Nuchal fold and blood test

[Galian]

Have just had my 12 week scan and combined nuchal scan and blood test. My age of 37 gives me a 1:242 chance of having a child with Downs Syndrome. Social and health factors raise it to 1:117 and then with the blood and nuchal scan result, I have a 1:2 risk of a child with Downs Syndrome. (trisomy 21). Given that this is not a clinically definitive test, the odds don't get any closer to a positive or negative. That is the computer cannot give a 1:1 for litigation purposes!. I already have one child with Downs Syndrome who I had at 32 with a 1:1000 chance. Only an amnio or CVS can give me the definitive aswer that I crave, but am terrified by the risk of miscarriage.Any others perspective out there on these stats??!!

I was given a 1 in 4 chance of having a child with downs with my second pg, for the first, the thicker nuchal fold was not spotted until later in pg so I wasnt given any odds but told it was likely. We had decided we would continue with the pg whatever the result so I had an amnio with my 2nd pg so that we would be informed and ready. I was offered ( and greatly encouraged) to have a CVS but as the miscarrige risk was high we went for an amnio. The result was clear and both boys were born without any chromosonal oddities!! It was a hard time, but I think you just need to make your decision and stick to it, without being swayed by others. Their are other 'signals' that can be picked up in later scans, thye used this with ds1 to say they were ' reasonably ' sure he was ok, but as you say only the tests give a def answer.
Sorry this is a bit long winded, but |I hope you get a clearer picture soon

Galian, what a tough time. Those aren't great odds are they. Do you want to have an amnio/cvs just for information purposes so you are prepared or would you act on a positive result? If the former, I think I echo missmap's thoughts that there are other markers they can look at to give you an informed opinion (nasal bone, tricuspid flow, ductus venosus flow and heart problems). If you think you may not continue with the pregnancy, then maybe have the tests?
Many hospitals are now offering the same odds for risk of miscarriage with amnio or CVS (it used to be more risk for CVS) .
Did you have any genetic tests for you or your partner after your first baby? In rare cases, downs can have a genetic factor that would make it much more likely that this baby has it too.
Do you have a gut feeling about what you want to do? And how does your partner about it all?
I really do sympathise with you. There is so much to consider. Keep us posted, do ask any other questions you might have, everyone seems so good at responding to things like this.
xxx

My initial and gut feelings are that I will have this baby no matter what, so hence the risk of miscarriage is a real fear. I guess I am just wondering how to manage my head space between now and the birth, which, if I decide NOT to go for amnio or CVS is the only other definitive way to find out if my baby has Downs Syndrome or not. There isn't any genetic reason for this for myself or my partner, its just odds. I have made a note of the markers that you have posted in your message (linspins) and will take those along to the consultant as they look like thay can build a rounder picture for me between now and birth. Thank you for the responses.

Hi Galian, I have a son with a chromosome abnormality, and we are considering another child. Whilst I think/hope that we would continue with another pregnancy no matter what I have a real need to know issue.

Is an amnio later on in the pregnancy later an option if you really feel that you need to know the full picture. Is it any safer later?

As Lins said there are many other things that they can scan for to give a clearer picture, particularly regarding the heart.

I hope you are feeling okay today.

Galian, just a quickie. I don't know where you are in the country, but Kings hospital in London can give really clear picture of the things I mentioned and I think that would give you your answer. They also sometimes measure facial angle, which can be another indicator. There are other 'centres of excellence' which could give you very clear scans, probably in a few weeks tome when your little one is slightly bigger.
Sounds like the risk of miscarriage rules out amnio/cvs for you, because you're happy to carry on whatever.

Have you been given details of ARC? (Antenatal results and choices). Lots of parents contact them when going through this difficult time of testing etc and they are a charity specifically to support you through this. They are a mine of information. Often people thing they are only there for parents who choose termination but they will support you in carrying on a pregnancy too.
Obviously you know lots about downs having already got one precious child with it.
Wishing you all the very best, keep us updated. xxxx

Echo the detailed scan route. The consultants can see an awful lot.

If they can't see an awful lot, of significance, then that in it's self is information. That the baby has mild physical traits i.e. no cardiac abnormalities. The consultants can comment to what extent this may be reflected in the other Down't traits.
That would be more information for you to get you through the pregnancy.

I doubt they would simply do the anatomy scan then leave you without further imput. I feel they would wish to rescan to give you and them more information about what to expect - if it was your choice to have further scans.

I type this on the information you give that you feel you would not terminate regardless of the genetic outcome.

So a long winded echo of Riven's post then

Listen good luck, I hope whatever way the road goes you have an enjoyable and healthy pregnancy and find peace of mind.

Hello everybody, just a very quick mail as I really need advice. I am 40 years old with two healthy DC and 14 weeks pregnant with my third, having had an earlish mc in March.

I got my results yesterday of my triple blood test and combined results and quite frankly I'm none the wiser!

12 week scan: 1/344 (scan was done 2 wks ago)
Triple blood test: 1/189
Combined tests result: 1/1043

I have to make a decision today re: amnio. What the Dickens am I supposed to surmise? I really need to know which test result is the most reliable: the blood test or the combined? And why is the combined so good when the blood test is 'high risk'?

Help!!!!

Hello jardins. I am 39 and 8 weeks pregnant.
I had a miscarriage in December last year due to trisomy 21.

Were your miscarriages due to chromosome anomalies?

triple blood test on its own is actually terribly inaccurate and seems to cause more concern than it alleviates. Approx 65 - 70% of pregnancies where the baby has down syndrome is detected by the triple test whereas it can be up to 90% from the nuchal translucency screening - combined test - blood and ultrasound.

jardins -- anecdotally, virtually everyone I know over 37 or so gets a "high risk" result from the triple test alone, presumably because it is so heavily weighted on age. Your combined test results are fantastic for a 40yo so in your position I'd be very happy.