1:5 DS

[LaK1234]

Hi,
I've seen similar posts but currently awaiting nipt test results, the wait is absolutely agonising.
I had my scan last week, NT normal. PAPP A = 0.21 and HCG high (exact figure not known)
Just wondered if anyone else has been in a similar situation and what the outcome was?

Hello, sorry you're going through this it is horrendous. My initial tests came back high risk due to low PAPP-A and high HcG. I had the NIPT which came back low risk. It was the longest wait ever for the NIPT results. Thinking of you and hope you get good results! Xx

Thank you, were your odds the same... literally praying that I get the same results think ive scared myself half to death on google :(

Hi there, I was 1 in 33. High HcG & low PAPP-A. NT also normal. We paid £400 for a NIPT test. This was Christmas time & it was the worst Christmas ever! The wait is horrific. All came back normal & my son was born in June.

Congratulations on the birth of your son, really hoping that I get the same outcome, although I dont fully understand how they calculate the odds.
Think the wait is going to be made worse by covid too!

@LaK1234 How old are you? If you don’t mind me asking ... think age is in the calculation. It’s all based on averages. But you aren’t average. You are you !! And your bloods might be completely normal for you.

That's true... I'm 34!!

Think I'm finding the whole thing more frustrating as our baby was conceived via ivf and I probably naively thought that pregnancy once it happened would be stress free.

@LaK1234 Aww bless you! You have been threw it all haven't you. The wait is absolutely hell. I was 32 & they went on about age. Must be old once your over 30. Keep positive tho.

Ah that's awful -we had the same, I can't remember our figures but we had 1:5 as well. It's such a shock isn't it. We opted to have a CVS (like an amnio) and it came back fine, we had the results of it a day after the procedure. Wishing you all the best.

@Johnson10 Do you know what is considered high for Hcg? I have had a bit of an unnerving result as well.

Handhold here - the wait is nerve wracking (I had NIPT with my second daughter as I didn’t trust the accuracy of the combined test and thought it might give me falsely high chance of DS). Although, because I was referred on the NHS, I didn’t get the NT/combined bloods done so no idea what the results actually would have been to compare.

However if the result does stay at high chance, do not panic. If your child has DS it will be a slightly different journey to what you imagined, but your child will still be wonderful. My eldest daughter was diagnosed postnatally, as the combined test had given us a 1 in 19,000 chance and we were that one! We had the news broken to us at 9.30 in the morning (4 hours after she was born) by a consultant with a complete lack of bedside manners who went on to reel off a list of all the potential medical problems that can accompany Down’s. We were devastated as it came as a complete bolt out of the blue, I hadn’t even suspected from looking at her and we knew nothing about DS.

Over five years on I wish I could go back and reassure myself that everything would be ok. Cara has no heart or bowel problems, and her only medical issue was a slightly bumpy start to breastfeeding. We got in touch with our wonderful local DS charity, which has supported her with speech therapy and physio and we’ve met an amazing bunch of people through her. She learnt to walk just before she was 3, learnt over 100 Makaton signs through speech therapy and Mr Tumble (she now has a great spoken vocabulary and is putting more and more words together) and has had a fantastic start to mainstream school this year! She loves nursery rhymes on YouTube and counting and playing with her little sister.

There are loads of great resources for expectant parents the Down’s Syndrome Association website: www.downs-syndrome.org.uk/for-new-parents/being-pregnant/ and www.positiveaboutdownsyndrome.co.uk has stories from families in lots of different situations. Do also have a read of ‘Don’t Be Sorry’ and ‘I am River’ on Facebook for great blogs by a couple of mums on life living with that extra chromosome.

I’m always happy to answer any questions you have xxxx

@curliegirlie, I just wanted to say I liked your post. I've just found out, at the beginning of my third trimester, that my baby has a possible marker for Down's. This was rather a shock as my screening tests were very low risk. I've declined the amnio, as it wouldn't make a difference to whether I continue with my pregnancy or not, were I to find out one way or another, so I chose to avoid the risk of preterm labour. I've just been doing some reading about it to try to prepare myself in case we do get this diagnosis after birth.

Your daughter is beautiful x

OP, have you had your results?

First of all thanks for all of your comments, this group has been really helpful and there have been times in the last 2 weeks whereby I've read your messages of support and advice repeatedly.

@Curliewurlie your daughter is beautiful and your story is inspiring, it really changed my perspective and filled me with a new sense of love determination and hope.

I did get the results from nipt test today and the possibility has been reduced to 1/10,000 so it was a low probability and it has confirmed that I am having a girl!

Big love and respect to you all and empathy to others awaiting test results!

Sorry wrong name @curliegirlie!

Ah, fantastic! Now to enjoy the rest of the pregnancy x

My combined test was 1:5 but NIPT said v low risk
Good luck OP! The waiting is horrible! I played a lot of puzzle games on my phone to distract myself...escape room games. It really helped actually!!

Oh sorry, just saw your results! Congrats!!

@Somethingsnappy thank you so much and I’m glad my post has helped you. What was the marker they found? ‘PADS Great Expectations’ and ‘Future of Down’s Syndrome Pregnancy Support’ might be good Facebook groups to join. Good luck for the rest of your pregnancy, I hope all goes well. Do you have extra scans and things?