Nuchal Scan

[expatinscotland]

Should I not have bothered if we have no intention of having an amnio and/or terminating a pregnancy of a child with Down's Syndrome?

I thought it was for assessing risks of other conditions, too, which are incompatible with life?

Before the sonographer started, she laid into me with questions about it and would I have amnio if it came back as high risk of Down's - didn't mention Edward's or other conditions and blah blah blah.

So I just said we'd think about it if that happened, although inside I was thinking, 'If you think Down's is the worst thing that can happen, you've thankfully never been plagued by the great, big, hairy black dog that's been riding on my back for years, lady!'

I'd like to get an idea of risks, but so we can plan how to work together as a family with our new child.

Ceelo - I did not have a nuchal with dd1 - I do know what it is like to be faced with the prospect that your unborn child will be born with a genetic condition.

At 20 weeks we learnt that our dd1 had a very serious but repairable heart defect. Originally it was misdiagnosed as hypoplastic left heart syndrome. Then after fetal cardiac scans at Harris Birthright Trust we learnt it was a complete Atrial ventricular septal defect.

We were also told that it would be very very rare if dd1 was born without down syndrome. I opted not to have an amnio for a number of personal reasons - one of which is - this was our baby - daughter who would be born and we would deal with whatever came. That is not a decision other people make BUT it was our decision.

Dd1 was born with down syndrome - it was not the end of our world but an introduction to a whole new world. We have since learnt our chance would have been about 1 in 5.

I have since gone on to have two other children - again despite soft markers being found for down syndrome in dd2 - we chose not to have an amnio. With dd3 - we had a nuchal translucency screening but knew whatever showed up - we would not be taking that next step.

'For those of you who say it would not affect your decision perhaps you don't know what it is like to be confronted the prospect of having a child with a genetic disease. I know that even the possibility of a positive test altered my attitude.'

No, I have a child with global delays and learning disorders which could not be detected by any test.

I also had a missed miscarriage.

And I CAN say, unequivocally, that I will NOT be having an amnio for any reason.

It carries a miscarriage risk.

And I don't live my life like that.

That's our decision.

I was blase about tests and terminations before I nearly lost my first son.

We only had scans to see the baby and when we were presented with a potential problem we said fine and refused all further tests. We didn't know until he was born whether there would be anything wrong.

I think what I was getting at was that there are condition other than Downs that are fatal. I often feel attacked on these threads (I know that is not really the case, I am being irrational) because after finding out the strong likelyhood that my ds had Trisomy 13 I went ahead and had an amnio. I would have been so grateful if there had been any chance of my baby surviving at all, whatever level of disability we might have faced but that was not the case.

sorry about the spelling, I am having real trouble today.

constancereader - were you told your child wouldn't survive if born to term?

Ceelo- people do go ahead with pregnancy with those odds and not have invasive testing. DS2 and ds3 had a higher than 1 in 28 risk of the same condition their brother has (which has been more disabling for him than the majority of cases of DS- although both conditions are spectrums so there will be overlap). Therefore we felt there really wasn't any point terminating for DS as we could have gone on to have another child with DS1's condition who might have been more affected than the child we had terminated.

I think trisomy 13/18 would have been a far tricker decision for us, because as said usually the baby dies in utero or within the first year. We did say beforehand that we wouldn't have had further tests if screening had revealed a risk of those because some children do survive for a few months/years. Although that was our decision and of course would have been very difficult. And I was pleased of course not to end up in that position. We did decide before hand that we would terminate for anencephaly and therefore we had nuchal with ds2 and the triple test with ds3 - mainly to pick up that (which both do very well). .

Everyone makes their own decisions. But from what expat said in her OP having the screen was a good idea (from the preparation point of view) but perhaps the emphasis on DS from the sonographer was not all that relevant to her. That wasn't why she was there.

trisomy13/18 are usually described as fatal conditions because something like 99% of children die within the first year (usually within a few weeks of birth, if they survive birth). Both are very serious conditions. I think most (all?) of the children who survive for a few years plus have the condition as a mosaic (i.e. not every cell in the body is affected). Both are very disabling conditions. I don't think anyone would ever judge someone for terminating trisomy 13 or 18 - even if they wouldn't make the same decision (people decide to carry on with pregnancies for all sorts of reasons). I don't think this sort of thread should make anyone who has been through something so horrific feel guilty.

Our son was thought to have trisomy 13 and we decided to continue with the pregnancy. It is more common in girls and not all children with it will die in the womb or at a very young age. For us, we were giving him a chance.

I am not trying to make anyone feel guilty, if you were meaning me yurt1, but I would be interested where you get the 99% figures from.

No, no NotABanana - not meaning you at all- I was worried that my earlier posts might have made someone feel guilty!

The 99% figure was a bit plucked out of thin air - although I did research it a while ago and it was 90 something %. When pregnant with ds1 I thought it always meant that the baby would die on delivery (if not before) and we would have terminated. I then came across a lovely website of a little boy who had Trisomy 13 and lived for 8 weeks and it changed my mind (and of course in the same time ds1 was found to be severely disabled etc etc which resulted in our opinions changing a lot).

But I didn't want people who made a different decision to feel like I was lecturing them iyswim. It wasn't your posts at all- when we discussed it before screening tests with ds3 - we had the same opinions as you.

expat I agree with your op.

The nuchal scan is not offered on the NHS round here so I would have had to pay £180 to get one done privately. TBH we just could not afford that kind of money.

I had my 16wk appt last week and declined the triple test on the basis that if I was high risk it would be assumed that I would then go on to have invasive diagnostic tests. After long discussions with DH we decided that if we were told anything was wrong we could not terminate.

We have decided that what will be, will be and we will deal with anything that comes our way.

Thank you yurt1.

Thanks Yurt - I do realise that nobody was trying to make me feel guilty, it is just that I do find myself lurking on these threads a lot and feeling very defensive about my choices. I know that I am being kind of irrational.