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Talk about every stage of pregnancy, from early symptoms to preparing for birth.

Original poster

Did your high risk result for Down's syndrome result in a baby with DS?

66 replies

needtobeanonforabit · 27/02/2017 16:25

Coming to the end of my 2nd trimester we received the sad news today that I am high risk for our baby having Downs at 1:44, the neck measurement at our 12week scan was also 3mm. Threshold for normal range is apparently 1:297 and below 3.5mm.

Booked into have the Harmony blood test, and if this comes back as positive still, we will opt for the CVS for a more conclusive result. I don't know yet that we would even act on it if it did come back as conclusively for Down's. I don't know enough about Down's to be making an informed decision at this stage and I don't know that I could bring myself to do it anyway, but I just feel that I need to know one way or another.

So my question is, if you also had a high risk given to you in the NHS initial blood work for chromosome abnormalities at 12 weeks, what was the figure and what was the result?

Thanks in advance to anyone who is happy to share,

From a very frightened first timer :-( x

OP posts:
primaryboodle · 28/02/2017 07:50

Mine was 1:13 with a 3.5 nuchal at age 22, healthy baby born girl 8 months ago.

Original poster
needtobeanonforabit · 28/02/2017 12:39

Oh swifey Blush thank you, what a kind thing to say. I feel quite overwhelmed by all support here.

I didn't realise that, thank you, will have a look.

OP posts:
hopeful31yrs · 28/02/2017 12:52

Sat cuddling my son who was born with no chromosomal issues despite a nuchal of 4.2mm at 12 weeks. Had NIFTY which came back clear and fetal med follow up.

Horrendous wait but googling reassured me and found a lot more positive stories than bad.

All the best x

hopeful31yrs · 28/02/2017 12:53

Ps my risk was 1:5

mswales · 01/03/2017 23:37

In her amazing book where she crunches the actual credible data on all pregnancy questions/issues, economist Emily Oster has a whole chapter on screening and what the percentages of false positives and accurate results are for all the different tests and for women of different ages. Would massively recommend it. Very best wishes x

sunshine916 · 02/03/2017 13:12

Just been through the exact same thing. Nuchal 3.9. Downs risk 1/28. Had Harmony test last Friday got results yesterday, quicker than I expected thank goodness. All low risk. It really has been 2 of the most stressful weeks of my life.

We still have detailed scans & heart scan to go & unless they show up anything of concern prob won't have amnio. So not quite there yet but feeling much more positive today.

Hang in in there & everything crossed for good test results. Xx

sweetchilli77 · 02/03/2017 14:18

i was 1in5 so very high risk going off bloods. Refused amnio due to already bleeding so opted for harmony which came back low risk >1-10.000

Original poster
needtobeanonforabit · 02/03/2017 14:43

Thank you all so so so much for your replies. It has been of huge comfort to hear from so many of you who have been in the same situation, and with higher risk numbers than us, yet have had the all clear. I hope that we're as lucky as all of you who did. I didn't realise a high risk result came back for seemingly so many, the hospital made it sound like it was the exception to the norm, hence their cause for alarm.

I just feel so totally overwhelmed by your support and it has helped to put my mind at ease a bit during this horrid wait. Husband keeps reminding me that 1:44 is something like a 97% chance of baby not having chromosome abnormalities and they are good odds. Still, I don't think we'll sleep until we get our results from the Harmony. Expected on or before Tuesday so could hear back any day now...

Thank you to everyone again for your kind words and well wishes xx

OP posts:
Original poster
needtobeanonforabit · 03/03/2017 21:58

Still no news and so now it won't be until next week .... Arrrrrrrgh!!! Sad

OP posts:
MadeForThis · 03/03/2017 22:20

Good luck. We were 1:5 with a nt of 4.5. Had the harmony test. Results came back low risk. DD was born fine.

Think the nhs ratio can be influenced by so many things. Age, weight etc.

PollytheDolly · 03/03/2017 22:31

Gosh things have changed! My DS is nearly 22 and my TT result was 1:146, so booked in for amnio and was bricking it. I was absolutely convinced he was downs. First baby. Anyhoo went for the amnio and keep thinking....downs 1:146...amnio risk 1:100. Hang on a minute!!

It got to the point where the doc had the needle in his hands, just had a scan and saw my little boy's face..and I said "no, wait, no"

Doc was "but everybody has this test?!"

My exH "well, she ISN'T, ok?"

Baby was fine. Wish there were these other things out there then like there are now. And really 1:146 if you think about it......

Mind you it still went tits up, bloody pre-elampsia followed.

Anyway OP, these other tests sound the way forward. It'll be fine Flowers

SarahOoo · 04/03/2017 06:12

In October our risk was 1:85 for Down's Sydrome and 1:78 for Edwards and Patau's. Our baby's NT was 3.4mm and bloods were about half of what they should have been. We had the CVS first (it was all an emotional blur at the time at Kings and they didn't mention the NIPT as a first option). However it came back clear for everything. We then had an extra heart scan at 20 weeks which was also fine.

Thinking of you as that time between waiting for results is awful.

goldangel · 04/03/2017 06:51

I had a similar experience to polllythedolly, my results were 1:125 but amnio miscarriage chance 1:100, I declined the amino, had extra scans, ds came out completely normal. There was no harmony test back then.

LavenderDoll · 04/03/2017 07:12

We had similar. DS born without DS.

JonesyAndTheSalad · 04/03/2017 07:14

My sister had a high risk but her twins were born without. She was 41.

GLLU · 04/03/2017 07:25

My second child had a nuchal measurement of 3.4mm and our overall risk was 1:60. She is healthy and fine.

Our third had the same nuchal Reading but I was older and bloods were worse so the risk was 1:10. Had Harmony and got v v v low risk. He is fine and healthy.

Fourth I declined nuchal as I clearly make babies with think nuchal folds. I went straight for Harmony. Such a better experience. All fine.

Meanwhile my friend was given a 1:1500 combined test risk and no other risks identified but her son was born with Downs.

GraceGrape · 04/03/2017 07:32

I had 1:73 risk with my second pregnancy. It was before harmony so I had an amnio - all clear. I had a nuchal fold measurement of 3.5mm but the predominant factor in my high risk results was extremely high HCG levels in my blood tests. I remembered that I had been called to discuss the high HCG levels after the blood tests in my first pregnancy too, although overall risk was much lower because of a lower nuchal measurement (and being younger).

intheknickersoftime · 04/03/2017 07:37

All three of mine had reasonably hign probability. My DD was 1 in 150 ish and I was offered an amniotic which I had. She's 14 and fine but it was terrifying. My youngest DS was 1 in 28 and I also had an amnio for him. He is 9 and also fine. It's a worrying time.There was a screening counsellor attached to the hospital when I had my youngest who was very helpful. Wishing you all the best Flowers

ReginaPhalange1 · 04/03/2017 07:37

I had 1 in 16 for DS.
Did harmony test and it came back low risk.
Waiting is the worst part but like others say please try not to think about it and keep yourself busy until you get results.

Congratulations by the way Flowers

ohlittlepea · 04/03/2017 07:38

My friends risk was one in 125, baby had normal nuchal fold, born with ds. The most wonderful boy who has enriched all of our lives in every way.
To learn more about ds there's lots on the association website, and a fab documentary called 'a world without downs' which you can watch on YouTube.
There was also a fab article in the guardian recently :) I will find it :)

ohlittlepea · 04/03/2017 07:40

This, really love how she explains things
www.google.co.uk/amp/s/amp.theguardian.com/lifeandstyle/2016/dec/31/my-sons-downs-syndrome-does-not-define-him

startwig1982 · 04/03/2017 07:46

We had a risk of 1:18 and were beside ourselves but I didn't have a cvs. We were sent for a heart scan and were there for all of about 10 minutes as the chap checked all four chambers and everything was fine. 5.5 years later, ds has not got DS.

MrsNuckyThompson · 04/03/2017 07:47

Harmony IS conclusive, you wouldn't need a CVS as well... have the test and see what's what. 1:44 is still a very small chance...

RyanStartedTheFire · 04/03/2017 07:51

Harmony doesn't test for micro deletions, so it isn't comprehensive, no.

SarahOoo · 04/03/2017 08:04

MrsNuckyThompson the NIPT tests are highly accurate screening tests hence the risk factor being the result rather than a 'yes' or 'no'. The invasive tests; CVS and Amniocentesis are diagnostics tests.