Down's syndrome test and how they number the risk ?

[thea]

Hi ladies I'm slightly confused about the whole Down's syndrome test,
I understand they give you a percentage and that indicates whether you're high or low risk of your child having Down's syndrome.
But the numbering of this has changed and left me confused. I'm in Cornwall and was told I was low risk but the number is 1: 314
I was shocked when I heard it wasn't in the thousands like my daughters was, but they said the percentage system has changed so won't be similar ..
I'm very confused and would love your thoughts on this

Xxxx

 

[MrsLaw]

Hey Thea, from the results letter i got, the cut off for when they worry is when the risk is 1:150. Anything higher is meant to be safer and you're less at risk of downs or edwards etc.

 

[Ljd401]

Please don't worry. With my son I was 1:23 and he was absolutely fine xx

 

[babylove2016]

I'm really in two minds about these tests. I got mine back yesterday and it said Down's was 1 in 1525 and Edward's/Patau's was 1 in 10000. I didn't get a percentage at all so I reckon it differs by county. I'm in Wiltshire for example. Odd.. anyway, as the other posters said, your numbers are a-ok, I just wish they would give more indication as numbers vary so much on these things.

GL xx

 

[Pemsy]

My sister in law was high risk and still fine so try not to worry.
I felt the same, I heard some people were in the 1000s and my was 1:500 or so but take comfort in being classed as low risk. All turned aout well in the end x

 

[MissKW]

Where I am they say 1 in 150 or lower is a higher risk, anything above is low risk. Ours came back as 1 in 50,000. Whether it comes back at a good number or not there is still no guarantee either way. I know plenty of people who were at high risk on paper and had perfectly normal babies, so try not to worry

 

[Muffinski]

I just got the dreaded phone call. They say my risk is 1:131, and they want to meet us next week to discuss options. I'm so worried.

 

[Loula]

Muffinski could they not fit you in today?
My risk a few weeks ago was 1 in 91. Have they said why you are high risk? Mine were my blood results. My scan was fine.
How are you feeling about it? Would you go for further testing? X

 

[Muffinski]

Hi Loula,
No, unfortunately no option for today but I did manage to get in first thing Monday morning. Now I will spend the whole weekend anxious.

I admit I wasn't able to fully take in what she was saying but I think mine was bloods too. What did you decide to do? Did you do any further testing? I'd like to avoid amino if I can. From some research I did today, I found out that the Harmony Test can find 99% accuracy of whether the baby has Down's syndrome. It costs £500 but would be worth it I think.

There is a 1% chance of miscarriage with the amnio apparently.

 

[Loula]

That's awful our hospital rang us at 9am one morning and we were seen at 1030.
I had already done my research and decided that I wasn't really up for a cvs which is done before 16 weeks or the amnio. they actually recommended the Harmony or NIPT as in a few months it will be available on the nhs for the high risk mum's.
You have to think what would u if you found out your baby had downs, would it change your mind or would it not worry you. Do you want to know?
Personally for us our choices have been made and we opted for the harmony. We paid £395 with a scan included. Had it done on Sunday so anxiously awaiting results. You could always ring around and have it done this weekend they are pretty good at fitting people In.

 

[Muffinski]

Hi Loula,
Gosh, I really feel for you. I hope you get your results quickly.
I definitely want to know, I need to discuss more in detail with hubby but if I knew for certain the baby had downs I wouldn't want to continue with the pregnancy. So I'd like to get clarity either way.
I think we will end up going down the Harmony Test route too.

 

[TORino]

I feel for you muffinski - I had a phonecall too but my situ was that I had one marker elevated but the risk was still below the cut off. I had the harmony test and the results came back in 5 working days.

Try and keep yourself busy over the weekend. If your NT measurement was within the range that's a really positive sign and remember 1.131 is still really low chance despite being called high risk! Xx

 

[Loula]

So literally as I sent my reply to you earlier. The results came in. From sunday to Friday and we got Low risk.
Feel free to ask any questions x

 

[Muffinski]

Thanks so much Torino and Loula. Loula, that's great news!! You must be so relieved. Are you going to give the amnio a miss then, given your low risk result? Can I ask how they classify the results of the Harmony?

Torino, is the NT measurement the neck measurement?? She did say that that one was in the normal range (although on the higher end of the normal range). So that's good I guess.

I know 1:131 is still less than 1% chance so in all likelihood it will be fine. I just don't want to be that unlucky one in 131.

 

[Loula]

We don't need the amnio now we are happy with our odds which were less then 1 in 10000 and the screening team at the hospital have cleared us to.
With the Harmony they still give you a % and it's 99%. The blood test you have done gets sent to a genetics place in which they take the baby's dna from your sample and that's how they get the accurate result.

 

[TORino]

So pleased to her that loula, glad they called you today so you can enjoy your weekend and the rest of your pregnancy.

Yes that's the neck measurement muffinski. I drove myself crazy worrying about it and did loads of googling and came to the conclusion that the majority of babies with a chromosome problem have a high NT measurement, despite the blood markers.

 

[Muffinski]

That's so fantastic Loula, I'm so pleased for you!

Torino, I will confirm on Monday but I think she said that measurement was 2.9. I'm not sure how good or bad that is??

 

[Loula]

It's normally anything over 3 they begin to worry .My 1st daughter's measurement was 2.7. I got a print out on my notes of al baby's measurements at the scans x

 

[Muffinski]

Just wanted to say thank you both very much Torino and Loula.

I'm managing to stay fairly chilled out this weekend, am just having a really quiet one as I've picked up a cold so am slightly under the weather.

I'm thinking positively as there's still much more of a chance that the baby won't have Downs, than the chance that it will. I've made an appointment for the Harmony test on Thursday, that's the first day they could fit me in. It's exciting that we can also find out the gender with the Harmony Test.

I do hope everything goes smoothly from here, a bit naively I told everyone at work after the 12 week scan seemed fine this week. Just didn't anticipate this happening!

 

[Loula]

No-one anticipates it happening and we had just started telling people. You have great odd but I know how you feel. We found it the gender too. Also just think you get to see your baby again and i found it so much more relaxed then then nhs one x