Down Syndrome 1 in 104?? AIBU to think this is a very low chance.

[Lai91]

Hi,

I live abroad. Went doctors today, 19 weeks pregnant. Doctors did a few tests before and today they said there's a risk of 1 in 104 chance that baby has downs.

They won't do anymore tests. I'm an expat and really confused. What does this mean

It really depends on your age - if you're in your 40s, that's low. If you're 25, it's high. It's impossible to tell without more information.

That means that for every 104 woman in your circumstances, or getting the results you have, 1 will have a baby with downs. 103 won't. Are there any private tests you could get?

While 1 in 104 does seem like a low chance, I believe that would be classed as a high risk medically.

I believe my last one was a one in... a high thousands chance and it had jumped up since my last last pregnancy as I'd aged into the over thirty bracket.

Can you get private testing (like the harmony test) done where you are? If you think it'll give you peace of mind.

27 years old

They carry out a down syndrome screening at the 12 week scan (or a blood test a little later if they can't get the measurements) and these are the results. Mine were something like 1 in 20,000 with all my kids so it does seem quite high. In the UK if you have a high risk (I'm not sure if you would qualify) they give you the option of amniocentesis to find out for sure but this comes with a risk of miscarriage. Sorry I don't have more info hopefully someone will come along who can clarify.

For every 104 people whose baby looks/tests like yours. One of their baby's will have downs syndrome. You've got to consider how bad that would be for you. Risk is all relative. If I had a fiver and I could gamble that fiver for a tenner but there was a 1 in 104 chance I'd lose my fiver then I'd still gamble, if there was a 1 in 104 chance I'd lose my house, I wouldn't.

Personally, we wouldn't have aborted DS if he had downs, we discussed it quite in depth. But a lot of people do. Downs is a big spectrum, some have health issues, some don't.

They should have given you more information.

When my tests were done (27 years old) my chance was something like 1 in 1,500 which is a low chance. If your birth year is 1991, I'd consider 1 in 104 quite a high chance comparatively.

Yes i think the chance is low really. They need to do more investigation though surely? You should be able to make an informed choice .

I am in England and the cutoff here for high chance vs low chance is 1 in 150. In my last pregnancy my chance came back as 1 in 160 where as in my first pregnancy it was 1 in 10,000. For this reason I paid privately to have an Nipt test. I went for the Harmony test. Maybe look in to that if you want further testing.

In my last pregnancy my chances were 1 in 10,000.

Sans again 3 years on at age 30.

At 1 in 100ish id expect to be offered further testing.

So it means that out of 104 women who have your test result, one would go on to have a baby with Down Syndrome.

A woman of 20 has a baseline risk of 1 in 1450, a woman of 39 has a baseline risk of 1 in 110 (this is very close to yours), and a woman of 45 has a baseline risk of 1 in 35.

So whether your risk level is low, normal or high for you sort of depends on your age. In some countries, a woman whose test results are in line with her age may not be referred for additional testing. But at the end of the day your results, even if expected for your age, mean there is a slightly less than 1% change that your baby will have Down Syndrome.

For context, where I live any woman with a risk of 1 in 300 or higher will be referred for additional testing (regardless of age).

Your doctor should have explained things better for you so you understand the situation and can make your own choice about pursuing further testing.

@Warrickdaviesasplates

While 1 in 104 does seem like a low chance, I believe that would be classed as a high risk medically.

I believe my last one was a one in... a high thousands chance and it had jumped up since my last last pregnancy as I'd aged into the over thirty bracket.

Can you get private testing (like the harmony test) done where you are? If you think it'll give you peace of mind.

This was the result in the harmony test.

Ah, sorry, cross-posted with you OP.

At 27 the baseline risk is 1 in 1200 so comparatively your results are very high. But still less than 1% chance.

Can I add that the measurements were fine taken from the scan and I didn't have risk factors such as older age or high bmi. It was the hormones that made my test result come out with that number.

I think the higher risk on the NHS is 1 in 150, so you would have been offered additional tests here.

It’s 103 chances against one chance. So it’s low-ish. For your age you would expect this to generally be higher - in the one to thousands area. But that’s only based on your age and there are other factors which can be considered.

Can you Google harmony testing, if you want further tests that is.
If you feel OK then you don’t need anything further, that’s the bottom line.

Harmony testing is non invasive and although not diagnostic, it’s 99.9% accurate.
You may find these types of tests are available where you are, if you want them. In the UK they are approx 400£ish.

15,000*

Sorry OP didn’t see your harmony update.

Ignore my comments.

If you have already have the non-invasive testing and you want to pursue further tests the next option is usually chorionic villus sampling or amniocentesis. These are invasive tests and come with risks, including miscarriage. They also may not be available in your country.

I had a really high measurement too at your age, I think it was around
1/60. I had a scan that looked for known abnormalities with Down’s such as heart defects, shape of the head and limbs and all came back clear, i was then offered amniocentesis which gave the all clear, this was 20 years ago though so tests may be different now.

I would consider amniocentesis in the same circumstances.

I'd consider that a high chance, if I was told I had a 1 in 104 chance of dying if I went swimming id never swim again.

For your age that's a very high risk as well, as for those under 35/40(?) its usually a lot lower than that (and its still tested for!)

I had a 99% chance of my baby having Down Syndrome after NIPT. That is high. I now have a lovely, healthy, happy 14 month old boy who happens to have Down Syndrome.

You might find the antenatal tests board helpful. Wishing you all the best.