Down Syndrome Testing- Am I making the right decision?

[Spaghettinetti]

I had my dating scan and booking in appointment this week. One of the things that was discussed was the Down Syndrome Screening Test. The midwife basically conveyed to me that the test was not at all accurate and that the only way of really knowing is to have an amnio. I've been Ttc for a while and have already had one miscarriage, so don't want to put this pregnancy at risk. I know I can have a non-invasive test privately but can't really afford the £750 that I'm told this costs. I'm also in two minds, because if I found that the baby had Down Syndrome, I really don't think that I could have an abortion. I'm 30, so realise my risk isn't so high....but I'm in a pickle and would live to hear from other people who are in a similar state of mind. Thanks.

You can have a nuchal scan at about 15 weeks (have to check that) which is about £150, or was 4 yrs ago...non invasive and more accurate.

For me personally, I had the non-invasive tests to estimate my risk. (blood tests and nuchal fold checked at scan).

I already knew I would not have an amnio but if the test came out high risk, I could prepare myself.

My first came out at a 1:10 chance but that was on blood test alone. Her Nuchal fold was within normal limits so I did not worry too much. The others all came out around 1:800 chance.

There are also other indicators that can be picked up on scans such as nasal bone etc.... With all of the non invasive tests that the NHS offer, it is likely you would have a proper indication by the time the baby is born.

For me I would only have had an Amnio if I was going to consider continuing with the pregnancy or if I needed to know straight away.

Have you had the results of your combined screening yet which gives you your likelihood of the baby having Downs Syndrome?

I'm 30 and pregnant with my first and my risk was only 1: 90'000 so extremely low risk. If my result had come back as high risk then me and my hubby would have had further invasive testing,

My personal view is that however great medical science is they can't test for everything - having a baby is a risk, as you have already found out. I had the Down's Test, it came back very low risk, however my baby was born with a different condition, which had not been tested for.

I think it depends on your outlook.

I knew I would abort for downs so it was pointless having the test. I figured that knowing I was 1: whatever wouldn't make me think anything because even 1:10 means 9 chances of a baby without downs which is still good odds to me.

The second baby I will be older, in the risk age, and have dd to consider so that may make it less black and white for me.

Wouldn't abort for downs *

The NT screening is reasonably accurate at spotting babies with Down Syndrome (or other trisomies) - what it is not any good at doing is telling you anything beyond a likelihood. The NHS considers anything over 1 in 150 to be low risk. The vast majority of babies who "screen positive" do not have Down Syndrome so it can cause a lot of needless worry.

If you do the NT screening, you'll get a risk factor. You can take it from there to decide what you want to do with that information. For instance, if it came back under 1 in 10, you may well decide to get an invasive test, or feel more justified in the charge for Harmony (which can be done for £400 at the Fetal Medicine Centre in London, but they MAY charge you for a dating scan/NT scan on top - you'd have to talk to them to see if they'd accept your other NT scan). Even if you don't live in London, the savings can cover the travel fees in many cases unless you're international!

The downside being you could get a result like 1 in 50, not feel it's enough to justify invasive/expensive testing, and then spend the rest of the pregnancy worrying for nothing.

For what it's worth, I personally feel the NT screening is worth doing anyway, because a higher nuchal fold can indicate potential cardiac issues (always good to be aware of these) and the hormone values from the blood test can sometimes indicate potential growth issues later on, necessitating a growth scan at 28 weeks.

Good luck with your decisions!

I had a CVS, which led to my terminating a pregnancy. It wasn't Downs, but was much more serious and I'm grateful for being able to have all the information.

Next time I got pregnant, I opted for an amnio and all was well and DS is 3.

However, here's a theory my excellent consultant shared with me about the miscarriage statistics about invasive testing. He said that most women who have the amnio are usually older and therefore slightly higher risk of miscarriage. He also said most women who have the test are also higher risk in other ways- maybe they have a genetic issue or a high risk of Downs from a nuchal test. He also said that a CVS is done at around 11 or 12 weeks and that is a high risk time for miscarriage.

Therefore his theory was that the miscarriage risk was combination of other risk factors and that the procedure itself was safe. He had had no miscarriages from this since he had started doing it over twenty odd years ago.

I am not a medical professional but his theory made a lot of sense to me.

PS For what it's worth, the nuchal scan needs to be done BEFORE 13w6d, and that means baby measuring under that. So if you're measuring ahead, that can make it too late even if the gestation is actually less.

Yes it's a small window for a nuchal scan- I think after 11 weeks and before 13w6 as crispy said.

Thanks for your comments. It's really helpful to read your thoughts. I'm in Cardiff and here in Wales they don't do the NF scan on the NHS so I'd have to have it done privately...

Spaghetti Im in Wales too - you should get a combined screening at 12 weeks - dating scan and NT scan. As I understand they combine results of your scan with your blood results to give you an estimated risk.

I didn't have NT or bloods for downs because I wouldn't have progressed to cvs/amnio and wouldn't abort so wasn't convinced knowing a random statistic would be of any use to me. The most likely outcome would be worry over nothing. It is obviously a personal decision but I found it helpful to work backwards like that to see whether the tests would be of any use to me.

Can I just ask....do you mean that the NHS in Wales does not provide free NT/blood screening for downs but does provide free amnio/cvs? That seems very wrong that they jump straight to an invasive procedure...

Hi. We have had confirmation via CVS that our DD due march has DS.
I was against the triple blood test to begin with, but agreed for DP. It turned out that the Nuchal fold is automatically measured at the dating scan and if the measurement is out they HAVE to tell you anyway, regardless of whether you consented to the blood test.
I pretty much knew from the start that I couldn't terminate, but after the risk came back 1 in 5 then we opted for invasive testing and were referred to UCLH.
Amongst the amazing support Ive had here was the comment which I wholeheartedly agree with, that now, I can get through all of the emotion of greiving for my ideal, and accepting my real baby. Its true and Im now prepared and totally in love with my child. I think even with the knowledge that there might be a problem, the actuality, at birth, would have been a hell of a lot to take on board.
My decision was that if the odds of Downs were higher than the MC risk I would have further testing, but only to be prepared. It does also rule out Edwards and Pataus, which are far far worse, and would have been grounds for me personally to terminate.
You need to decide what you are comfortable with and go with it.

I didn't have any tests because I knew that we wouldn't terminate and the risks to the pregnancy of amnio or CVS were unacceptable. I felt that the statement of probability as to whether the baby had Downs or not would only have messed with my mind and that even a low statement of probability wouldn't have been reassuring. For example, if we were told that DD had a 1 in 10,000 chance of Downs every time I was somewhere were it was likely that roughly 10,000 people pass through a day, I'd have been looking for that 1 person with Downs and if I couldn't see him or her I'd panic that this 'meant' that DD had it. I know that's daft, but I know the way my brain works and I know how I like to torture myself!

At the end of the day, I argued to myself, this baby either has Downs or doesn't and statements of probability are largely irrelevant. If it's 1 in 3 or 1 in 3,000, SOMEONE is going to be that 1, and why not this baby?

But that's just the way I think about these things. Other people I know who also said they wouldn't have terminated did have the non-invasive tests because they wanted the reassurance, or to know that they needed to be prepared for the outcome where the baby did have Downs.

I think testing can be great if, and only if, the information will be useful to you. If it's not going to be useful and/or it's going to actively mess with your head, then why go through it?

And I was 39 when I had DD, so was in a higher risk group.

OP- I had it done in Bristol if that's any help. It was BUPA then and cost around £195, but I think it's a different company now.

Sorry OP, to clarify, the nuchal fold was done in Bristol privately but my CVS was done on the NHS in Wales. The results were analysed at the Heath in Cardiff.

For me I have lots of friends with Downs Syndrome children/ siblings and my brother is severely autistic and if I found out I was 100% carrying a downs syndrome child I would not terminate so it was a no brainer.

I actually got a lot of grief as I'm in the US and they thought it was 'crazy' and tried to push me into the test.

Also, I know people who have ds kids who had test results come back fine and people who'd been told that their baby was 100% likely to have ds and their children have been fine.

I didn't have testing with either of my pregnancies, I couldn't get my head around 1in 100 means baby probably doesn't have ds, 1 in 1000 means baby probably doesn't have ds.

If the nuchal fold is abnormal then they would notice that at the scan anyway. You can always say you only want to know if it is.

Of course neither of my daughters have ds....

The NHS test has a high false positive rate, I had a test privately with this is my screening which had a much lower false positive rate, they can do either just a scan which scans for things like the nasal bone, or a scan and blood test combined (this is not the harmony blood test but a similar one to the NHS one, however combined with the scan which is different to the NHS one it reduces the false positive rate significantly).

It is £100 for the scan alone or £200 for the scan and blood test combined, I had both but in retrospect would have saved myself £100 and a three day wait and just had the scan.

If you go to the this is my website it explains it in more detail.

I didn't want the NHS test as I think the false positive rate is like 1:30, and also you have to wait for a couple of weeks for the results to come back so this was a better alternative. If it had come back high risk I'd have had the harmony test rather than an amnio but luckily I came back low risk.