Did you test for Downs?

[Ladypug]

I had my first mw appointment today and she explained at the first scan we have the option to test for Downs. If it comes back high risk then testing becomes quite invasive. She said if we would have the baby with Downs then that would be a potential reason not to test. She also said some people just "feel" low risk or don't want the invasive analysis.

What did everyone here do? Did you test for it or not? X

But those would've been the screenings and not the tests wouldn't they? Screenings only give a risk factor but CVS or amnio lets you know for sure.

Artandco, you can't test "positive" or "negative" for Downs or any other trisomy at a 12 week screening. You can only get a 1 in X risk. A result of higher than 1 in 150 is considered high risk but it isnt referred to as positive or negative. The only way you'll know for sure is through Harmony, CVS or amniocentesis and as far as I know, these tests are very accurate. I would find it hard to believe that the two women you know had these tests and were given a wrong result.

We had the combined test last week. NT measurement was 1.8mm so wasn't too worried but combined results have come back as intermediate (between 1:100 and 1:2500) ours being 1:2307. They offer Harmony for free in my area so I'm having it tomorrow, otherwise I probably wouldn't have. I really don't know if we will terminate if it comes back positive for DS, part of me thinks I just couldn't, so we'll just wait and see what happens.

Terra - it's was amino tests they had after high risk indicated. Both said irrelevant as wouldn't have terminated, but felt it was worse being told possible, then def not, then was

We were asked today if we wanted it. I don't want any invasive testing, but as this is just nuchal fold/blood I said yes. We can change our mind when we go for the appt, we can opt not to have invasive testing if the screening came back positive. I would not terminate, but after we discussed it we decided we would rather be forewarned so we can prepare ourselves and get the support we need. I'm young and low risk, but you never know. And like others said, there could well be other issues, or it could be misdiagnosed, but I think we'd rather know than not know.

Seriously Artandco? Amnio is something like 99.99% accurate.

No I'm telling you for a random reason. Of course seriously!

Same as people getting pregnant on pill at 99% accuracy ( or whatever it is)

The Pill is a bit different though, as when it fails it's usually because it hasn't been taken correctly or because of something like D&V.

I chose not to have the tests for Downs. At the time I working in a special school and I knew a couple of children with Downs. It has affected my views about abortion for disablity.

Children can be born with all kinds of disablities that there are no tests for. Also a healthy child can become severely disabled through a stroke of bad luck like a car accident, cancer or mengentitis.

Once you become a mother the world is a more frightening place.

Surely you can't have an incorrect amnio result for Down's. The extra chromosome is either there or it's not. Like a pp said, it's over 99% accurate!

But an Amnio is 99.99% accurate. When I was researching how accurate the Harmony test was in comparison (I was told harmony was 99.5%) I read something about there being less that 30 children worldwide where it has been recorded that the amnio was negative when the child did in fact has DS. Those children had what appeared to be mosaicism DS.

I think the chances that you know 2 of these families is beyond rare. Im not calling you a liar, rather suggesting that somewhere along the line, whatever testing they had has been misinterpreted as an amnio.

I know someone who had a failed amino that is the cells collected didn't grow and they chose not to repeat the test, but I have never heated of it being wrong they grow the cells and look at the chromosomes unless some knobehead misscounts I can't see it happening somehow.

I have a picture of my chromosomes from my karyotyping, pretty cool but its clear to see there is a problem and I'm no genetics genius.

Disclaimer: I imagine the figure is higher than 30 children when you take into account those families whose info have not been recorded due to where they live. However, the data is recorded for developed countries. and of course, an amnio is less likely to be performed in under developed countries.

As pp have said it's not just Downs that they are testing for. I had the tests and for ds they can back as high risk due to high hgc levels. I have a history of miscarriage so opted for a private non invasive harmony test which gave me the all clear and peace of mind. And the kind sonographer at 20 wk scan took absolutely ages checking everything was ok. I have a beautiful boy and look at him sometimes and can't believe all the worry he caused before he was even here.

Yes with both pregnancies. With DD I actually had an amino as she was diagnosed with a heart defect in the womb which is very common in Down's. She wasn't.

I have my 12-week scan this evening (second pregnancy) so I've been through this before, but I was blissfully unaware of so many things the first time. I'm planning to have the DS screening, I'll be 38 in a week, will I automatically be high risk because of my age? The first time my risk was very low, almost non-existent but many friends have been high risk the older they are.

I've just read up on the harmony test - I'm in the SW and the only hospital that seems to do it is Spire. Can you self-refer for these tests should I come back as high risk? Or do you still need to be referred by the hospital? Are they expensive? I'd be terrified of doing amnio, but would want to be prepared. Feeling very anxious about all of this suddenly!

You can phone up and book yourself regardless of whether your results come back as high risk or not. I paid £600 in Harley street but it may be cheaper in SW.

Ps. It involves a simple blood test which is sent away for analysis to USA amd mine took exactly ten days to come back. There is absolutely no risk to the baby. Good luck xx

thanks v much to tango and everyone else for the extra info on FMC and harmony, really useful.

and also to "somesortofdeliciousbiscuit" for having the best username ever.

Cake, you won't automatically be high risk because of your age, don't worry. I was 37 (almost 38) at the time of my 12 week scan and my result came back as low risk :)

Fwiw, with the package I had at the FMC, they work out risk as it would be on the NHS screening and tell you that as well. Just on lifestyle, history, and age mine was 1/300, with the nuchal scan and NHS bloods it was 1/3500 and based on Harmony it was 1/10000. So I would have had a relatively low risk in NHS screening despite being 37.

I had two NT tests completed for each pregnancy (due to a mix up on my notes for my first pregnancy). Both times the results have come in fairly close to each other (think 1 in 85000 v 1 in 75000), so have not been too concerned. However if I get pregnant again, I will also take a harmony test due to my age as it has a fairly big impact on how they do the calculation.

Art I think you might've got the wrong end of the stick there - amnio is extremely accurate (far more so than the pill which usually only fails from imperfect use) and, as previous posters have said, the extra chromosome is either there or it isn't.

Cake, the harmony test is a private test so even if you are high risk you will not be referred for it. You will need to find a clinic and pay for it yourself. The exception, I think is Kings in London who do it as standard. I think it costs between £500-£800 depending on where you have it done.
However, almost all large hospitals will offer an amnio if your NT results show high risk. If you opt for this you will not need to pay. It is overwhelmingly accurate as it is diagnostic however, it is invasive. Harmony is non invasive but cannot claim to be diagnostic despite being pretty darn close (over 99% accurate)