My sister's triple test result has given her 1:29 odds of problems

[duchesse]

Apparently the nuchal fold scan looked fine, but she's being advised to have an amnio to be sure. The hospital she's under says the test can throw up lots of false positives. Advice?

bump

It's a hard choice for your sister, most people I know would opt for the amnio to have certainty. But can your sister live with the risks of amnio? Is there chance that she couldn't consider termination, in which case maybe the amnio wouldn't be worth the risks?

How old is your sister? I think the blood test is more accurate the older the mother is (so under 30, I would trust the nuchal fold more than the bloods, and over 35 I'd think the bloods were quite meaningful, but nuchal fold still important, too).

But I'm not an expert, just someone who has considered the same issues!!

She is 39, 40 in September.

But the risk of miscarriage are very low. The national average is about 1% (I think) and a Professor in genetics who did mine said that the risk is lower if it's in a genetic unit where they specialize.

Sorry bit confused.

Did she have the combined nuchal and bloods test (oscar) at 12 weeks and then go on to have the triple test at 16 weeks.

I've had the combined nuchal at 12 wks with all 3 of my pregnancies and then never had the triple test at 16 weeks as was told it wasn't as accurate.

Fair point, lenin

I can tell you my sister's triple test had the likelihood of having a child with downs at 1 in 4. She opted to have no further tests and had a healthy boy without downs five months later. My own test came back with odds of 1 in 2500 and although my son is healthy and no downs he has moderate autism and will need care for the rest of his life. So for me the tests really tell you nothing, you can have short odds and still have a healthy baby likewise you can have incredibly good odds and still have a child with a significant disability. If your sister felt that she couldn't cope with a child with extra needs then I would suggest an amnio if she wouldn't consider a termination then I would advise leaving well alone and trying to enjoy the rest of her pregnancy. I wish her well

I can tell you my sister's triple test had the likelihood of having a child with downs at 1 in 4. She opted to have no further tests and had a healthy boy without downs five months later. My own test came back with odds of 1 in 2500 and although my son is healthy and no downs he has moderate autism and will need care for the rest of his life. So for me the tests really tell you nothing, you can have short odds and still have a healthy baby likewise you can have incredibly good odds and still have a child with a significant disability. If your sister felt that she couldn't cope with a child with extra needs then I would suggest an amnio if she wouldn't consider a termination then I would advise leaving well alone and trying to enjoy the rest of her pregnancy. I wish her well

Don't forget that while 1:29 of problems, this also means 28:29 of everything fine. That's the way I looked at it with 1:25 and everything was fine.
HTH

Duchesse - I had a 1 in 29 risk with DD (Now 3) and a 1 in 7 risk with DS3 (now nearly 2). My result was down to a very low PAPP-A reading in my blood but the nuchal fold gave an excellent reading on its own. Perhaps your sister is simialr.

I had CVS with both pregnancies performed at the Fetal Med Centre in Harley Street. CVS was performed by Nicoliades himself and was brilliantly fast, painless and uncomplicated.

Nuchal and blood tests with last pg gave a 1 in 5 result.
Went on to have a CVS and results were negative.

Hope your sister is ok.

I am surprised the hospital are pushing for an amnio. I would be questioning that tbh.

I would think your sister needs to look at this backawards. What will she do with the info if it transpires that the baby does have SN? If she would have the baby anyway I would do nothing. If she would terminate then she needs to decide if she feels she can risk miscarrying a healthy baby if she has the amnio. The statistics mean nothing if your baby is that 1 in 100/200 that doesn't survive the amnio.

Voltaire- I shall ask her. She was a bit upset when she rang earlier. I did point out that there was a 28:29 chance of there being no problem (or at least not the problem they're screening for) but understandably that's not the way she's thinking at the moment. I shall ask her about figures. She's due in October, I'm not too sure about dates as she tends to go to 44 weeks so is being cagey about that. She had her test in Paris, I think the American hospital, who you'd expect to be well on top of testing. I think she must be about 16 weeks now, as she said she was having the amnio at 18 weeks in a couple of weeks' time. I mentioned CVS to her but I don't that was given to her as an option.

I'm not surprised the hospital were pushing for amnio. My last pregnancy was pre-nuchal tests, so any risks were estimated on my age, but even so they were pushing for an amnio merely based on my age (36). I pointed out that according to the figures that were then available, the risk for miscarriage was actually slightly higher than the risk for Downs for a woman my age. They looked taken aback.

But of course, we were coming from totally different positions. Their assumption was that my greatest fear would be having a disabled child, and that I would be happy to risk a miscarriage to guard against that. My greatest fear was actually losing the baby, so I was ok with risking the disability. (In the end ds was born with a totally different disability that is not testable)

Agree with Bakergirl, your sister will have to sit down and think about where she is actually coming from on this one, regardless of what other people think.

I'm pregnant as well, 3 months ahead of her, and everyone, including most insistently my sister, asked me if I would have an amnio due to my age (41). I pointed out that the odds of losing the baby in an amnio-caused miscarriage (1:100) were 5 times my test-correlated risk of problems (1:518), so I decided not to have it. My sister was taken aback about at the time (she lives in a very medicalised society). I suspect she would have had an amnio even at 1:500 odds though.

Hi,

If your sister is 16 weeks [i think I read] then it is more usual to do a amnio.

My 1st advice [fwiw] is to maybe put the hospital advice on a shelf for now - if they are 'pushing' for one thing or another. It is not their role to do so, merely to present options and advice about the best road for your sisters chosen management, if that makes sense.
I'd suggest your sis look into the syndrome I assume she has been given the risk for, which is Down's.
Then have a good hard think and discussion as to how they feel about the possibility of this child having the syndrome, how they feel about the idea of termination for this syndrome, how they would cope with a child with the syndrome and how they would cope with termination. Then there is the risk of possible loss related to the procedure.

If that is too much for them, then a good basic question to ask is 'do we need to know?' It almost covers all the scenarios.

It's sometimes helpfull to compare the 'refined' risk to the basic age related risk too. It can change the perspective of the result sometimes, to more/less positive.

Best of luck to her at this tricky time. I hope she can come to a solution that feels right for her and her family.

OP has never said that the hospital are "pushing" for an amnio, just that they are advising it so that OP's sister can have certainty.

At age 39 I would imagine that the risk factor (1:29) is pretty accurate. Ideally the hospital would have done an integrated test adjusting for the good nuchal fold, but doesn't sound like they did.

Maybe the hospital are 'advising' a amnio because that fits with what duchesse's sister has said she would prefer (both to have certainty and maybe even to have the option of TOP).

From what duchesse said about her sis probably wanting amnio even if the odds were 1:500, then sounds like an amnio might well be right option for her.