Advice needed, 1 in 40 chance of Down Syndrome

[Mommmytobeuk]

I have had my 12 week screening which came back high risk for Down Syndrome.
Im 39 so I knew it would be risky. I have just had a NIPT test today and waiting for the results.

Very nervous.
My screening numbers were:

NT: 1.7mm
PAPP-A 0.53 MoM
BHCG 3.51 MoM

Anyone else experienced this and had a low risk NIPT result come back?

I'm 37 and thinking about another baby. I read the general risk for people our age and older is around 1 in 100. 1 in 40 is still a good chance the baby wont. I dont really know anything about the measurements but hoping the best outcome for you

I know it's really difficult to dwell in this uncertainty but remember that what is defined as "high risk" includes pregnancies which will produce a completely chromosomally typical healthy babies 95% of the time. Even if you get a risk of 1 in 3 that means you are twice as likely to give birth to a chromosomally typical healthy baby rather than one with Downs.

For each family, the "risk" is of different impact because for some they would feel that having a child with Downs would feel like a disaster whereas others recieve their special, different but lovely child with chromosome differences with joy. Only you can navigate your path through this. Good luck.

Would you bet on a horse that only had a 1:40 chance of winning or would you keep your money in your pocket?

I’m sorry, that sounds really stressful. Is this your first baby?

I’m 38 now and have started trying for one myself. From what I understand, these calculations take a lot of factors into account, but it doesn’t mean the baby will definitely have any genetic problems.

The NIPT test will help confirm things. Do you know when the results will be ready?

On a positive note, your baby has a 97.5% chance of not having Down syndrome. I hope your NIPT comes back quickly x

Hey,
I’m feeling more nervous than anything right now.

This is our third baby. We have one beautiful 15-month old little boy here with us. Our first baby boy, who was stillborn in my final trimester.

A lot of my anxiety comes from the fact that with him, the screening result was 1 in 153, which was just above the NHS threshold. Had it been 1 in 150 or lower, further testing would have been offered. Because his death was such a shock, we never went ahead with a post-mortem, so we never got all the answers. I think part of me has always wondered whether he may have had Down syndrome, and that uncertainty has stayed with me.

I’m finding this pregnancy emotionally challenging already because of everything we’ve been through, and waiting for these results is adding another layer of worry. I think it’s the fear of the unknown more than anything.

We should get the results back in five days.

Thank you for listening. ❤️

Op I am so sorry you are going through this. You may already be aware that there is a board on here for this kind of issue which I will try to post in a minute and also a wonderful charity specialising in antenatal results and choices called ARC. They are non judgmental and will support and listen.

https://www.mumsnet.com/talk/antenatal_tests_choices

www.arc-uk.org

Thank you.

Oh i wasnt aware, I thought i could post/ask anything on here.

First time using mumsnet.

I was 38 when I was pregnant and had same result. My NIPT result was inconclusive so I had an amniocentesis .. looking back I think I probably wouldn’t as I had already made up my mind I would keep baby no matter what but I thought it would help me to prepare if it was positive (it was negative).

but I know the anxiety during those weeks awaiting results and appointments so just wanted to send a hug and say whatever happens will be for the best and try to stay positive because and enjoy this pregnancy.

You can of course post here. It’s very worrying but please be reassured that it’s 1:40 and not one in 3 which is not unknown, with a positive outcome. The flip side is I work with volunteers with DS and they are lovely young adults all living independently from their parents, if the news is not as you hope there is plenty to think about, not an easy decision hence the suggestion of the pregnancy choices board - I’m completely non judgemental myself, as unless it’s you how can any of us really know what we would do

Op sorry I didn’t mean you couldn’t post here. Please do do that, but there is also a dedicated board which might be useful.

Thank you so much.

Such an anxious time isn't it.
I also want to be prepared, i dont like the unknown

Thank you for your kind words xxx

Do you have the test resoults?

I had this for both my pregnancies. 1 in 40 for the first one and 1 in 7 for the second. In both cases I had an amnio so that I knew exactly what I was facing. For me the peace of mind and having a plan outweighed the small risk of miscarriage.
Good news was both came back as negative, and both are now perfectly healthy young adults.So I concluded it just must be something about my body chemistry that is " not average"
Chances are it will be the same for you.

Mine was 1 in 25 when I was only 26! Sent me into a right panic. I ended up paying for NIPT private as I couldn’t wait for NHS times (they said a couple of weeks). Long story short, NIPT came back all clear and healthy 3 year old girl in bed as we speak. Turned out it was my hormone levels that triggered the result. Good luck

I can’t remember the actual figures now, but I had a ‘high’ chance of Downs with DD so I opted for amniocentesis as it gave a definite answer. There is a degree of risk though. I knew that I would terminate with a positive result. If I would have kept the pregnancy either way, I wouldn’t have chosen that. Anyway, DD was fine and is now 22 and thriving.

I was 38, 4th baby, 18 years ago. 1:35 chance.
Had a CVS, came back 46XX , so all good.

Really messed with my head though, as I'd prematurely made the decision to terminate.

Good luck, hope all goes well for you x

I was 32 with ds2.

he had a 1:52 chance of DS. We didn’t have any more testing and I don’t think we got given your measurements.

He’s now a strapping 18 year old with the world at his feet.

i wish you well, whatever the tests show and whatever you decide xx

NIPT results are back with low chance of DS.

Thank you for all your supportive messages.

I am so very grateful to all of you ladies and mummies xxx

NIPT results are back with low chance of DS.

Thank you for all your supportive messages.

I am so very grateful to all of you ladies and mummies xxx

So glad it's all worked out for you x