High risk

[JulieC1981]

I have been told I'm in a high risk for down syndrome.

I have to go back on Thursday for the next blood test.

I'm 38 years old and nearly 18 weeks. So nervous and scared about the results and next steps!

@S1986york I was in your shoes a few weeks back. I got a call to say my combined screening has come back high risk for T21 (1:110). Like you, my NT was in the normal range but my BHcg was double what it should be. That, combined with my age (38) gave me a high risk result. I had the harmony test and everything came back low risk. It was a hideous time waiting though. In the wait though I did read loads, some of which may make you feel a bit better. Firstly, there are quite a lot of false positives with the combined test. They spread the net pretty wide to catch the actual cases. The other thing I read was that 70% of babies with 1 of the 3 main trisomies have an elevated NT of more than 3.5mm so the fact that your NT measurement was 'normal' is a great sign too.

The other good thing is that the harmony test is incredibly accurate for T21 and detects more than 99% of cases. So if you get a low risk result, you can feel pretty confident your baby does not have T21.

I'm afraid I have no advice on how to manage the anxiety between now and you getting your results. I'm afraid I just cried my way through the wait! Do remember though that 1:79 still means that there is over a 98% chance that your baby does not have T21 so you have reason to be hopeful. Take care and I hope your results come back low risk.

@Aria2015 thanks for your reassuring words I really appreciate you sharing your experience with me. I will just have to hold tight til next Friday for the results. I really do hope this worrying is unnecessary but it’s hard not to, I’ll take one day at a time and get my 2 dogs to distract me in the mean time. Thanks again 🤞🙏

@Aria2015 I've been there too. The initial shock is just horrendous. I'm glad you've got a plan in place, you're back in control of the situation now. I too opted for NIPT and also had an amnio back. In the end the nipt came back low risk and we decided then to cancel amnio so never went through with it. I'd done a lot of reading in the 2 week wait and agree with all that the previous poster has said. Good luck with the waiting, you just take every day as it comes and get through it. Let us know how you get on. X

Has the OP or any other posters had their babies yet?
And is all ok? We are all so worried hoping to hear of women in similar situations with good outcomes! Xx

I had my harmony test yesterday, I’m just very anxious now. Trying to be positive but that little area of doubt and it coming back as high risk just takes control of my thoughts, I feel ill I’m so scared. And seeing the little one jumping around, it’s heart beating away and the Sonographer took all the measurements saying that they were all fine, it’s just heart breaking to think this pregnancy might have to come to an end.

I had a 1:30 risk of downs and NT of 3.8mm. Nipt was low risk but I couldn’t shake the fact there was a problem. I also had severe polyhydramnios which can indicate genetic conditions.

My twins are now 16 days old and both perfectly healthy. We had two neonatal teams at delivery and my delivery date was moved 3 teams in line with nicu cot availability....so I think the drs were expecting the worst too.

Hopefully this brings some hope to those still waiting for results, I know it is a very difficult time.

@Robs20 thanks for sharing, I’m so happy for you that your twins are just fine! I’m a twin myself and I can tel you from my mothers experience that we were a shear delight to her and my dad, I was born with my best friend. 😊

That's wonderful news, congratulations. X

@S1986york my situation is very similar to yours.

I had my 12 week scan on Monday, NT measurement was in the normal range. I had a call Wednesday to say that the combined test has come back with a 1 in 60 chance of having a baby with Down’s Syndrome. I had the NIPT test at the hospital on Thursday so currently anxiously waiting for the results like you.

@Bigkingdom I hope it comes back low risk for you. I feel that the NHS just give you this news so flippantly without the support for mums who receive it in such a devastating way. I feel abandoned and totally lost at the minute. Thank goodness for MN. I will have everything crossed for you. X

@S1986york I posted back on here in January when I received my high risk results so I know exactly how you feel. I think I was 1 in 45, Its beyond awful and I just went in to completely meltdown during the wait. I am also your age and the screening midwife said that my age would have contributed to my high risk along with my low pappa. I spent the week waiting reading through every forum and just trying to get some comfort. I would say that from what I read most people came back with a low risk from the harmony test especially if the NT was within normal range (which yours is) I have since had my 20 week scan which was fine and more recently I had my 28 growth scan (due to low Papp-a) and again the consultant is happy with how the baby is growing. I am sure you will get the result you want and hopefully the wait won’t be too long.

@Robs20 I am so pleased everything has turned out well for you and huge congratulations on the arrival of your twins. I am so pleased you updated us on here as I am someone who suffers from anxiety and although everything according to midwife and consultant since has been fine, like you I haven’t been able to shake the feeling that something is wrong and have recently become obsessive again over my last scan because my babies legs are measuring at the bottom of the curve on the bottom line. It’s nice to know I am not alone in thinking this way and that it all worked out for you.

Xx

@missdrifter i am so happy that your scans have been good. I too suffer from extreme anxiety and have recently come off antidepressants following the knowledge of my pregnancy. This news is so terrifying and I am trying to put things into perspective and hold on to the positive stories I have read on here. The only thing I can do now is wait and see.

@S1986york it’s really horrible and i struggled to thinking rationally (I still do) I also found that I didn’t get much support during that time from my midwife or hospital and found my best reassurance came from on here. Although since then my midwife has referred me to get some additional support for my anxiety, maybe you could ask about that?
Good luck and please keep us posted. Xx

@missdrifter I will ask about further support definitely. I think with the Coronavirus every other heath problem has been forgotten about in particular mental health, especially with such bad results from the combined screening tests, with which for a lot of women is a real struggle to cope with.

@S1986york and @missdrifter
I too have terrible anxiety - the first trimester of my pregnancy was spent worrying about another miscarriage then came the screening bloods just I started to feel better.
Mine was 1:47 due to hcg of 5 and NT 2mm (also 34 years old).
I had low risk harmony test but still can’t shake the anxiety (now 25w) and am (irrationally Considering the low risk NIPT) considering late amnio.
I too felt I really had no good midwife support - the screening midwife was actually really impersonal and then due to my area I kept seeing different midwives for 12 and 16 week checks.
Someone through another thread on here recommended I ask to be put in contact with a perinatal mental health midwife (every nhs trust has them) and she has been great. I’ve now been put under the Care or a “continuity midwife team” which is just 2 midwives so you see them only, they both know everything about your pregnancy your anxieties any other issues and.. when the time comes they are on call and will come to the hospital whenever you go into labour to spend the whole labour personally with you. So, I now feel really happy about that side of things.. if you guys are anxious it’s definitely worth going down this route.. (they are also supportive of a late amnio if my anxiety continues to plague me and I can’t fight off the unease) as reducing stress will help my birth etc xx

@paranoidkaty thanks for letting us know about the perinatal mental health midwife. I had no idea about this service and will be sure to get in touch, as like you I feel it will help be considerably with my anxiety. Xx

Thanks for that @Paranoidkaty I am going to ask my midwife about that at my next appointment. What does your midwife say when you suggest the amino after a highly unlikely NIPT? I know exactly how you feel because I am the same, my anxiety has never been as bad as it has throughout this pregnancy. X

@missdrifter; that if I can’t stop it constantly going through my head, I’m waking up thinking of it, it’s affecting my personality then for the sake of my mental health for rest of pregnancy (and after because all this stress then suddenly a baby will make anxious pregnant people v likely to have post natal depression) and my relationship and my baby’s health then I can have it done ..
I’m still debating.

@paranoidkaty you have described me, I am constantly obsessing and I can’t shake the feeling that something is wrong. Did it take long to get under the care of these mental health midwifes?
I think I have read every forum and study about short femurs (which is my latest and most consuming obsessions) and I know that by doing that it just feeds my anxiety. Do you have any more scans? I have one in a couple of weeks and I am just praying I have some reassuring news otherwise I don’t know how I am going to be. X

Yep I’m the same.
One day I’m all “NIPT was

I hate these initial screening tests with a passion, this is what it does to people. I wish I'd never had it done and just had NIPT then I'd have never known I was very high risk. It sounds very much to me that you are under good care with the perinatal midwives, I've never heard of such a service before. I've seen a different midwife at each appointment (probably because of covid 19) and at each appointment they look back through my notes and comment on the 1 in 13 chance. To which I have to explain that nipt was low risk and all scans have been fine but it just fuels the anxiety. I considered a late amnio too but I'm now 37 weeks and I think this is the easiest stage, I've gone past the 'what ifs' and just want the baby here now. I've decided that I'm fed up of being worried and want the not knowing over and done with. I do have serious concerns about the whole screening process and given my time again (this is my second and final baby so don't have to go through this ever again!) I would just have NIPT and not bother with combined or have combined and then have amnio if that came back high risk. It would have been helpful for someone to explain to me at the time that NIPT was a good option, but often people with high combined screenings still focus on that 1 in..number which can cause great anxiety, even after NIPT. That said every midwife I have talked to have been very positive about NIPT so that's a good sign, I'm not under any other care just in case the result is a false negative. I have to hold onto the fact that it's very, very accurate and believe in the test. I wish you all well and I'll continue to keep updating.

@Liveforholidays you hit the nail on the head when you said that people focus on that 1 in xx. Thats me. Everyone keeps telling me i have 59:1 chance baby is ok BUT someone has to be that one! I don’t think it helps that i’ve had a child die from something so rare it has hardly been seen in the World. I was that one. Therefore in my eyes i have a high chance of being that 1 in 60.

@Paranoidkaty I've been reading your posts and you remind me a lot of myself in my pregnancy with my little boy. I'd had two miscarriages before him and was plagued by anxiety during my pregnancy. My combined screening wasn't high risk, it was 1:1300 but that seemed high compared to my friends who had all got 1:10,000 etc... I did loads of reading and knew that the combined test didn't detect all cases of T21 and became convinced that I was in that group. Also his NT was 2.7mm which I convinced myself was high. At my 2 weeks scan the femur bone was in the 30% percentile which I took as another 'sign'.

I had private scans at 28 weeks and 36 weeks and despite them showing the femur length to now be in the 70th percentile I still worried right up until I had my little boy. I was really convinced I was going to be in that missed percentage. I wasn't, my little boy doesn't have T21 and I feel so sad that I spoilt so much of my pregnancy worrying.

For me, I think my miscarriages had left me believing that something always had to go wrong for me. I didn't get any help for my anxiety when I was pregnant, but I got counselling before this pregnancy (after I'd had another miscarriage) and it's helped hugely. Techniques like mindfulness have helped me better control intrusive and obsessive thoughts.

This time I did actually get a high risk result on my combined screening but had a low risk NIPT test. Of course it's entered my head that it could be a false negative but I'm determined this time not to let those thoughts take over my pregnancy. Every time the thought of 'what if it's wrong?' Pops in my head - I tell myself if I should happen to be in that really minute (tiny, tiny) group who had a false negative NIPT test, then I will just have to deal with it, simple as that.

I really hope that you manage to enjoy your pregnancy and put some of the worrying to one side. I know it's so, so hard. I definitely recommend taking any help you're offered and also trying things like CBT and mindfulness too.

@Aria2015 Thank you so, so much for your response. That's exactly what I (and probably others) needed. You talk complete sense. Xx

My anxiety is through the roof waiting for the NIPT test results! I can’t stop crying and feel totally out of control. What’s making things worse is my friend keeps messaging me about the pregnancy and also sending me pictures of her new born, I feel awful as I can’t face it all. I’m hoping for the results to be back on Friday and keep praying that all is ok but can’t stop thinking that it’s going to come back high risk! Also I have told my whole family that I am pregnant which is devastating as I may have to contemplate ending the pregnancy if it’s bad news. Sorry but I really needed to vent x