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?

I recommend the Harmony test actually. If you can? We went private many years ago and it was fabulous.

I think it might be available on the NHS now. Not entirely sure.

I believe that Harmony is safer than CVS but hopefully another poster can confirm.

Also our odds were 1:6 and Harmony came back clear. I know it’s a worry

You should be offered the Harmony test on the NHS before they progress to CVS. The combined test is rubbish imo, hold your horses until you get a Harmony result.

My odds with DS also came as 1:4. I had CVS and all was fine - apparently some women just produce more hormones 😂
DS now 11 and a bright normal child - wishing you all the best and fingers crossed!

Thank uo some much for your responses. I came home from work today and have been laying in my bed trying to research ans crying. My partner is away atm so had to have scan on my own and now the blood results. I feel like I can have no hope as all the three markers are pointing towards that.
They discouraged me against the harmony as I would like to know for sure. I'm so broken I think this is the straw that's broken me

They discouraged me against the harmony as I would like to know for sure
They shouldn’t have done that. Harmony is the next step to confirm the diagnosis, it has zero risk and could avoid the necessity of having a CVS which is very risky. You should definitely get the Harmony test - the result may mean that you don’t need the CVS at all.

@disconnecteddrifter I’m so sorry you’re having a worrying time 😢 My results were ‘worse’ and things turned out ok for us so please don’t lose hope. HCG was 1.97 and Papp-a 0.38, NT 4.7mm. Combined screening gave us a greater than 1 in 4 chance of DS. Harmony was low risk, subsequent amnio clear (which we had due to the high NT just to check all chromosomes), all scans incl cardiac echo normal. Our baby boy arrived safe and well 5 weeks ago 🙏🏻

Hang in there - definitely hold on to hope. Wishing you all the very best xxx

@jmm499 wow I am so pleased for you - you really beat the odds. I would like to take some hope from that at least until i find out. My friend just announced her pregnancy on fb exact same date as me and I'm so happy for her but cant stop crying.

I agree with pp that I would push for a harmony test first, then have the cvs if the result is high.
I had one, although my odds were slightly higher than yours. Take care I know it's a worrying time

Cvs really isn’t that risky - see item 3 here: www.google.co.uk/amp/s/psmag.com/.amp/social-justice/what-to-accept-when-youre-expecting-64495

Harmony is only a screening though, it can't tell you for sure. CVS is not risk free but it is low risk especially with modern ultrasound technology.

My daughter's best friend has down syndrome and she's absolutely amazing

I know it sounds scary at the minute.

I recieved a chromosome disorder diagnosis for dd after birth and its been tough but she's pretty amazing

Thanks @lauryloo I dont feel I could have a baby with down syndrome as I'm 43 and worry about not being around. Also one of my step children has additional needs and I have to consider the rest of the children and their needs. I know it sounds crazy at my age but I really didnt account for this and I cant think straight. I feel like the bottom has fallen out and I cant even get out of bed.

Been there got the tshirt. Im so sorry, its the worst worst moment when the sonographer announces the high nt and even worse when the bloods come back not great. My story is this:

Angel baby: 5.4 NT - didn't get the bloods as also had cystic hygroma and hydrops, was told basically 0% chance of survival, i was very young. Repeat scan a week later showed hydrops and NT had increased, i had a tfmr. Postmortem showed no chromosomal disorder (for the main ones) but was told it could have been a rare one or an issue with the skeleton or organs which would have led to lifelong problems or not viable

DD: 3.6NT, papp a and hcg similar to yours, 1:13 chance of downs. Clear amnio, clear 20 week scan, absolutely neurotypical now (with a big head!)

DS: 3.4NT, normal papp a and hcg levels, 1:126 chance of downs. Clear amnio, growth slowed down at the end. Absolutely neurotypical from what i can tell (hes now 8 months). Big head.

I'll never know if i aborted my angel who would have been fine, it appears i just grow babies who have dodgy NT levels and hormones.

All i can say is you gotta wait for the CVS. Its an awful wait, you can't help what the outcome will be and after 6 mcs its so unfair that you are facing this. There are plenty of positive stories and also some negative outcomes, you wont know where you fall til the CVS is here but i give you the biggest handhold and hug and i hope beyond hope its positive for you xxxx

So sorry OP. It is so tough when there is a question mark over your pregnancy like that. When is the CVS booked?

Guys the support on here has made me cry (in a good way) I'm so sorry for your loss at a young age @trogladite. And so grateful for you writing about it for me. Cvs is tomorrow. It's very sad but I am trying to come to terms with it and really the posts are helping me so much

sorry you’re going through such a lot of worry, but whatever the NIPT results, things will be ok, and Down’s syndrome is a slightly different journey from what you may have expected, but ultimately your child will be wonderful, regardless of the number of chromosomes.

My nearly 5 year old, currently playing with Brio with her little sister, who in a lot of ways is a lot harder work than her, had a postnatal diagnosis of DS at a few hours old. It felt like our world had collapsed, as the consultant delivered the diagnosis and reeled out all the related medical complications. But we needn’t have worried - our daughter is wonderful. She was lucky enough not to have heart, bowel or feeding problems (beyond initial difficulties related to her low muscle tone, which meant she struggled to latch on - but ended up breastfeeding for 2.5 years!). She crawled at 14 months, walked at nearly 3, and is a real chatterbox - both verbally and through her great knowledge of Makaton signs. She can sing along to nursery rhymes and loves numbers and counting. She’s my absolute superstar. And I know that a lot of her friends through our local DS charity had heart surgery when very little - obviously horrific for them and their parents at the time - but now a year or two on, are doing brilliantly. Lockdown has seen many of our little crawlers turn into walkers and climbers!

Do have a look at the Down’s syndrome association website (www.downs-Syndrome.org.uk) as they have excellent resources for new and expectant parents. www.positiveaboutdownsyndrome.co.uk also has lots of stories and experiences from parents (of all ages), grandparents, siblings etc. And there are a couple of really good Facebook blogs - Don’t Be Sorry (about a little boy called Oscar) and I am River, who, for that added bit of exoticism, lives in Tanzania! Both give really good, positive, but honest accounts of bringing up a child with Down’s syndrome.

Take care. I’ll be thinking of you and happy to answer any questions you have.

Personally I would do harmony as the results are certain, it's not invasive and no further risk to baby. Appreciate cvs is tomorrow but I wouldn't do it.

Did you ever get referred for the miscarriages?

*Apologies, that should read CVS. And I respect your choice, whatever it turn out to be, but do read the DSA and PADS things before making your decision, as a lot of the medics paint such a negative/scary picture of life, and it really isn’t like that....

At 32 I had a NT of 4.6mm, HCG of 3 and PAPP A of 0.6 (I think) which gave me worse odds than you at 1:3. My DS is now 9 and entirely ‘normal’. It’s not always bad news, there’s a 75% chance it’s all fine. Good luck tomorrow xx

God been there, got the tear stained t-shirt. My experience was 8 yrs ago and I had refused downs screening as I didn't want to know. 20 wk scan showed very small measurements and echogenic bowel (a marker for downs). I had never heard of a harmony test and the only offer was amniocentesis which I declined. So 20 weeks of waiting it was. If I could go back to that mess I was crying and making deals with the devil on the kitchen floor I would say, "have faith, have hope, you will find the positive, you will become stronger mentally than you have ever been, you will find a way, you will make this ok. P.s your baby is fine by the way. He doesn't have downs and he will become the life and soul of your world."

I have everything crossed for you. I have faith (or at least all the hope in the world.) Had my son been a girl, that's the name I was thinking of. Hope.

I suppose it depends how you think you would feel about having a Downs baby. If you just want a lovely new person either way just go on with the pregnancy. The Downs invasive tests do carry small risks to the pregnancy as I am sure you will have been told or read.

I have a consultant for my miscarriages ans the tested 3 of them which were 'normal' ironically. Said it was bad luck.
I appreciate what you're saying about the cvs but I think I need to know for sure and they said harmony only tests for 3 trisomies accurately.
Thank you for thr positive stories and sympathy it will keep me going for tomorrow and also the positive stories from people who have had positive experiences with children with ds.

hugs x

Thank you for sharing @SummerHouse. I have two living bio children and with them I didnt have any tests as I would have carried on with the pregnancy regardless and just had 20 week scans which thankfully were ok. I'm in a different situation now with 4 other children to think about and my parents are sadly dead now.