12 week screening results - would you go for Harmony? Panicking.

[mrs87]

Hi all

I'm 32 years old, 13 weeks today and have just had the letter today with the results of my 12 week screening tests (done at 12+3), and while it has been classed as low risk I am still very concerned about the results. They are as follows:

Nuchal measurement: 1.6mm (1.04 MoM)
FreeB-hCG level: 146.8ng/ml (4.75 MoM)
PAPP-A level: 2328 miu/ml (0.92 MoM)

Screening result: Screen negative
Risk of Downs: 1 in 410
Risk of trisomy 13 & 18: Less than 1 in 50,000

I'm really concerned that the hCG level is more than 4 times what it should be, which I imagine is what is giving me the higher end of low risk score of 1 in 410 for Downs (along with the slightly low PAPP-A).

They have not advised further testing due to the overall result being low risk but I'm not happy that it is low enough and don't know if I should be worried. I will call and speak to the midwife Monday morning but I can't sleep for worrying now! The hCG does seem very very high and I'm not sure what else this could indicate.

Have read good things about the Harmony test but trying to tighten the purse strings before baby comes as it is, just don't know if I'm overreacting!

Any advice gratefully received from anyone that has been in a similar situation.

Thank you x

So there's a 0.2% chance of the baby having Downs Syndrome? Fairly unlikely. The NIPT won't give you a definitive answer either, from what I understand. What would you do if it suggested Downs? Or, if it came back with a similar result?

0.2% does make it sound less terrifying when you put it like that. Been asking myself the same questions for the last few hours, what would I do if further testing suggested Downs.

I think it's equally in my mind that what else could such a high hCG indicate other than Downs Syndrome? I'm naturally a worrier which really doesn't help.

From what I've read on a cursory Google, high HCG doesn't indicate much really. Potentially a molar pregnancy, but you've had your scan so it's not that. There's a massive variation in HCG levels from woman to woman anyway. If you're a worrier, generally, in pregnancy, Google is not your friend. I'd advise you to stay off it as much as possible and not go looking for trouble!

@mrs87 I completely agree with @BecauseReasons. Those sound like very reassuring risk assessments to me and I would query the merits of taking more tests - that could have the potential to elevate your anxiety further.

I’ve sadly seen many people choose to take more tests when they’ve felt anxious in similar situations to yours - then ended up floored with either “high risk” assessments, or even become more anxious overanalysing “low risk” assessments.

NIPT can be a useful tool, especially within the context of high risks already having been identified - but this is not your situation. A low risk result is robust, but sadly their high risk assessments are not. Hence it would be questionable what you would gain from these further tests when you are already classed as incredibly low risk to begin with.

Given NIPT does still have a number of false positive/high risk assessments, and this process is both costly and not always adequately supported, I would worry that it might not be the most beneficial process for you given your personal circumstances.

In your shoes I would probably ask myself what I could possibly gain that would provide peace of mind I suppose? It is ultimately your choice and I don’t want to seem like I am just forcing a view on you.

I really wish you the best and hope you have a happy healthy pregnancy xx

I had high bHCG in my recent pregnancy, 4.1 MoM if I remember correctly. We were the same age, but my PAPP-A was a bit lower than yours, and the NT was a little higher so my result did come out as high risk (1:72).

In my circumstances I decided to go with the NIPT, which came back clear, and baby is now here and unaffected. So, in my pregnancy, high bHCG didn’t mean anything, was just my normal for that pregnancy.

Only you can decide what to do with regards to further testing, but please be reassured by the 0.2% figure and the fact that, as far as the NHS are concerned, you’re low risk and that’s the end of that.

Hi OP.
My hcg was 4.6MoM, Pappa 0.6MoM and the NT 2mm at 12+6.
I am 33 and 34 at EDD.
This put me at 1:47 of Down’s syndrome.

The nhs experience was horrible and so we were able to afford to visit the fetal medicine centre in London for repeat scan and the NIPT harmony test.
The harmony came back

I had a much worse result than yours and was offered an amnio. I went for the private harmony test and came back low risk (thank goodness). It was a very stressful time.

In your shoes I would ask myself if I would go for the amnio. If you don't think the risk is high enough for that then you probably don't need the harmony. I understand that the harmony will be provided on the nhs in due course. I do think it is very expensive but it did of course give me the peace of mind I craved. Only you know the answer to the cost v reassurance as it is very personal and dependent on circumstances. I didn't have the harmony until 17 weeks. Good luck.

If high HCG always means DS, you wouldn’t be given a risk of 0.2%, you’d be given a risk of 100%. HCG alone isn’t a reliable indicator or they wouldn’t combine the results with other things to assess risk.

I think PPs make good points.

Hi
When pregnant my hcg was much higher and my pappa was less than a third of yours. Consequently those gave me a significantly higher risk of trisomy.

I opted to have the harmony and cannot recommend it enough.

My motivation was that it wouldn't change the outcome of what I would do with the pregnancy, but would allow me to be fully informed of potential needs, and and for further tests etc to be planned for.

I think that you need to think about what you'd do if the result was a trisomy first....

Fwiw the NHS test has around 75% of results that come back as higher risk that are not actually DS. And I know more women who were deemed low risk who have a child with DS....

What is the Harmony test?
Is it the same as the NIPT test.

I had my baby in Australia and everyone has the NIPT test there, is that not the case here?

@SoloMummy I am mindful that yourself and others are discussing NIPT in terms of what is a very much Downs Syndrome focussed lens. In the context of a high risk NHS screening, NIPT is indeed indicated to be helpful in the event of a “low risk” screening, and is more accurate at detection of Downs Syndrome within this context that NHS screening alone.

However, I am also very conscious that we do not lose sight that OP has no high risk factors identified at all. She is anxious and talking about taking NIPT solely for reassurance purposes. NIPT has limited efficacy as anything other than a Downs screening assessment.

Whilst NIPT may be helpful within the context you describe, to suggest the test as a generalised source of reassurance is incredibly risky. NIPT has an exceptionally high false positive rate for pretty much every trisomy except for Downs (although even the false positives for Downs can still be 20-50%).

Additionally I would caution around the generalised assumption that prenatal tests would not change outlook in respect to pregnancy. Given NIPT tests for conditions “incompatible with life”, it is entirely feasible that in seeking “reassurance”, OP could receive a high risk screening that would give her baby a fatal prognosis - with minimal accuracy and predictive value. You may think I am being negative, but I have known far too many people face this. And the reality is if you were told your baby was likely suffering tremendously in utero and faced almost certain, painful death, it is naive to think this would have no bearing on how a person might view that pregnancy...

Additionally as so many professionals do not understand or explain the limitations of NIPT, and like yourself (and others on here) see it as holding more accuracy than NHS screening, some even viewing it as diagnostic, this causes tremendous amounts of trauma.

As I said in my previous post, I would personally worry that OP would need to consider the source of her anxiety and balance the risks of going from a position of extremely “low risk” on all counts to facing the possibility of all these other stressful possibilities...

I totally agree with @SarahD19 OP. Be very, very careful before going down a route that you don’t absolutely need. I was given a 1 in 10,000 chance for downs and a 1 in 100,000 chance for Edwards/Patau’s, but because I was under the impression Harmony was the most accurate you could get (and I’m highly neurotic!) I went and had the test done just for double “reassurance” and it came back high probability for Patau’s - and what’s more, no one actually explained what that meant or why the test had come back like that. My partner and I have since gone through so much trauma with this result - including a high risk amniocentesis- before being told last night by a consultant that our baby is growing well on the scan and there are no abnormalities to see. We’re still waiting for the amnio results, but have been told to be “very optimistic”. Having that test has caused me so much trauma and stress - and I had no reason to. The NIPT test is a useful secondary screening for downs IF you already have a high risk result and want to avoid invasive testing, but think very carefully about the fact the test also produces false positives and how you’d feel if the test came back with results that are not reassuring at all!

@help2019 sorry to hear you have been going through this but glad it is looking more positive for you now. I’ve been thinking of you xx