Whether to test for DS - advice much appreciated!

[nightandthelight]

So I live in a part of Wales that doesn't offer nt. Therefore the only tests for DS is the blood test at 16 weeks. I just assumed that I would have this but the mw suggested I really think about it as if high risk I wouldn't choose to have amnio or abort.

I do want to be prepared for my baby having DS but would having the blood test and getting high risk but not confirming just lead to a stressful pregnancy?

Anyone else had experience of this, happy to tell me what they did?

Thank you :)

Not really the same but baby was not cooperating at 12 weeks scan so I had the quad test at 15 weeks I think. Is this what you have offered? For us we were happy to have any non invasive testing done as we would rather be prepared if anything were to be wrong. We said we wouldn't abort but would of wanted support for anything that they did fine. Unborn ds has been found to have a problem however not a genetic one that was picked up at our 20 week scan. I think a lot of conditions can show up on a scan if you choose not to have blood work done

Thanks Claire I am sorry to hear that a problem has been found :( it is the quadruple test I have been offered. The mw just looked so confused as to why we would want it if it would make no difference to what we would do. I have also been told that the support in pregnancy is rubbish so am worried I would be stressed out for the second half of pregnancy without adequate support. But I know that a low risk result would reassure me!

Does the blood test also look for Edwards and Patau? if so I would have it as those are incompatible with life. (I think in most cases there are signs on the 12 week scan if these are present, but not always, sometimes it only shows up at 20 week scan).

Also, if you get a high risk result, you could consider the Harmony/NIPT test to confirm - it's private so depends on your funds - but it's non invasive and no risk to baby, unlike an amnio.

Even if midwife support is rubbish there are many other options for support. I have found a couple of great Facebook groups about my little boys condition and I think there are many charities that will offer support. Do remember however that genetic conditions are still rare. Personally I found my low risk of downs etc to be reassuring

I think there are some benefits for doing screening test even if you know you would not do amnio/termination in any case. If you were high risk, you should be referred to specialist scans with fetal medicine specialists, e.g. to check baby's heart (this is one of the most common abnormalities associated with Down syndrome), so the care plan can be prepared for before/after birth. Also, as mentioned above, you could get non-invasive DNA test, although that is not cheap.
However, as you say it also may increase your anxiety. But not having testing may also increase the anxiety. It really difficult to say... Does your hospital have screening midwife you can talk to, and go through the options?

Thanks so much for the input ladies :)

mini it is only downs, if it were the others I would definitely go for it! The harmony is definitely an option although would be a dent in our finances. Would be considered if we came out as high risk though.

You are very right Claire that a low risk result would be very reassuring and considering that I am in my twenties that is presumably the most likely outcome :)

I had not thought of that daluze, would I still be offered that without a definite diagnosis though? My mw did suggest I go along to talk to the screening mw in their open clinic on a Friday afternoon so I think that I will do that :)

I think they should do that. I had a high risk (1:7) result with my first DS, and although CVS excluded chromosomal abnormalities, I still was under care of Fetal Medicine Unit, and had an extra cardiac scan and a specialist 20 week scan. Something you can discuss with screening midwife, I suggest.

I'm not sure if this helps but I had to have the quad test for a different reason and I did a lot of research on it before.

It's actually not very accurate and if you are under 25 I think the accuracy is only 66%. Over 25 the accuracy is 75% I think. Anyway I also found that out of every 20 women who have a high risk quad, only 1 of those babies will have Down's syndrome.

Obviously most of the time it will be accurate but in a lot of cases it isn't. If you want the quad to prepare then I'm not sure it will help.

Best of luck!

Just to point out that trisomy 18 and 13 are NOT incompatible with life. There are plenty of living people who have these conditions. These are life limiting conditions associated with profound disability but far from universally lethal.

Personally I would likely test for Down syndrome to minimise the risk of stillbirth by closer monitoring if they had it. I would want to give them every chance.

If you wouldn't have the amnio or terminate I'd say don't have them. I thought I would never have an amnio but we had the tests and our results aren't positive and we are now faced with the decision as to weather to have an amnio, which I think we are. All the tests have done are make us question and doubt and worry.

I didn't have any tests for either of my 2.

My midwife knew of women who had the test and got worrying results, only to deliver perfectly healthy babies. Likewise, she knew of women who got good results, but went on to have babies with serious medical conditions.

IMHO they are tests for people who may consider termination on medical grounds. Personally, I wouldn't, so didn't bother to have them.

I'm actually quite surprised that they are offered as a matter of course and that those who opt out are in the minority.

Good luck, regardless of what you decide and congratulations on your pregnancy!