Devastated 1:4 chance of downs

[disconnecteddrifter]

I have had 6 consecutive miscarriages and finally got to 13 weeks at the age of 42. Combined test nt 3.8, hcg 1.5, papp a 0.5. This seems certain for downs syndrome in all three areas of the test. I'm going for cvs but it's not looking good. It's stupid to hope isnt it?

Ahhh the additional burden of teacher guilt! I ran rings round myself trying to fit things in that were best for the school rather than me. Dont do it! Look after yourself.

I hope you can find something to keep busy over the weekend, are you having the amnio instead? X

I'm having a lie in then cozy day with the kids I think the lack of sleep is a killer. They said they would try again next week but my placenta may still be low so advised me to go for the amnio. She said the only significant marker was the nt of 3.8 and in most cases shes seen this has resulted in a problem of some sort - usually downs but could be anything else.
Teacher guilt is a killer - especially as I feel I have taken time off for miscarriages and we are going back after covid. I will email my head today and brace myself for the fall out.

@disconnecteddrifter I’m so sorry they couldn’t do the CVS :( The same thing happened to me - it is emotionally exhausting. We did have low risk NIPT results to give us a bit of hope though (we had the amnio for the high NT to look at all chromosomes).

I was given 50% chance of my baby being ‘normal’, 30% chance of chromosomal issue and 20% chance of cardiac issue - that was for the bracket of NT 4.5 - 5.5mm. So I would definitely still hold on to hope especially with an NT only just over the normal range. I hope you manage to relax a bit this weekend x

@disconnecteddrifter and apologies, I haven’t replied to your earlier message - it’s so tough when you have a close friend pregnant at the same time and there are concerns about your baby. That’s not to say you’re not happy for them but it brings your situation in to focus even more in some way :( Sending love, you will get through this x

Hand hold, I've been there. I had private harmony before the standard screening which came back 90% chance of DS. NIPT are only screening tests so you always need CVS or Amnio to confirm. Both are low risk/negligible risk when you look at recent studies (no difference between control group and those who had the procedure) so please don't worry about that. Our baby did have DS and once I looked into it, I was absolutely fine about it! I'm a similar age and with two DC. Research shows a positive impact on siblings and family life. Amnio was straightforward! It was a rollercoaster but we learned so much.

I had 3.11 hcg and 0.38 Papp-a. Risk given (I was 38 at the time) was 1:19 for Downs.

Had a cvs, then a painstaking wait for results, and all came back clear.

LO shot out at 34+6 but apart from that is now a fully formed amazing toddler who has an incredible vocabulary, enormous amounts of sass and races around like a lunatic.

I have hope for you OP. Let us know how you get on

Thank you @bornninthe80s and others for the reassuring stories. The sonographer said just with a 3.8 nt measurement that was enough to indicate problems and doen syndrome was just one which probably would be ok. However as I have a low placenta and it's unlikely I can test for a couple of weeks, the positive outcomes of people who had healthy babies or babies with downsyndrome are really helping me to not be so devastated. If I have either of these two outcomes it will be great and if I dont I am not going to worry about it until I know for sure. It's just the way it is so thank you all so much

I've just seen, I thought it might be of interest. This and the documentary she did made me think twice www.instagram.com/tv/CEBaEDKjiyo/?igshid=ukgr2xnuuob6

3.& NT
1:3 chance
CVS - clear and full karyotype clear
16 week heart scan clear and NT now normal
20 week anomoly - all normal

I am thinking of you. It really was a horrendous period in my life. Stay strong and positive.

So nice to see so many others with happy outcomes and hopefully this is comforting not only for OP but also any others searching when in the same position

X

Any news? How you feeling?

@ColdCottage Thank you for sharing this!

I had 1:2 and 1:6 Edwards Patau. I went straught to CVS and DS was fine, no gentic abnormalities

It was a very stressful time, i feel for you and wish ypu both the very best of luck

Wow thank you for your messages of support. I am due in again on friday where they will see if my placenta has moved and if they can do the tests I will definitely update no matter what the outcome.
My gp called on monday and told me I had a uti. I must have had it for a least a week but had no symptoms apart from feeling generally unwell. I took the antibiotics but they have rendered me bed ridden and so so sick and made my defenses so low that this morning I broke down and in desperation I called the screening midwife in tears and said I was really sad. I didnt know what I expected but she was amazing. Really took time to speak to me and listen to me and I feel much better mentally now. My last day of antibiotics tomo and then I will try to do some school work and be brave and email my head to let her know I will need time off one day or the other.
My partner has his children on friday and they have some needs and I feel I might need someone myself if the cvs does or doesnt go ahead so I told a friend and she offered to pick me up from the hospital and take me back for movies and takeaway in bed afterwards so feeling supported kn real life too.
I'm hoping it is a happy story like the ones outlined on here but if it's not I just want to know - the limbo is killing me

I bet :( its so unfair about the placenta on top of everything else.

Im glad youve got real life support too, have you rang the ARC charity? They were intensely helpful to me for both knowledge and support x

The waiting bit and not knowing is the hardest time.

I'm so sorry, OP. The waiting and not knowing seems so unfair.

If it makes any difference, I had amnio with my first two and CVS with my last one due to the position of the placenta/baby, all simple, straightforward procedures with reliable results. At least you'll get the answers you need.

Stay strong op. Just another positive story here for you, twin pregnancy. 1:14 for DS with NT at 6.1mm and 4 other markers suggested chromosome abnormality for my T2. NIPT came back low risk although accuracy isn't as good in DCDA twin pregnancies. Had a late amnio at 29 weeks. All clear. Twins are 3y7m now and perfectly healthy.

Thought I would update. Just been for scan but placenta is still posterior so they couldnt do the scan. I have to go for an amnio in ten days so more waiting and will have to take an afternoon off school.
She said that they could see brain, spine face etc and there were no abnormalities. She said thats positive ans reiterates there is a 70 per cent chance of all being well with the 3.8 measurement. So who knows. I kind of wish this was done on way or the other instead of being in limbo.
One thing that worried me was the crl was only 79.8 and 35 centile. I think they date me 4 days earlier than I ovulated but trying to not google that now.

Sorry to hear you are still in limbo, I know how you feel having been there and I wouldn’t wish it on anyone! I would suggest taking a couple of days off work after the amnio aswell if you can, even if you have to take them as sick, as they normally recommend that you should rest.

i am no expert but i thought a heart rate of 172 was just more likely to be a girl!! Good luck with your cvs, thinking everything crossed for you x

Hope you don't mind me jumping in on this thread.

I am in a similar situation and feeling a bit lost at the moment.

Am 11+5 weeks with fraternal twins. The scan a few days ago showed high nuchal fold and no nasal bone was visible for one twin. My consultant was realistic in regard to expectations and that there is a high chance of downs or other abnormality. We will do CVS soon to confirm and already gave bloods for harmony
x

No of course not I'm sorry to hear of your worries. I hope Cvs works for you. The sonographer and midwife were not hopeful with me but the consultant keeps pointing out that my 1:4 risk means 70% of no problems at all. Having lived this for a couple of weeks I think all I can say is it does get easier to wait but try and relax also.

You can pay for the Harmony test privately. I did (think it was about £250) and the results were so tiny that we didn’t progress to the next test. I’d get the Harmony test

Thank you. I got the harmony test done right after the bloods and we expect the results end of this week. It’s just that only cvs or amnio can give us definitive answer given it is twins in regards to which one. I guess I am expecting the harmony to tell me what I think might be the case, although I would of course be love to be wrong x