Screening for Downs - does everyone do it?

[miamix]

Wondering if anyone would like to share their views?

I had my booking appointment yesterday and was given the option of screening at 12 weeks for Downs Syndrome. I am 24 years old and healthy, and to be perfectly honest screening wasn't something I had thought much about.

My first instinct was not to bother, because it will just make me worry even more. I am getting stressed about every tiny thing during my pregnancy as it is, and obviously high stress levels aren't good for the baby.

I was also wondering, if I did opt to go for the screening, and was told there was a high risk factor, is this necessarily always accurate (obviously prior to further testing) in the likelihood that the baby will have Downs Syndrome?

Did anybody not test? Why?

Any thoughts appreciated, thanks.

The stats indicate that most ppl do in fact terminate for Downs or that they mc - figures about 94%. Suspect MN not representative nationally on this issue.

Have tested in all 3 pgs since I have an underlying condition which can problematic for mother and baby and I like to know what I am dealing with, even though I know the testing is not infallible.

nickoftime - i stand corrected - the 1k figure was prob a bit old.

midori - i know that. i grew up living at a residential school for sn (mum is teacher) plus i am a sw. i have known enough children with additional needs to inform my choices. i've also done a lot of disability rights and advocacy work in the last few years.

i don't count my chickens though, i know most disabilities are aquired, rather than being birth defects.

btw i hate that expression 'birth defects' whats a better way to articulate that?

Dinah, 94% of people who have a positive diagnosis of DS via amnio terminate. But that obviously takes into account only those people who chose screeening and then chose to go on to have an amnio. I know lots of people who declined the screening tests.

I agree with midori re. the 4D scan - my newborn dd2 was also checked over by 4 neonatal paediatricians, all of whom said my midwife was paranoid and there was no way dd2 had DS. They eventually agreed to do a blood test because my midwife was being so pesky!

I think the incidence of some kind of abnormality at birth is 1:50. That includes stuff like an extra finger or toe.

Thanks for all these very informative comments.

gaelicsheep - would you mind disclosing your age group at the time of making this decision based on the risk of MC compared with the average risk of DS? I have been finding it very difficult to find accurate information.

sungirltan - I hate the term 'birth defect' too. It feels like it is more fitting to apply to a product as opposed to a human life. It is a shame there is no articulation for this that isn't inherently negative.

I've just had an amniocentesis (on Tuesday) after being given a 1:21 chance of Downs Syndrome following the Triple Blood Test a week ago.
I am 31 so it was a shock to be told my risk was that high. The amnio procedure itself was terrifying and this week has been horrendous so far, waiting for the results and not knowing what's going to happen.

But I wouldn't do it any differently. Whatever they tell me, I would rather know at this point.

For the risk of MC - I asked my midwife what the hospital stat was and I also asked the consultant who carried out the procedure. They were both open and honest with me, which gave me a lot of comfort. It won't stop me miscarrying if that is what's going to happen but it was good to know their personal statistics which were much lower than the national average.

I have had the tests because I will terminate if I get a positive result back but the midwife pointed out that some people have the tests with no intention of terminating but so that they can use the time before birth to prepare themselves and their lives for a disabled child.

EM23 - really sorry to hear that - wishing you well with whatever outcome you have x

Thank you sungirltan - it's been really heartwarming how supportive people in RL and here have been.

As a parent of a child with DS and having just lost my twin baby girls, (they didn't have DS as far as we know) I would have done anything to be told they 'just' had Downs but would live. That totally puts things into persepctive for me. DS really isn't the 'monster' it is made out to be.

midori1999 - I'm so sorry for your loss
xxx

Zippy- just wanted to say, when I went for my 12 week scan the sonographer had no idea whether or not I wanted screening and I told her while she was scanning that I didn't. So if your doctor insists you could just go along and tell the sonographer on the day you don't want the test? If your doc comments after you can say you changed your mind...

Just to add my views... had no tests with DS1 all fine, no tests with DS2, all fine at 20 week scan and we were "the one" DS2 diagnosed with Downs at birth (although very hard to tell just looking at his face and confirmed with a blood test).

We didn't have the tests because we would not have terminiated. Now I do wonder would we have been less shocked if we had found out and had some time to prepare ourselves and family and friends. Downs is not he worst of things, and we hope our DS (now five months and so cute!!) will lead a happy and fulfilled life.

However, I do wonder about where will ante-natal testing end and as medicine becomes more advanced will more and more genetic conditions be screened out IYSWIM and will we lose something by not haveing anyone who is "different".

Having said that DP and I are in agreement that if we have another baby (and we hope to) that will will have the tests so we can prepare ourselves.

midori1999 so sorry to hear of your loss, I think you responded on the SN board when I first posted there about DS2, everyone's replies were so helpful. Thanks.

I decided not to for the same reasons as the first response to the OP. Later the sonographer said really the 1st tri screening is a risk assessment rather than a test or proper 'screen', the only test as has been said that is 'reliable' carries risks that I wouldn't be prepared to take. I read of a lady who came back as high risk, had an amnio and at 16w 6 days lost her baby due to a infection from the amnio. Results of the test showed baby was a healthy boy without DS. That kind of made me think.

Thanks Willbean that's helpful to know.

Miamix - I've been trying and failing to find the leaflet that contained the information we based our decision on. Anyhow, I am 33 and was 29 last time. I think the average risk is about 1 in 250 at age 35.

I don't know that we did an entirely accurate mathematical exercise, but I do know that the figures really did not stack up enough to make me think the screening test was worthwhile. About 1 in 10 (from memory) screening tests come back with a risk of more than 1 in 250, which is the trigger for recommended further testing. So I was looking at a 10% chance of having to take a decision whether to have further testing that carried at least a 1% chance of miscarriage. It was all much too woolly and uncertain for my liking.

Also bear in mind that markers of Downs can be picked up at the 20 week scan - about half of cases can be detected in this way I think.

Time will tell if we made the right decision, but for me the thought of miscarrying a perfectly healthy baby as a direct result of taking the screening test was enough to make me say no.

i didn't have the test with DC1 for the reasons that lilred outlined at the start of the thread.
also as others have said, you can't tell how severely affected the child will be, whether they will have additional health problems - a friend of mine with a child with downs syndrome said that the endless heart operations on her child were much worse than the down syndrome.
also nuchal scanning not available in my area (or wasn't then) on nhs so i would have found out really late i think.
with DC2 i was more equivocal, felt like i would want to know beforehand, be prepared although knew i wouldn't terminate. however, the midwife couldn't get blood out of me so i had to go and see the surgery plebotomist a few weeks later for my blood tests and she didn't know which envelope to put the test in and how to label it up so i couldn't have it!!

Thanks gaelicsheep and thanks again all for your useful insights. Midori - so sorry to hear of your recent loss x

Just thought I would update (in case anyone was interested!) that my partner and I have now discussed the issue at length (I actually gave him the link to this thread to look at as I have found it incredibly helpful) and we have decided not to screen.

According to the figures we have found, my age group has the lowest risk, and even though we know we could be the 1 in 1400, the risk of miscarriage (however low) from further testing is not one we are willing to take. If we had the screening and were found to be high risk we would choose not to opt for further testing for this reason and the heartache and worry that would dampen the rest of the pregnancy from this would just not be worth it, to us personally, so the right decision for us is not to screen.

Hoping for a healthy and happy baby, whatever the outcome though. Thanks again

Hi Congratulations.
I think Im probably going to say what a lot of other have said in that you have to think what you would do if the result was positive.

1/ If you have the nuchal and it was high wwould you then have the blood test?
2/ If that was high would you have further testing ?
3/ Would you have diagnostic tests i.e cvs amnio ?

I think depending on these answers on how you go.

Im under Winchester hospital and I said I didnt want tests (I did but the notes were hard to read ) and their policy is to tell you if the Nuchal fold is measuring high even if you have said no to tests.

Personally my thoughts of this have changed with each pregnancy as it's not just me and DH to consider esp now with bay no 4 on the way. Im healthy 28 yr old and ended up having a high nuchal measurement and had further test. Everything was fine but we wanted to know 100% if there was a problem so we could think about the implications for our other DC. Still not 100% sure what we would have done if it had been positive but we would have been able to arm ourselves with as much info as poss.