1 in 2 chance of Downs from NT bloods

[anxietyfilledmum]

Hello,

I have never posted before and would love to hear from anyone who may have been in a similar position (good and bad).

I had my 12 week scan last week and was told that all looked great. However, the results have come back from my screening test to show that I have a 1 in 2 chance of our baby being born with DS.

I feel like it has floored me and never expected to hear that news after such a positive scan result last week.

My blood results show:
Free BhCG - 3.52mom
Papp A - 0.59mom
Nuchal Tran 3.1mm
My age 39

The hospital said that there wasn’t any markers that were particularly alarming but after talking to the Arc helpline today it’s apparent that my bloods are not great results.

We are booked for a csv on Tuesday and will hopefully hear the results by next weekend. The waiting is killing me and I'm terrified. This baby is our miracle after so long trying and I am really scared.

Has anyone had a similar prediction of 1 in 2 and it been a positive outcome. I know googling is not good but im desperate to hear that there is a chance.

Thanks for reading x

I have no experience with this but didn't want to read and run. Best of luck with the cvs and whatever you do going forward 😁

This is probably not the result that you were hoping for but baby still has 50% of not having DS!

I'm sorry OP I don't have any experience with this but I can imagine it's exceptionally stressful. There is a board here with many women in similar situations who share their stories it may be worth a read?
I hope that you get the results that you want.

Hi Op, sorry to hear you're going through this! Like the previous poster says, there is still a 50% chance that the baby doesnt have DS and these (in the grand scheme of things) are good odds. The CSV will give you a definite result so until then, try not to worry or stress. Do you mind me asking if you got the Nuchal Tran measurements from the scan or from the bloods?
Sending you all the best wishes for your little one xx

Hello,

Posting as also in a similar situation and need some reassurance during this awful wait!

Due to the position of the baby at our 13 week scan they were unable to get the NT measurement so I had a quad test. My results came back last week as 1:10 chance for DS. Completely devastated and now waiting for NIPT results.

I am 30 years old and this is our first child.

Any reassurance welcome!

Thanks I’m advance!

I didn't have the tests done, I opted out, but now I'm due tomorrow and I'm panicking because I wish I would of done them, I know it's no help to you but it's been wrecking my head this whole time 👎 sympathise with you so much Xx

Not quite the same but I had a >1 in 5 chance of DS. I had a amniocentesis and the baby was clear of DS, Edwards and Pataus. I was 40 at the time.

Mine was different in the sense that I didn't have a 12 week scan as I was too late along when I found out so I had the quad blood test when I was 16 weeks and they just went along with the results from that. So my baby's nuchal fold etc wasn't checked as I was too far along when I was scanned. I was worried though as I have three kids already and their chances of DS were extremely low. Good luck xxx and keep us posted x

Don't fret, I also didn't have any screening. I remember talking it over with the GP and he said "let me ask you this, if your baby was born with down syndrome would you love him or her less?" I said absolutely not, he then said "If your baby was diagnosed in utero with down syndrome, would you terminate?" I said absolutely not. He said, then stop worrying, don't do the test and enjoy your baby, what will be will be.

I found it really comforting. And when I did wobble, I reminded myself of those questions and my answers.

In the end I ended up with a healthy baby boy, who was diagnosed with severe dyslexia and ADHD 🤣 I love him with every bone in my body, and wouldn't change him for the world. No prenatal screening could diagnose that. But here I am chasing a constant whirlwind and printing homework out on blue paper haha.

What will be, will be. X

MoscowMules

Thank you for your reply, that's the same thing the midwife said to me on the day, and I had the same mindset as you, I wouldn't of changed anything and will still love baby all the same, I had a late scan at 37weeks and the midwife showed me baba in 4d on the screen and their face looked different but it was hard to make out because they had their hands in the way too, but that's what's made me have a lil wobble, I already have 2 DC one is ADHD too and I had the tests with both of them and they where extremely low, and I'm only 29, like you said what will be will be, I'll find out soon enough Xx

What made you opt out?

A friend didn't have the tests but was told her daughter was going to be downs and when born, she wasn't.

Not sure tbh, it's something I hadn't thought about and then at the scan when they ask, I just was a bit unsure for a second and midwife just said would it change anything for me if baby was diagnosed? Would I terminate or love baby any less and I said no to both so just decided to not have it, but part of me wishes I had now just so I'd have been able to prepare myself just incase Xx

Someone I worked with had a 1 in 2 chance but the baby boy was born without DS or any other syndromes. I ended up teaching him a few years later. X

Hi OP im so sorry you are you going through this. I had a 1 in 5 from bloods and NT and sadly ended up with a downs diagnosis after CVS. When you have your CVS the consultant will do a thorough scan of baby and should hopefully be able to give you an indication of likely result. At ours it was fairly obvious from soft markets on scan (lack of nasal bone, fluid on brain) that result was going to be positive.

We did make the decision to terminate but it was a very difficult one and I recognise it will certainly not be the right one for everyone. There are lots of very positive stories including on here of people bringing up children with downs that grow up to have a very happy and fulfilled life.

Wishing you all the best and feel free to PM me if you need any support. It is an awful time you are going through and I genuinely wouldn’t wish it one anyone so be kind to yourself x

Years ago neighbours had one healthy child; the next was stillborn at term. In her 3rd pregnancy she was told the baby had Downs and offered termination. She refused. Her baby was born and did not have Downs.

My sister’s son was born with DS and he is an absolute joy. I have learnt so much that I didn’t know and I think there is still a lot of misconceptions about DS. Doctors were asking her right up until the birth whether she wanted to terminate which is so awfully shocking to me.

I wouldn’t worry about the test results, you will adore your baby either way 🥰

A former colleague of mine had a 1 in 2 chance that her second baby had DS. This was before the NIPT was widely used - I can’t remember whether she opted to have an amnio. Her daughter didn’t have DS.

Thanks for replying everyone. It is reassuring to hear that I’m not alone.

My NT result was from the scan and not the blood test. At the scan the midwife was not concerned at all but I guess combined with the other results from the blood test it would put me as high risk.

I just can’t seem to think positively and just keep preparing myself for bad news. I

I looked after a patient at work with DS, last week. Omg, what an utter darling she is. At only 14 months old she absolutely radiated joy. And had such a positive effect on everyone who met her. She made some crappy shifts so much better.

Good luck @anxietyfilledmum Waiting to find out is such a tough time.

I had a 1 in less than 5 chance for DS based on my bloods and NT.

My NT was 3.3mm, so borderline, although they didn’t mention anything at the 12 week scan.
My HCG level was 3x the normal, so similar to yours, although my PappA was a little closer to 1. They didn’t give me the exact numbers. Your PappA also doesn’t seem alarmingly low, but of course I’m not expert. I’ll be 37 when the baby is born and it seems being over 35 really swings the balance in the screening.

I opted for a NIPT test, which came back with a low result for DS. I’m now 26 weeks and everything was present and correct with the 20 week scan. The antenatal team said there’s no real reason for high HCG hormone levels - some women just do have higher than average and have completely healthy pregnancies. Im also having a girl, which some believe does indicate higher HCG at the 12 weeks+ stage of pregnancy.

I hope everything works out for you and you have peace of mind soon.

@anxietyfilledmum1 when I had my amnio I got the result by phone call the evening of the following day. So I hope that you aren't kept waiting until next weekend, if your amnio is Tuesday xx

My nhs test actually came back low risk and my daughter does have Down Syndrome

Yes it took adjustment but she is just incredible. I wouldn't change a thing.

It's not the diagnosis it used to be and if your child does have DS do look as what the diagnosis means today. Positive about Down Syndrome is an amazing charity with an expecting parents page which is very supportive regardless of what your decision is either way and give realistic expectations of what life with a child with Down syndrome is.

@PrayingandHoping Same here - low risk for my age, but hey presto…!

I can’t imagine life without my daughter.

Jesus, what awful criteria on which to base the decision as to whether you'd rather know before the birth.

I had a traumatic birth with a surprise disability (not DS but still was completely unprepared for a lifelong disability, as were hospital staff - awful situation).

I know the midwife was probably trying to help but it's obviously going to make the patient feel railroaded if they frame whether you should opt for screening as "would you love the child any less?" as the only reasonable answer to that question is no.

Thank you everyone for replying. I’m new to this forum and don’t know how to reply to individual posts.

I am trying to keep myself busy but it’s without doubt one of the most difficult weeks of my life. The waiting is horrendous and to know we still have another week to wait feels really tough.

We already have a young child and need to stay positive and distract ourselves for them as don’t want to upset them too. I really appreciate everyone’s kind words of support and experiences x