Genuinely concerned about Down Syndrome risk result! (Title edited by MNHQ)

[sweetmotherog]

Mine has come back as 1 in 1000.

This seems quite high considering other factors. I know someone much older than me who's risk is 1 in 1600...

Yes I know there are women who receive a result of 1 in 150 or even 1 in 80 but those people would have other risk factors too I thought.

Why has my result come back so high I wonder?

Mine was 1/250 with dd. I didn’t even consider it an issue then. No midwife spoke to me about it. Dd is now nearly 14 and no downs.

There's actually an increased risk for younger mothers as well as older mothers. It's the ones in the middle age range who have less risk. Though admittedly off the top of my head I thought the raised risk was more the sort of 16-20 age bracket.

Further testing isn't offered until you get to results of 1 in 250. So yours is a lot better than that. Like previously mentioned you could pay for a Harmony test.

Sleepy That's mothers aged 14 to 18 (a source from a study in 2015), however, that risk is still lower for them than that of a 35+ woman

Does anyone know if the harmony test is available to pay through the hospital or if I'd have to definitely go privately?

I can't seem to find a fairly local clinic that would do the harmony test.

Could I request an appointment with a consultant to discuss why my result isn't lower? Surely they'd know as they'd have the blood work results and the scan result....

My trust doesn’t tell you your risk factor, you just get a letter saying either high or low risk. The cut off is 1:150. So with my three, my risk factor could have been 1:160 and I would just have been told ‘low risk’.

The consultant won’t meet you with a result that low risk. You’ll have to go to your GP if you want to talk more about the result. It’s unlikely they’ll do anything else to reassure you, but may offer an amnio if you are very concerned (which has some risks attached)

The Harmony test is about £4-500. Lots of private clinics offer it, I’d be surprised if you couldn’t find a scan studio near you that can arrange it. You won’t find an option to pay through the NHS but you may find your local hospital has a private fertility clinic on site which may offer the test.

The screening midwife I mentioned before should be your first point of call if you want to discuss your result further. A consultant appointment is not necessary.

You should be able to request the breakdown of results under data protection I would have thought? But that may not explain why.

We had a risk of about 1 in 1000 for a different syndrome where the overall average is more like 1 in 20,000 - so relatively we are high risk, even though 1 in 1000 is still a low risk. We decided not to do amnio though because introducing a 1 in 100 risk of miscarriage in order to rule out a 1 in 1000 risk seemed silly. I would have done NIPT quite happily but annoyingly although it's available for this syndrome it's too early and no insurance covers it yet (we are abroad).

If you're so adamant you will only keep a genetically perfect baby OP I wouldn't bother finding out the breakdown of your very low risk FACTOR, I'd just focus on finding somewhere to do the harmony test ASAP

Another option for more info is ARC (Antenatal Results & Choices). They have a helpline which you may also find useful. Their website is arc-uk.org. Helpline is 0845 077 2290.

I ageee with @SleepingStandingUp. No one will be able to tell you why your results have come back high risk - it might be your body, or it might be Downs. The only thing you can do is pay for dna testing which is commonly available. The nhs Won’t do anything and even if they did you’d be mad to have amnio and introduce miscarriage risk

I got 1:80 had a CVS and everything was fine, I was 24. My cousin was 22 and got 1:3 and everything was fine. Never found out why as as far as I knew all measurements were fine so must have been the blood test.

Harmony (and other NIPT tests) are screening tests, not diagnostic tests. They do not give a yes/no answer, they give another ratio/ probability - advising otherwise is simply not correct.
Only CVS/Amnio give a yes/no answer.

As PP advised, it may be worth you talking to ARC and your screening midwife as it’s clearly causing you anxiety. They will be able to advise further.

Could I request an appointment with a consultant to discuss why my result isn't lower
No, consultants will be spending their time talking to women with serious concerns about their pregnancies.
You would be better asking your midwife to refer you to perinatal mental health to get some suppport for your health anxiety.

Whilst that’s true, I’m not sure if you’re indicating by saying that that they’re inaccurate tini? Because they will deliver a very accurate ratio, especially in the negative.

If your risk then comes back much higher (ie 1 in 2)you will obviously have to have an amnio to confirm the abnormality.

Mine came back 1:50,000 which is as high as they measure. That’s a negative. If your 1 in 1000 comes back as a 1 in 2 you’ll need an invasive test to confirm, but the difference is armed with that result you’ll get one. You won’t get one now.

They explained to me the risk based model only applies to dna testing due to mosaic pregnancy, which is very, very rare.

That sounds really low risk though. I got. 1 in 11 chance at the age of 31 due to a nuchal fold measurement of 3.2mm. Had a CVS, baby was fine and now gearing up for uni next year (touch wood). I found out via word of mouth that the lady who measured the nuchal fold had a very high level of positive screens.

I think there is a very real chance that ANY pregnancy can result in disability (I read 1:50 ages ago but could be similar now). If you plan to reproduce I think you have to be aware of that. Your chances of this particular outcome seem small.

The consultants will be busy with those who had higher risk results, and helping those parents who need more than 'a second thought' about whether or not to terminate a much wanted baby for medical reasons.

The way I like to look at these things is to flip it around.
I got 1 in 50,000 in my early twenties. Now I’m my thirties I’ve got 1 in 35446. My baby could be the 1 baby with Downs or she could be the 35,445 that don’t have Downs. If that makes sense?
I have a 1% risk of my baby having very severe abnormalities from FVS and I initially considered a termination but when I considered it as a 99% chance of being fine, there was no way.
I’d say the harmony test would be a great way to go if you can manage to afford it. At least you’ll be able to relax and enjoy your pregnancy then 😊

If you're so adamant you will only keep a genetically perfect baby OP I wouldn't bother finding out the breakdown of your very low risk FACTOR, I'd just focus on finding somewhere to do the harmony test ASAP

I'm not so sure why you're wording it like that. I'm entitled to carry a pregnancy to term on the grounds that it is healthy (as far as I can possibly know).

The harmony test does seem like a good bet

I'm entitled to carry a pregnancy to term on the grounds that it is healthy (as far as I can possibly know).. I don’t really understand the intent of this? You can choose not to continue any pregnancy in the uk at your stage.

No one is "entitled" to carry a pg to term. If only that were the case!

@sweetmotherog well I mean exactly what I say. I assume of you'd definately abort a baby with DS you wouldn't keep a pregnant with other genetic abnormalities.

It doesn't matter why your risk factor is what it is if you'd definately have an abortion if there's any issues. Why waste weeks chasing round for an explanation when the only thing that will put your mind at rest is a definitive answer. So get one and go from there. You're already 12+weeks, I presume you want to make any decisions about abortion ASAP?

Your entitled to carry a pregnacy or have an abortion at your stage of pregnancy, no one is questioning that.

@Pandaintheporridge sorry yes, you're right

It's normal to worry but agree with pp - either have a definitive test or try to move past your worries, you can drive yourself mad otherwise.