Screening for Downs Syndrome - advice pls

[Ginger33]

I’ve had my results from the 12 week scan and it’s showing a 1 in 599 chance of Downs Syndrome. The notes say this is low risk but my last pregnancy the risk was 1 in 100,000 so 1 in 599 seems very high.

I’ve heard there are other more reliable tests available privately - the sonographer at 12w did have problems measuring nuchal size as baby was very active but can anyone offer any advice?

My results this time were 1/359 which is still considered low risk. The high risk for us is 1/150.
Ive had the harmony test done and awaiting results. Its more accurate than the nhs standard one.

You can pay for a NIPT test which is not diagnostic, but is more accurate than the NHS combined test. I believe there are different types but I had the Harmony test on Monday at my local hospital which cost £300 and results take about 2 weeks to come back.

Thanks @Happy2be, I was worried as it’s such a huge difference from my last one and seems worrisome. I might look into booking the Harmony test just for reassurance

Thanks @Whoevenknows79, not sure if my local hospital offers the Harmony test but I’ll check.

What all does harmony check for?

@Ginger33 totally get you. Mine also came with a higher NT at 4mm. So i was sent in to a panic. My results are due back this week from harmony and ive also had a scan with the consultant at 16 weeks to check baby all over. Booked in for my 20 week with consultant again to have another look and hopefully everything will come back clear again. Like you didnt have any of this first time.

Op 1 in 600 means a 0.17 % chance. There's a 99.83 % chance everything is fine.

It feels higher than last time but that might be your age, the fact they couldn't take the measurement well etc.

So whatever tests you need, but in the meanwhile please remember the rest was over 99% in favour of a healthy child

The test is called NIPT, but there are several brands available- harmony, SAFE, gensafe, IONA etc. It is a blood test form you, plus a scan and can be done from 10 weeks onwards. Prices range from about £300-£500. Check where the blood is analysed. Some places still end samples to the USA, which can add on at least an extra week of processing time!

Some trusts do it was routine if your combined test is higher than 1:150. It checks for T13, T18, downs, sex linked issues and sometimes a few other rarer conditions. Its more accurate than a combined test, but not as accurate as amnio or CVS.
Being older now will naturally increase your combined result, but 1:599 is not considered higher risk at all. Best of luck x

Your results equate to a less than 0.5% risk of your baby having DS. I can see why you’re concerned though.

Harmony test is non invasive (blood test) and carries no risks. It studies the fetal DNA and checks for DS, Edwards and Patau. It can also tell you the sex of the baby.

If you google NIPT test near you you’ll find a private clinic able to offer this to you. It’s around £400.

The NIPT looks at the circuating DNA of the baby- some of which will show in your blood after 10 weeks.

with my first my risk came back as 1:484. I was under the care of kings hospital in London at the time. they stressed that I as still considered low risk but because they were running a research programme at the time, anyone with a risk of lower than 1:500 was given the harmony test for free. it came back as 1:10,000 so the harmony test is clearly far far more accurate. It really put my mind at ease. My 12w scan for baby #2 is in a couple of weeks. I'm at a different hospital now so not sure what their procedures are but in my appointment letter I did get a leaflet on further testing should the screening test come back as high risk.

If you think of a real life example, 1 in 600 means that if 20 year R classes of children were all in a hall, 599 of them would not have DS and 1 would. Take that on a school level: in 10 schools with 2 class entry, you would find 1 child with DS in one of the classes, and every other school would have none.

That is very low odds.

Thanks all, I appreciate the assurances and especially providing the actual percentage risks represented by these results.

Wishing everyone currently waiting for test results the best of luck and hoping all is well!

Hiya,I had a 1/500 chance for Down’s syndrome and to me wasn’t high enough. So I opted for harmony test which checks the fetal DNA in your blood that comes from the placenta, so is extremely accurate for downs, I got 1/10,000 chance which is a low risk result. Although it’s not a diagnostic test it’s as close as u will get to negative screening, I’ve heard nothing but good things about this test. Could I ask did they say why yours come back at that risk?