High risk screening - Normal NT but high hCG, Low PAPP-A

[SoozyWoozy]

Hello everyone,
I'm new to this board, so apologies if I'm posting in the wrong place!

I'm 13w pregnant with my 4th baby (6th pregnancy, first two were ectopic & mc). My other pregnancies went without a hitch, other than the dreaded SPD.

With the other 3 I just had a Nuchal as screening, and all were very low risk. My hospital now does combined screening so this time I had bloods done as well. My scan was apparently OK and the Nuchal measurement was within normal range but my bloods made me high risk with a 1:78 chance of a baby with Downs / other Trisomies. My BhCG was double what it should be and my PAPP-A was half, apparently can be an indication of trisomies, but even with no chromosome problems this can lead to other problems in pregnancy such as IUGR, preeclampsia to mention just a couple!

I guess what I would like to know is this - has anyone been in a similar situation and come out the other side?! I have an amnio booked for 16w, but the waiting is driving me crazy and giving me too much time to think about the what ifs and if I am doing the right thing having the amnio at all!

Any words of wisdom would be gratefully received.

Suzy

@nextweek congratulations, I am so happy for you. Enjoy the rest of your pregnancy and forget about this experience 😉xxx
When is your baby due?

@Neuronurse27 I told you not to worry 😉 congratulations to you I'm really happy for you. Enjoy the rest of your pregnancy xx.

Hello everyone. I read every single post in this thread and it brought me much needed hope. I had a phone call yesterday that we’re high risk for DS. The other two trisomies are very low risk. I had my scan and bloods taken at 12+2, the results were:
Age: 31 at full term
CRL: 58.6mm
NT: 1.5mm
PAPP-A: 0.41 Mom
BHCg: 3.34

Midwife said it’s mostly the hcg that’s giving me the high risk, she said that my PAPP-A is borderline on low because they consider anything less than 0.41 as “low”. What I cannot find anywhere is what are the normal BHCg values for my gestation? Midwife said that it’s “slightly increased”. We had couple of previous losses and this is the first pregnancy that actually got that far, so understandably I’m in pieces.
I have decided to get NIPT done which is booked on Monday and is meant to take 5-6 working days for the results to come back.

Hey hun, I honestly wouldn't read to much into that. My Hcg levels where 4 Mom so 3 times higher that the norm! My papa-a was normal at 1.67 Mom and Nuchal translucency was normal 2.2 at 13 weeks gestation. My age is 33yr in my two previous pregnancy's my hcg was increased and they were both born healthy babies. So just to be sure I got the harmony test done and everything come back low risk 1/10,000 and scans have been perfect, she's actually measuring on the bigger size. What we have got to realise as mummy's all our results will be different some normal levels of hcg, some low levels, some high levels. Our bodies work differently. The only thing I will say if u are a worrier like I was at first, get the harmony test it is so reassuring! Normally with a trisomy u have low levels of pappa-a and very high hcg and high Nuchal fold. Xx

@Katie1109 The levels they give you are mean adjusted, so the "normal" would be 1. Having gone through all the stress and worry from the combined screening I completely understand how upsetting it is to receive the high risk result (1 in 10 for T21) especially following a loss. I had mine after a low risk result from NIPT and wish I had never had the combined screening as it left me doubting the NIPT result. As hols86 said, we are all different, and have varying levels of HCG. This test just doesn't seem to accurate enough and causes unnecessary worry.
My son will be 23 weeks tomorrow and he is a very healthy, happy baby with absolutely no issues.
I hope your NIPT results will give you reassurance.

@Katie1109
Looking at you blood results they don't seem that bad to me, your Hcg is a bit high but trust me it can be very normal for you, so please stop worrying and do your NIPT, I can assure you you will get good results xx
Good luck

Thank you so much everyone, it means a lot to have some support x @Mummy825 thank you, I didn’t think mine were terrible, but it’s just the fact that I’m now in high risk and after couple of losses before it’s just not what I needed! @Milcd thank you for explaining the numbers x @hols86 I’m glad you had happy endings with your pregnancies x well done x NIPT booked for Monday morning, but doubt I’ll get results before Easter break x

@Katie1109 my results took 6 working days exactly and it was the longest wait of my life! This page brought me so much reassurance but I also joined a group on down syndrome as I wanted to be prepared for either outcome but honestly based on your normal NT I think everything will come back fine. I would never get the NHS screening again I think it puts so much unnecessary stress on women. Try and stay away from Google etc as much as you can I know it's easier said than done I definitely didn't follow this advice and I was out of my mind! Hope you don't have to wait too long for the results xxx

@Neuronurse27 thank you for your kind words x I had my blood drawn this morning, so the wait begins. I’ll have to wait until after Easter break for the results 😩

@Neuronurse27 I appreciate what you’re saying but having NHS Screening tool alongside NIPT literally doubles NIPT accuracy... it is personal preference and if you feel you wouldn’t want the test for yourself, I totally get that.

All these prenatal tests are flawed. I know people who’ve been sent to hell and back through NIPT screening and prenatal tests including CVS as well.

Personally I have very strong feelings about all tests being misrepresented. However the biggest concern within that at this current time is NIPT misuse and misinformation. It is a good tests but many seem blind to it’s limitations. Whilst a bit more accurate (also largely as it adds to the foundations provided by NHS Screening for example), it can cause a lot of alarm in exactly the same way NHS Screening can. However most people are aware the NHS Screening is limited. Many people put more clinical weight on NIPT and will see it as equivocal with invasive tests for reliability - which it most definitely is not.

@Katie1109 good luck with your test results. Will be thinking of you x

@SarahD19 how does having the combined screening as well as NIPT double the accuracy of NIPT?! They are both stand alone tests and there are multiple examples on this thread alone that prove that the odds given by the combined screening and those given by NIPT can be completely opposite ends of the spectrum. My odds were 1 in 10 for downs syndrome in the combined screening and 1 in 10,000 for NIPT.
I am in complete agreement with Neuronurse27 that it causes unnecessary stress, just like your constant slating of the NIPT. I understand that you want to make sure women are aware that it is not diagnostic, and this is explained prior to taking the test, but your comments made me doubt the accuracy of my NIPT when I was pregnant. I ended up having an amniocentesis due to anxiety caused by the two extremely different results when I should have just been able to trust the highly accurate NIPT result (the consultant was confident in the result).
Personally I think more people are blind to the limitations of the combined screening because it is used as the primary screening tool, so there are women that are given a low risk result and end up with the test being wrong.

@Milcd in high risk sub-groups, the NIPT is a lot more accurate. By broadening the test to the general population, in many instances it is far less accurate. Within a context like yours the NIPT can be a useful tool - but it is not one size fits all. When you suggest to someone to take the test to “relieve anxiety” or for a gender reveal for instance when there are no clinical risks, you are leaving people open to go through scares like you had with the NHS Screening unnecessarily.

My posts are not about being negative about NIPT but providing context. The fact you still do not appear to understand these concerns suggests they either haven’t been properly explained to you or you are biased in some respect.

Statistically speaking most people find both NHS Screening and NIPT helpful and reassuring. The NIPT has a slightly higher level of accuracy. But bottom line they are both screening tools and neither are perfect.

Neither of these tests can tell you that you’ll have a healthy pregnancy - in terms of risks the 20 week anomaly scan and/or invasive tests will always tell you more. Most issues are not evident until 20 weeks, even then things can go wrong with a pregnancy. There are so many conditions and clinical presentations we cannot understand that can impact a healthy pregnancy. All the NHS Screening and NIPT can do is indicate pregnancy may be higher or lower risk for 3 conditions.

No prenatal screening can provide absolute certainty or reassurance or be completely accurate. If the uncertainty of this is too unsettling, then the issue you have is with screenings in general tbh.

Also rather than try to take what I say personally, maybe take the time to appreciate that as a new test, many are less aware of NIPT limitations, unlike the NHS Combined (which everyone knows is flawed). Take the time to consider other people’s experiences www.mumsnet.com/Talk/antenatal_tests_choices/4008532-False-Negatives-NIPT

@Katie1109, we are in the same boat. Had my NIPT done today too. Had a cry on the midwife. Just got the agonising wait ahead of us now. I’ve been told I won’t hear until next Thursday. Just so long to wait!

@Milcd thank you for your reassuring message, I was hoping someone reply to sarahD19 post with more evidence, as her post really made me doubt my NIPT result.
@SarahD19 sorry to say that but your post made me feel the nightmare I was living when I first got my NHS screening test again, I don't think it's a good thing to make all the ladies on this thread who opted for NIPT because they couldn't take the risk of miscarriage of the Amnio doubt their NIPT results.

Hey ladies. My post isn’t about trying to cause any anxiety but about awareness. As I’ve said, NIPT is more accurate than NHS Combined Screening and statistically will be accurate and provide reassurance in most instances. However it is only a screening and nothing is 100%. Some of these companies profit by claiming to be bulletproof but they are not. This is the nature of pregnancy - there will always be risks, as difficult as that can be to accept.

One reason why I went off these forums for a while is because I was sick of being demonised for being honest. However I have been contacted by various people who have thanked me for my posts having been misled and due to feeling alienated by people adopting the attitude that being open about the limitations of screening is wrong.

Another gripe of mine is scaremongering about amniocentesis. The data cited to put people off amniocentesis is dated and largely refuted. obgyn.onlinelibrary.wiley.com/doi/10.1002/uog.2035

Wishing you all happy and healthy pregnancies.

Sorry this is the link about invasive testing and miscarriage risk obgyn.onlinelibrary.wiley.com/doi/10.1002/uog.20353

“^^The procedure‐related risks of miscarriage following amniocentesis and CVS are lower than currently quoted to women. The risk appears to be negligible when these interventions were compared to control groups of the same risk profile.”

@SarahD19 I do think that the majority of companies offering NIPT are responsible and are clear that it isn't diagnostic, plus lots of women go on to have their NIPT following a high risk result from the combined test carried out by the NHS so there is no charge or profit to be made. I am not biased towards the test, I am purely speaking from my experience and whilst I was going through the challenging time I made sure I read research to understand the limitations etc. Please just be mindful of how your posts may suggest that the NIPT result is not accurate (by this I mean that you are suggesting that the probability is not accurate);

"By broadening the test to the general population, in many instances it is far less accurate" less accurate than what?

I'm sure that everyone on this thread is well aware of other issues that could arise in a pregnancy, other than the trisomies looked at by both tests. Again what you have previously posted is less than helpful.

I do agree with you with regards to the risk quoted for amniocentesis, the data is very old and has not been updated with the use of better scanning equipment. Again, I did research on the matter when deciding if it was the right thing for me.

@Milcd I understand if people come to this thread wanting to be told their baby will be ok and a test will always be right in telling them what they want to hear, the temptation can be to go along with that... Whilst we can always try to reassure, not everyone is lucky. Many people are not - and to those people, your comments are “less than helpful”.

As for the fact NIPT tests are less accurate in the general population compared to high risk, this is standard information anyone having this test should know - and as someone who claims to be informed, your apparent lack of knowledge around this is telling. If you read the Nuffield Bioethics full report for instance, NIPT is 37% accurate in the general population for Trisomy 18 screening and just over 80% accurate if used in high risk groups - i. e. People who have been flagged as High Risk following NHS Screening. With Downs the NIPT can be as high as 90% accurate compared to 80% accurate if flagged as high risk. This is using Positive Predictive Value (PPV).

I am fully supportive of anyone making informed choices. Part of being informed is being open and honest about the above limitations. We help no one by glossing over these issues.

As I have stated, all tests are flawed. I’ve critiqued NHS Screening and CVS also. I’d say my comments on this thread are pretty balanced in this respect.

Also the reference to not having bloodworks on the NHS can leave people vulnerable to having undiagnosed hormonal or placental issues associated with poorer pregnancy outcomes. The NHS Combined test considers these as statistically speaking, putting trisomy risks aside these actually can provide information that practitioners can support women with to ensure better pregnancy outcomes.

People advocating to bypass NHS tests don’t seem to appreciate this - so actually not having open dialogue can leave more people vulnerable. This is as well as greatly reducing the efficacy of NIPT in terms of assessing risk.

www.ncbi.nlm.nih.gov/pmc/articles/PMC4771848/

@SarahD19 Your posts clearly aren't helping and making lots of ladies feel anxious! I'm sure they did there own research on the Nipt! As did I, so your need to jump on every thread with your information isn't helping anyone. I don't see what your intentions are? Let the ladies do there own research and judge for them selves! The same way I did when I payed for a Nipt. Your posts aren't helpful and you clearly have to much time on your hands.

Also just want to clarify, the majority of people I know have paid privately for NIPT. The NHS is now embedding NIPT as an option where high risk is identified. This is something which I am supportive of and hope will result in more seamless practice (also rooted in evidence). Hopefully the start of more accountability and better understanding across practitioners 🤞

Hence I am unsure how you would reach the conclusion that there is no money to be made by NIPT... that isn’t a criticism, but I would like to understand. It is a multi-billion dollar industry, that even in the UK has been predominantly run through private providers 🤷‍♀️

@SarahD19
Can you please stop this, because you are really making me very anxious 😟. I started googling like a crazy, I literally spent most of my time today looking for more reassurance online and I don't think I will have a peaceful night either. I had my NIPT for free as the NHS offered it to me because of my high risk results. The NIPT came back low risk, I've asked several Midwifes to do Amnio to make sure and I am ready to pay the hospital for it, but they all said to me that there is no need to take that risk. NIPT is more accurate than the NHS screening, and I know that if I had a low risk results from the NHS screening I wouldn't even think about NIPT.
But now after reading your posts, you made me doubt aaaaaall this and start thinking about Amnio, I just don't want to take the wrong decision.

I wish I didn't read your posts.

@Mummy825 I’m sorry you are going through a tough time. As I have repeatedly stated the NIPT is a very sensitive screening tests.

I do not know your full circumstances so cannot comment. However if you had the test free on the NHS within the context of risk management, if anything my posts should support your confidence in this - as this is an appropriate and generally effective context for the screening.

I understand people can feel anxious - and we have no certainties with ANY pregnancy. However I think we have to distinguish between being factual and providing an echo chamber on these threads....