1:137 increased chance trisomy 18 & 13

[mummabearno5]

hi all i’m new to mumsnet,

i wanted to put a post up and reach out to other mums who are maybe in the same boat as me or have been. i recently had my first ultrasound screening all measuremets were perfect within range 50.8 CRL 1.5mm NT no abnormalities seen brain was fine ect, i then had my bloods taken and received a call this week ( was about 2weeks ago i had the screening 11wks 4days) to say my age risk was 1:850 and DS was 1:1000 T18 & T13 1:137
BCHG levels were normal can’t remember exact numbers. My PAPP-A was 0.14MoM i have never been in this situation and im hysterical about it all and extremely anxious thinking my baby is not going to make it but im trying to make sense of this all and wondered if anyone could provide some reassurance on the whole scenario i’ve been scared to death by the midwife which has not helped at all. i am going for a private scan tomorrow as i just want to see my baby and have some more checks done just to help with my anxiety. i feel lost for hope :( if you think you could help with some advice or your own story that would be great thankyou for reading x

Have you been offered a NIPT test by your hospital? After my combined screening I was given a 1:136 risk of Downs (similar risk but different trisomy) and on the phone call was told I could either have the NIPT (a non invasive blood test with a high accuracy rate for detecting abnormalities - it looks at the fetal DNA in your blood), a CVS or amniocentesis (these tests involve putting a needle into your tummy and carry a small risk of miscarriage but I think it is very small! - but they can also tell you for sure whether baby has the condition), an extra scan with a consultant to see if they could see anything unusual with the baby, or nothing.

I opted to have the NIPT and was able to go in the next day for it. I then had to wait about a week for the results, which came back clear i.e. baby's chromosomes are normal. My hospital also gave me an extra anomaly scan at 16 weeks and my 20 week scan was with a consultant, not a sonographer. I'm now 33 weeks and baby looks great, all healthy and no concerns.

The waiting for the test results was the worst bit but I tried to remind myself that odds of 1:136 meant more than a 99% chance that baby was all healthy and that is how it turned out (to the best of my knowledge!!). That is also true for you - the screening will always catch more people than are actually affected and the odds are still very good that your baby is well. I would talk to the fetal medicine nurses about everything and decide what further testing you want to do, then you will be able to find out for sure and hopefully set your mind at ease.

I'm so sorry this is happening to you it is truly awful. There is an antenatal testing board which might reach more people with relevant stories of you wanted to post in there as well.
With my now 4 month old we had a 1:76 chance of Edwards/pataus and it came completely out of the blue since there was no indication of a higher chance based on the scan. It had been a difficult journey conceiving and honestly the news broke me, I remember like it was yesterday how you must be feeling.
We decided to have the NIPT done and whilst the wait was agonising it did come back low risk and baby was indeed not affected thankfully.
I know it doesn't feel like much of a comfort right now but your odds are very good, barely over the threshold for a higher chance screen of 1:150.
At the time, the screening midwife said she really was not expecting our NIPT to he higher chance and our odds were worse than yours. Your NT Is the same as ours was, again the midwife said this was very reassuring and that nothing concerning was noted on the scan so it's just your bloods that have pushed the risk up.
My papp a was roughly the same as yours (I also had low hcg hence the worse odds) so you will likely receive more scans to check babies growth as it can cause issues with the placenta but most are unaffected and you will be well looked after.
I'd recommend calling the ARC (antenatal results choices) https://www.arc-uk.org/
They are brilliant and listened to me for hours during the agonising wait.
I know it's utterly impossible to relax or keep calm, but my best advice is to do whatever you can to occupy your mind and seek whatever support you need to get through it.

hi malimoon yes i had one done yesterday and it honestly feels like time has frozen ever since they took the bloods, part of me feels like i don’t want see the results just from the fear of it all. oh my 1:136 and everything was ok that’s soo good to hear really hope my results are the same, the numbers really confuse me as i’ve read nearly every blog and medical site on this all and there’s just so much information and different outcomes it’s boggling my brain. as you already know the wait is agonising i feel i’m preparing for the worst but again like you said 99% chance everything is fine it’s trying to keep that in mind aswell as the dread of bad news. i will definitely speak to the midwife’s about everything as googling is not helping me feel any better. hoping for the best soo happy things turned out really well for you ❤️

@Chasingbaby2 thankyou it really is tough trying to keep it together the not knowing and waiting, thankyou i will definitely check this other site out i’ve struggled to find other sites to speak to other
women going through the same find it brings some comfort knowing im not the only one who’s dealing or gone through this. my situation was similiar
to yours i have pcos so its taken a good while to
get here and then be contacted with the news of an increased chance which they have also said is possible due to my PAPP A levels being low ive not heard of any of these terms until now and its all very daunting. the fact you’ve had the same as mine flagged T18 & T13 and you’ve come through fine is a little more reassuring even though each persons situation is different but your risk was higher, but having similar number with the other results that’s helped me a little to have a bit of faith thankyou for that. the midwife didn’t really go
through the odds very well with me and that really made me feel like i had a slim chance of coming out of this ok with a healthy baby so
i will contact arc and have a good talk with them to try settle the nerves. i have never been so on edge about anything in my life you never expect to be that one person pulled out for something like this very scary but thankyou again and i will take your advice on board and try keep occupied and talk to
arc ❤️

@mummabearno5 it's a really hard wait!! Just do whatever you can to keep yourself busy and keep reminding yourself about that better than 99% chance. If you can get the midwife or nurse to talk you through everything then definitely do. Best of luck and I'll be thinking of you

You are not alone. I'm sorry the midwife didn't explain the odds clearly but it's much less than 1% chance so whilst it's scary and obviously your mind goes to the worst case scenario, it's so so likely that your baby is not affected.
I hope the results come back quickly for you

@malimoon thankyou ! i will certainly keep that in mind and hope for the best, feel like a total wreck but i will try and stay positive and reach out for further support ! @Chasingbaby2 thankyou having it put that way helps a lot more wish these things were more introduced that way wouldn’t have such instant panic, but fingers crossed they come back sooner than later. i know it sounds OTT but when you received the call was the results given straight to you or did they speak with you first i’m just soo edgy on if her voice will give it away i may be over thinking everything but as you know you can’t help it

When they called me with my NIPT results the nurse said hello, introduced herself and said "I won't keep you in suspense" and told me right away that it all looked fine. They know it's a horrible wait so they will be sympathetic!

I had this with my 2nd child, one in 15 chance and I was beside myself with worry, it's so scary isn't it. NIPT came back and everything was fine, the relief was immense. Hope everything works out for you, the likelihood is it will all be totally fine.

@malimoon ohh thats really good, im sat here thinking it will be along chat then the bombshell results are dropped. honestly im clock watching everyday waiting for this week to pass, we have a scan tonight for reassurance so im hoping that brings a little closure in some way. @ElsaMars its horrible not being in control of a situation and having to wait you feel completely helpless and useless you think your babies are in the safest place inside you but still things can go wrong it’s awful. thankyou lovely i really do hope soo i would like to put this week behind me with good news

@malimoon @ElsaMars @Chasingbaby2 thankyou lovely ladies for your words of support and your own journeys with what i have had to go through it really lifted my spirits, i just had the phone call today that baby is low risk 🥹 and everything is fine the relief is immense can’t wait to meet her now x

Oh thsts fab news you must be so relieved. Really pleased for you. Best wishes for the rest of your pregnancy x

Great news OP! Enjoy the rest of your pregnancy

Great news!