you

@mommytobe2020 sorry I've just seen this. All was well. Healthy baby who is now two and sat watching Duggee while I eat breakfast.

Best of luck for you. Please try to be reassured by the Harmony!

@Sneezy123 that’s wonderful! Thank you so much for the update. This does help calm me down. Thank you