High risk for DS

[Johnson10]

Hello everyone,

Looking for a bit of help / advice if anyone has had the same experience.
I had my 12w scan last week. Was told everything looked great & normal at the scan. She did say the baby was measuring 13w 3D. I got a phone call on Monday advising that I was high risk for DS (low risk for the others). They gave me 1 in 33.
My NT was 3.2mm. My HCG was 1.18. PAPP-A is 0.44. I’m 32yrs. First baby. This has got me so stressed & worried. We’re booked in for a harmony test on Monday coming.
Has anyone had this situation & ended up with a positive diagnosis?

Just sending love and support as currently awaiting the results of the Harmony. Odds still greatly in your favour (32/33) x

@jmm499 ... Thank you! It’s the most horrendous worrying wait. Sending love & best wishes to you. Hope all results are good. X

It really is, I totally sympathise. I had my Harmony bloods taken on 19/12 and it looks like I won't get them until the NY because of the bank hols. I am trying to hold it together but lots of tears and despair over here :(

I really hope your results are good too Xx

Anyone else had this? I’m so stressed I’m becoming ill.

@Johnson10 I'm so sorry you're suffering - you are not alone, the stress and upset is just so awful.

Hopefully someone will share their experience - in the meantime, if you search on babycentre uk under 'nt measurement' there are lots of threads where people share similar situations.

Wishing you all the best x

@Johnson10 I am so sorry that you are going through this. I was in a similar position a few months ago. I had a positive NT scan but then a high risk screening result for DS due to blood results. The week I waited for the NIPT results was truly horrendous, so I know how you might be feeling.

What kept me going through the week was thinking of the ratio as a percentage. In your case it’s almost a 90% chance all is ok.

@nanmumandmidwife is very knowledgeable and reassuring about this so hopefully she will be able to come along and offer her insight.

@MajorFaffington @jmm499

Thank you for your comments. Trying to stay positive, but it’s so hard.
I hope you both had good outcomes x

@jmm499

Did you get your results back?

Had my NIPT on Monday. Waiting game now. X

Hi @johnson10 I went through this a few weeks ago. I’m 30 and didn’t expect a high risk result. NT was 3.8mm. I had a detailed scan followed by the nipt which came back as low risk. I had my 20 week scan today and everything looked ok.
Hang in there, waiting for the result is so difficult. In my area you wouldn’t be seen as high risk NT (over 3.5mm only).

@robs20
Thanks for replying. They said my PAPP-A was low at 0.44 so that’s pushed my risk up as well.

Can you remember what your blood results were ?

Hi @Johnson10 I hope you’re doing ok.

My harmony results came back low risk which was an amazing relief (and a surprise as my risk was greater than 1 in 4!) I really hope the same is true for you. I’m not out of the woods yet as it was the nuchal measurement (and my age!) which largely caused my risk ratio so they’ve recommended an invasive procedure to look at the whole spectrum of chromosomal issues. I went in for a CVS today but they couldn’t do it because of the position of the placenta - I was actually relieved because of my miscarriage history. I’m booked in for an amnio in a few weeks which I’m feeling v apprehensive about. And then a cardiac scan at 20 weeks. So a few weeks of worry ahead for me yet.

I really hope you get the best news from the Harmony and that you manage to get through the next few days ok x

@Johnson10 I will double check my blood results in the morning and let you know. From memory they weren’t too off, it was the NT that pushed up the risk factor.

@jmm499 do you need a cvs if your harmony was low risk? I didn’t have to have one (only if harmony came back as high risk). I’ve had one early cardiac scan (17 weeks) and have another next week, it was scary but they were v good at explaining everything. Good luck with your scan.

Please don't stress, it's not good for you or baby. I can promise you that the reality of having a baby with DS won't be anywhere near as scary as you imagine.
Can I suggest whilst you're waiting for results you have a look at some of the stories on positiveaboutdownsyndrome.co.uk/

I have a 5 year old daughter who has DS - she attends mainstream school, goes to Rainbows, goes to dance & musical theatre and plays cricket.

I understand the worry because I was devastated in the early days but I wish I'd known then what I know now.

A high chance result for DS didn't ought to cause this amount of upset but sadly the way the news is given and the public image of people with DS is so outdated.

I'm happy to answer any questions if I am able to & please feel free to message me if you'd like support.

@user3billion
Thank you so much for your post!
You just want the best for your child, so any diagnosis will be devastating. No matter what the diagnosis is, it won’t change anything. I would never terminate, hence why I opted NIPT rather then amino.
I think it’s the waiting for results that’s hard. I do think the way the news is given & the lack of support off the hospital around it doesn’t help. At least once I know either way I can get my head around it all x

@Robs20 hmm they recommend CVS / amnio where I am but my nuchal reading was higher than yours (4.7mm). Interesting to hear that though! Still not sure what the best thing to do is so I'm going to speak to the consultant and see what the next scan is showing etc. They have suggested a cardiac scan at 20 weeks as the heart will be more developed then but might think about booking an earlier private one.... So pleased to hear things are looking good for you - good luck for your scan this week, hopefully you're nearly at the end of this stressful journey! Xx

@Johnson10 I hope you get your results sooner rather than later - have been thinking of you x

Yes, the waiting can be really tough! If you find out baby does have DS please get in touch as I'll be able to point you in the direction of positive support. If you're on Facebook there are pregnancy & new parent groups for parents of babies with DS. There's quite the community across all age groups. Good luck with your pregnancy & beyond whatever the outcome.

@jmm499
I got my results this morning & everything is fine. The relief .... feels like I’ve won the lotto. Felt like a living hell for the past 2 weeks.
And it’s a boy !!!!

Hope everything is going well with you. Thank you for all your messages of support & positive vibes. X

@Johnson10 oh that's great news! I was thinking of you a little earlier actually. Congratulations on your little boy :) It really is a relief like no other....the waiting is awful.

I am ok....waiting in anxious anticipation for my next scan but managing the anxiety somehow!

I hope you can relax and enjoy the rest of your pregnancy now :) xxx

@Johnson10 So pleased to hear your news.

Wishing you the very best for the rest of your pregnancy x

Thank you everyone!

@jmm499 - I’m keeping everything crossed for you. Hope all goes well with the scan. X