Testing for Down's syndrome ?

[Sarahmains40]

Hi ladies I went for my early bird appointment and she give me forms and leaflets on testing for Down's syndrome, my partner and I have decided not to get tested as if the baby did have Down's syndrome it wouldn't change how we feel. My friend was really against testing for it but I'm kind of neutral about it all. Just wondered if any body else had the test or is thinking about it.

My worry is if I did get tested and it came back as a high risk I would spent the whole of my pregnancy worrying

[Fairydogmother]

The nuchal test isn't offered where I live but I had the triple blood test.

I prefer to know if there's an issue upfront but each person is so different.

The 20 week scan generally checks for other markers too

[KarmaBiatch]

If you're tested and come back as 'high risk' then you get further testing to give clearer results I.e. yes/no.

We had the testing done, which covered various other Trisomy abnormalities, and we tested high for Trisomy 18. It was devastating. However, we went for further testing and got the all clear, which was a relief as T18 results in either a stillborn or the child not survivng past age 1.

I'm glad we were tested, it was a horrible experience (emotionally), but it would have given us time to properly prepare/research anything that our baby was going to be born with, which we would have had time to 'get our heads around' and provide a comfortable and safe environment for our baby.

Good luck with your decision

[Bambamb]

We didn't with any of ours for the same reasons as you. Everyone else I know did get the test though. It's such a personal thing only you can decide really.
If you do it and get a high risk, would you wish to go on to have further screening which can carry the risk of miscarriage (amnio only I think). Its a small risk but if you don't wish to take it then you have a high risk result to worry about with no clarification which could be tough.
On the other hand some people would like to have that 'warning' so any problems are less of a shock after birth.
But Down's is one of many things that could be wrong so personally I didn't feel the need. We decided to take what nature gives us.

[Sarahmains40]

Thanks ladies my hubby is just like a straight no. And I was at first but I feel a bit on the side about it all I don't no what to do. I guess this is something I will have to think hard about

[Fairydogmother]

Sorry should have said that my triple blood test also covered other conditions - not just Down's syndrome.

[CrispyFB]

Things are very different in the last six months or so compared to what has gone before.

In the past, you'd have your NT screening, and you'd get a result. Generally if it's under 1 in 200/250 or so, you'd class as "screen positive" then as you say, spend the rest of your pregnancy worrying. Or, you could opt for invasive testing which carries a 0.5-1% chance of miscarriage depending on the skill of the doctor you go to.

I've had that screen positive for Down Syndrome - 1 in 34 with my last pregnancy. I declined the invasive testing (personal choice, no judgement on anyone else) as like you I would keep the baby regardless. It would be a different issue for the incompatible-with-life trisomies of course.

I spent 20 weeks worrying and feeling anxious, something I would not wish on my worst enemy, before having a late "safe" amnio at 32 weeks when the risk of loss turns into a risk of preterm labour.

This time out, somebody has thoughtfully invented a maternal blood test that although not diagnostic, is as close as you're likely to get without invasive testing. It tests for T13/T18 (incompatible with life) and T21 (Down Syndrome) just as the NT screening does, only much more accurate as it is looking at the chromosomes in your blood.

You can do it from 10 weeks (they take a vial of blood from your arm in the usual manner) and you get one of two results - 1 in 10,000 (low risk) or 1 in 2 (high risk). There's no in-between, so no running statistics in your head or needless worrying. You can also usually find out the sex.

The test is called Harmony, although there are other versions by different companies that go by names such as MaterniT21 or Verifi which are mainly US-based where the test is a lot more prevalent. The downside being is that it is not yet available on the NHS, and costs between £400-£600 depending on where you go. For the interested, it's £400 at the Fetal Medicine Centre in London which is one of the best places in the world to go for prenatal scanning.

So basically if you DID get a worrying NHS NT result, you could always opt for Harmony as it is risk-free and gives you a 99% result (i.e. it will pick up 99% of the babies with one of the tested trisomies) far more accurate than NT screening which is 90%. The downside being the cost of course, but if you're facing a 20 week wait or a risk of loss, the cost seems to matter less..

There are good reasons for getting an NT screening anyway regardless of beliefs over Down Syndrome etc. It's a chance to look at the baby and see if there are any obvious problems, including problems that could require further monitoring or treatment. A thickened nuchal fold is not just about trisomies, it can also indicate issues with the heart. The NT blood test includes a hormone that if very low can indicate placenta issues later on, which would warrant an extra growth scan later.

It's all down to personal choice of course whether to do the screening, but it's far better to make that choice in full awareness of the facts and the options you do have for further investigation if necessary. There's a lot more to it than "I'd never terminate".

[MortifiedAdams]

With my first dc I didnt want to test as it would be irrelevant (the result).

If I were to ttc again I tjink I would test as the results would have a massive impact on our current family.

[NoComet]

Totally a personal choice. DH and I agreed we would have all the tests before we TTC and agreed we would terminate for abnormalities because we would be the worst parents any disabled child could possibly be lumbered with. Totally impatient, intellectual snobs.

Also I very strongly believe you don't have a right to inflict suffering, you can avoid on your DC.

DD has a friend with CF, she is very bright and absolutely lovely. She predates testing, but is feel unbelievably guilty knowingly bringing into the world an intelligent child who could google every bad prognosis and complication of their condition, apart from the day to day problems she faces.

DD just sees a lovely, kind and very brave and practical girl.

My DF wouldn't have an abortion under any circumstances and therefore refused the tests.

It's a totally personal decision and I get very angry when doctors/MWs and sonographers don't listen to couples wishes.

[Rowanred]

We did the tests because we wouldn't be able ( nor want to) parent a disabled child. It wouldn't be fair on the child. It depends what you feel you could cope with. That said, I think there is something for knowing in advance so you can prepare, even if you wouldn't terminate.

[twistyfeet]

we never tested. As it was 2 of mine have autism and one has cerebral palsy, none of which you can test for. we love them just the same. Testing does not mean you wont have a disabled child and to me would have just added to worry and decisions.

[vj32]

I had the tests last time and will for current pregnancy because I would have an amnio and terminate for Down Syndrome. I know many people wouldn't but I used to work with children/teens with Downs and have seen how everything is a struggle for their parents to get what they are entitled to in terms of support for their child. It would also mean a huge potential future burden of care for my existing DS, on top of the reality now that as people we are living longer so he is already likely to have to care for DH and I in old age. I realise this doesn't mean I wouldn't have a child with a different disability but as the screening is available I would use it.

[thecakeisalie]

I had my dating scan yesterday and refused the NT test. I did however say I was happy for her to say whether it looked normal or abnormal. What I didn't want was a 1 in so many chance given to me. I think the lowest they can narrow it down to is a 1 in 10 chance with the NT and blood screening. With the invasive testing carrying a 1% miscarriage risk with an amnio and a 2% risk with CVS I just wouldn't risk miscarrying a healthy baby or even a baby with downs. We also know we wouldn't terminate unless we found out baby had a condition that is incompatible with life. As far as I'm aware the other conditions have markers they can pick up on scans whereas Downs syndrome is much harder to spot.

I personally couldn't follow the logic behind not being able to parent a disabled child. People I used to babysit for years ago had a perfectly healthy little girl but at age 3 they had a severe car accident and she was left disabled needing life long care - my point being many disabilities happen or are discovered after birth.

I appreciate though that it is a very personal decision and one based on emotion as much as logic.

[Shellywelly1973]

I didnt have any screening with my dc up until this pregnancy.

I have a ds with autism & Dp needed to know. It made no difference to me.

Of course there is no screening for autism so although we know the child Im currently carrying doesn't have DS, the child could be autistic.

Many people consider the fact i could have another dc with autism so awful i should abort anyway... Mainly family.

Screening has its place but there are no guarantees.

[SoonToBeSix]

I have never been tested for the reasons you stated op.

[SoonToBeSix]

Rowan being able to and not wanting too are very different. Of course you could parent a disabled child.

[Soupqueen]

To add to crispy's point, I was tested, had increased adds, amnio all clear. However, the blood test results that led to my increased risk can also be an indicator for early placenta failure and iugr.

Knowing this, the docs have been able to take extra precautions, 4 weekly growth scans and then weekly monitoring from 36 weeks and induction by 40 weeks.

I'm glad I had the test, despite the worries, as it has meant that these extra precautions have been possible.

[Soupqueen]

Odds not adds!

[twistyfeet]

very right soontobesix. I didnt want to parent a disabled child. I didnt get a choice. You dont. And you just get on with it. It's tough but not all bad. dd is, of course, the most beautiful and clever dd in the whole world

[Happyflower74]

I had screening and had a 1:2 chance of having a child with DS. I did not have any further tests but a few extra scans. I did worry during my pregnancy. My little girl does have Downs Syndrome and she is a joy like her sisters who we love with every inch of our being! Scans and tests are just tools that in my opinion sometimes give false reassurance or unnecessary stress. They have to be seen as a tool rather than a definitive answer. The scans my daughter had identified possible areas for concern that turned out to be nothing and missed a couple of things that she did need help with. If having a baby with DS would make no difference to you then in some ways the screening has little purpose in that it is not diagnostic. You require and amino or CVS for that. For an idea of what life with a child with DS can be visit //www.positiveaboutdownsyndrome.co.uk It should reassure you even further that DS is not something to be feared, it is rather a journey that you may not choose but one that brings emmense joy and pride. My daughter has just started mainstream school and is doing so well among her ‘typical’ peers. Relax and please enjoy your pregnancy!!

[curliegirlie]

My DD has Down’s, I’m pregnant again, and this time I’ll be going for the Iona test, not because I’d terminate for Down’s (my daughter is perfect with her extra chromosome and I’m not scared of the prospect of another child with Down’s), but because I want to reduce the chances of an unexpected post-natal diagnosis or people badgering me to have an amnio unnecessarily.

My daughter was given a 1in 1900 chance of having DS after NT/combined bloods. Ironically, this time I’m more concerned that the combined test will falsely put me at high risk because of DD and that I’m now 35. I’m hoping the Iona test will come out as low chance and will pre-empt my being hassled for an amnio. For Down’s, anyway, T13 and T18 are a completely different kettle of fish.

I’d second anyone with a fear of Down’s taking a look at the Positive about Down’s website, as well as blogs like Don’t Be Sorry. The latter is ace and very honest - it doesn’t downplay the challenges (although there are fewer than you might think) but does demonstrate that an ordinary family life can carry on

[Handy83]

My partner is concerned about downs. He had an older brother who had downs and wants to test for it. That said his mother was 19 when she had her first and had a further 3 children after him and they were all fine. Probably if the screening was available 40 years ago she would have come up as high risk for the other 3. The blood test sounds the best option but of course that's not covered in the nhs