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

@Paranoidkaty I'm so sorry you're here again feeling so very anxious. I'd recommend ringing ARC if you haven't already. When I had a blip (incidently after seeing the consultant at 23 weeks too) I reached out to them for advice and support. They were very reassuring. I had to keep telling myself that I was more anxious than normal because of the high risk screen and that nothing was actually found to be wrong. I over analyse everything including these forums. If they were concerned about your scan they would have told you I'm very, very sure. The fact that nothing was mentioned is most probably because they aren't concerned. I've had a couple of growth scans now and while the overall length remains on 10th centile the individual measurements have altered slightly but they are only mm. The sonographer explained to me that it can look like a massive difference on the scan but in reality the difference is actually very small. Are you considering a late amnio? I have thought about it but the lady at ARC said they would be very reluctant to do it following a low risk NIPT and no concerns at scans.

@Liveforholidays I am considering it; I feel it will make my birthing process so much more stress free and relaxing and enjoyable even .. whereas at the moment I am solely thinking “I want think pregnancy to be over” and when I’m in labour I’ll just be thinking “what will the baby be like” etc ..
but it’s possibly completely unnecessary and putting the baby at risk of pre term labour.
Not long now until you meet your little one!
Do keep us updated! X

@paranoidkaty I was thinking about you today and wondering how you were getting on. Have you spoken to anyone about your concerns? I'm doing OK, 36 weeks now, heavy and tired. I'm trying my very best to think rationally about everything and keeping my fingers crossed that all will be fine. I can't do anything else now so trying to put my worries aside. He's kicking away well which is really helping to bond which I think is important. If course I'll keep these feeds updated. I think we all like to hear about how things end up when we've been following them for so long!

@Milcd good luck with your amnio tomorrow and please let us know the results.
I am in such a similar situation to you: 1:47 risk due to high hcg, normal scans, low risk

@Paranoidkaty thanks, hopefully I will have the results early next week but don't know if the bank holiday will delay them. Sorry to hear you are having anxiety, I completely understand what it is like, the uncertainty is horrible. Have you been able to speak to your midwife about it and how you are feeling? When you have seen the doctors have they given you any ideas of what could cause the high HCG? I will ask the consultant about it tomorrow and let you know what they say. I'm sure that if there was anything to be concerned about on either your 20 week scan and 23 week scan they would have mentioned it.

@BabbleBee, thanks for your update. It's great to hear that everything turned out well for you all those years ago!

Just a little update, I had my amnio results back this morning and everything is normal! It was a tough decision to make to have the amnio or not but in the end I decided that I needed to know one way or the other as I couldn't get the 1 in 10 chance of T21 out of my head.

@Milcd that's great news. X

Hi everyone. Mumsnet has been my lifeline over the last few months so wanted to give an update to my story. In November I received the news that I had a 1 in 13 chance of having a baby born with Downs syndrome. Like a lot of people this news completely floored me. I opted to have NIPT done as I was told the accuracy was high. At times I regretted this decision as it isn't 100% diagnostic and I always had the 'what ifs' in my mind. My son was born yesterday at a very healthy weight of 7lbs 8oz. The NIPT result was indeed correct. He is absolutely gorgeous. Just sad I spent so long worrying about my combined screening result, when I should have believed NIPT.

Congratulations @Liveforholidays I am so pleased for you. I hope you are resting up and enjoying every second with your newborn. Thank you so much for the update, i am really going to try and trust the NIPT result and enjoy the last 6 weeks of my pregnancy. Xx

@Missdrifter It's hard but please try and do that. They wouldn't recommend NIPT as a second screener if they didn't think it was a very, very good one. Also believe your scans (I didn't!!). I'm looking forward to hearing news of all your beautiful babies coming into the world xx

@Liveforholidays Congratulations on the birth of your son and thanks for the update! It's great to hear that the NIPT was correct and that he is healthy, and such a good size. If I was pregnant again I wouldn't have the combined screening, just NIPT, then that seed of doubt wouldn't be there. I've now reached 20 weeks and 2 days, the anomaly scan went and he is very active.

So pleased @Liveforholidays and I will continue to update too.
I had a growth scan at 31w (privately at the fetal medicine centre) and everything was now normal (humerus femurs head abdomen all around 55th percentile!) so no more little legs etc.. everything looked fine and the doctor reviewed everything from 12w, combined bloods, harmony etc and 20w scan and said I really really am low low risk and look like I have a totally normal baby - she sees high hcg “all the time” (I guess because specialist place they see more abnormal cases than normal).
I was considering late amnio but after that I am not anymore.
She also did A brief 4d scan so I got to see his little face!! Amazing!
I’ll keep you posted but heres to the final 9(+) weeks being more relaxed xx

@Paranoidkaty that's is amazing news, so glad you have everything reviewed and all is good. You can really enjoy the rest of your pregnancy, not long to go!

@Paranoidkaty I'm so pleased the scan went well, not long to go now!

Just thought I’d update:
I had high risk 1:47 screen NT 2.1mm, hcg 5mom pappa 0.6 age 33.
I had low risk harmony

That is great news that the initial PCR came back as normal. At least you can be more relaxed now for the last weeks and go into labour with a positive mind rather than worrying about the outcome. As your midwife said, it was the right thing for you to do.

Hello everyone. This forum has given me so much peace of mind and made me very hopeful, that I want to write my experience here as it can help others that are in the same situation.
I am 35 years old. Had the blood analysis come back with 3.16 beta hcg, 0.32 PAPP-A, NT 1mm. My chance of trisomy was therefore very high, at 1:42, I was in shock. Took the NIPT test (or harmony as you call it) and I waited for more than 2 weeks, I was living as a zombie during that time. A few days ago my OBGYN called me in the evening (they vere on holidays!!!) to tell me the test came back negative, no trisomies, yuhuuu!! I was so happy and joyful! So ladies, if you have wonky bloods don't panic, it could just be your blood, trust more in the ultrasound, if that was good that is already a good sign and go from there! Stay positive, I read so many stories of ladies in the same situation, with very high Hcg levels and low PAPPA that finally had a good outcome, negative NIPT.
xx

Hi everyone- I don’t know if any of you are still about or if there is any one else out there with a similar experience but I’m going through this right now. I’ve been given a 1:18 chance of downs. My nt was only 1.7 but my bloods were high for hgc and low for Papp a. I’m 39. I got blood took on Monday For NIPT but I won’t know the results till Tuesday next week. Today is Thursday so I still have all today then 3 more full days to do after. I feel constantly sick. I’m not sleeping. I can’t keep food down. I think of nothing else and am googling like a woman possessed. Can anyone calm me down or anything? Distract me? I have no idea what I would do with a positive result.

@Paperyfish so sorry to hear you are going through this. It’s a absolutely awful and I remember feeling exactly how you’ve described. Try and remember that the initial blood tests are used as part of a screening tool, they are not 100% accurate. The numbers are so variable, I have high HCG and low pappa A, the initial combined test gave me a result of 1 in 63. The NIPT came back as low risk which is 99% accurate. So many of us have gone through this awful experience. Hang in there, stay positive. Where in the UK are you? Did you have NIPT through the nhs? Xx

I’m in Surrey. I got the NIPT through nhs. Why then bothered with the combined in the first place I really don’t know as at 39 my results were unlikely to be good. I am beginning to wish I’d just done the Amnio now. I might now by now then instead of being in this torturous limbo.

@Paperyfish my screening midwife told me that here in Wales they’re trying to get rid of the initial combined test because it is so variable however the NIPT test is much more expensive so the health board won’t agree to offer that first. Do you have good support at home? I know it seems impossible but try your best to keep busy and occupy your mind.

Thanks @sunflower1492 am at work so busy- but probably not giving it my best tbh. My husband is at home but doesn’t want to discuss what we’d do with a positive diagnosis unless we get a positive diagnosis. He’d rather just hope for a good outcome. I can think of nothing else. I want to talk to people about it so badly- hence the posts.

@Paperyfish we decided to keep it to ourselves initially but it got to me so much I ended up confiding in my sister and my Nan. That was honestly the best thing I did, while my partner is a good source of support having someone else to talk to really helped. Thinking of you!!

@Paperyfish we were in a very similar position just before Christmas. I had a 1 in 13 chance of having a child with DS. It came as a huge shock, not sure why, but probably because it wasn't the path I thought I'd be taking. A friend of mine had very recently given birth to a son with DS (not diagnosed until birth) so I talked to her about it which really helped. I knew that whatever happened we would be OK.
We opted to have NIPT, largely because, like you, the nuchal fold measurement was well within normal range and there were no abnormalities noted on the scan. The sonographer reassured me that it is just an initial screening test and an opportunity, should we wish, to do further testing. The NIPT came back negative and I gave birth to a healthy son in June. I won't pretend that the pregnancy wasn't stressful. Due to having low papp a I had to have additional growth scans. I also worried that the NIPT result was a false negative, so with hindsight I did wish that I'd gone for an amnio at 16 weeks. I couldnt get the 1 in 13 number out of my head!

Like the previous poster has already said, talking to other people does help. I had a 2 week wait for the results which was torture and my work suffered during that time but there is hope, and you will get through it. Distraction was my way of coping, my house had never been so clean!

Hopefully reading these posts will help to reassure you. If you need to speak to someone professional, get in touch with ARC. I really found this charity a huge help during this time and the ladies I spoke to were all really, really lovely and just listened while I cried down the phone to them.
Best of luck to you and do let us know how you get on, we've all been there so totally understand how you're feeling x