combined test - positive Help!!

[negrilbaby]

Just had call from the hospital. Had a nuchal scan last week and the blood test. The nuchal thickness was 1.4 mm and a nasal bone was visible, but the combined test has come back with a 1 in 60 chance of Downs. I am 43 (yesterday) so I know this puts me at high risk - but how much is age taken into consideration?
Have a meeting at the hospital next Monday to discuss the results but would welcome any advice.
Thanks

I'm afraid I have no experience or knowledge but just bumping for you.

Age does skew the risk in itself. I had a one in 30 with DS, I was 38 at the time.

I had an amnio and the result was negative for Downs. DS is now 4 and a half.

If you look on the antenatal tests and choices and maybe post there too? When I needed advice about the combined test I had, I posted there and they supported me immensely. There are just lovely.

I would recommend ARC too(cant do links but google will bring it up) and on the tests and choices thread there are links to it I think. They can advise you and just listen.

I know how frightening it is and I hope you find some answers soon.

Sorry you are going throught this. A very tough time.

I had a combined result at 1 in 460. I decided to get a private one done also as I wanted a second opinion. It came out at 1 in 1450. So results seem to vary.

I am over 40 also and it does play a part in the statistics although couldn't say how much.

Best of luck - I'm sure all will be fine.

I had my results back today, having intially declined the triple test (this is my 3rd baby and it wasn't around then!) I had blood taken at 20 weeks as my scan showed a small choroid plexus cyst which is a soft marker for downs and edwards syndrome. I wanted to avoid an amnio as we felt that the risks for miscarriage were higher than those given to us for other potential problems. Anyway, she said it came back as low risk 1:230, which having stupidly googled it seems higher than average for my age 34? Not sure about your other results, but I think age must be a big factor looking at how the range jumps massivly, but I did read something about nasal bones not being present in a high % children with downs so seeing one can only be a positive sign? Its really hard when faced with statistics not to worry,I just try and look at it this way, the odds of a horse coming in at 1:60 are always seen as long, and hopefully your consultant can put those stats into a more positive light. I am having another scan in a few weeks and hope to see that the cyst has dissapeared which apparently is a common occurance but again due to my age it is flagged up as a marker! I was told that if I was 31 I would not have been told! I hope everything works out for you and wonder sometimes if too much knowledge is really a good thing? Carol x

At 43 your baseline risk of having a Downs syndrome pregnancy is 1 in 50 (or 1 in 69 depending on what stats you look at!)

This is what they start at before putting the other figures into the software that produces the combined result.

It sounds like your baby's nuchal fold is nice and thin and as others have said, a nasal bone is a good sign. This will be reducing your risk.

Therefore, aside from your age, what is likely to be making your odds higher is the blood test. At 12 weeks, they measure the Beta-HCG levels (basically how much pregnancy hormone you have in your blood) and PAPP-A. A high Beta-HCG and a low PAPP-A can be markers for Down's.

You may want to ask what your exact results were (they will both be quoted in terms of MoM which means "multiples of the mean" - so above 1 is higher than average and below 1 is lower than average).

You will likely be asked at your appointment if you want to go for CVS (though it might be too late for you? Not sure how far along you are) or an amnio. It's a personal choice and no one can force you to have either. You might want to have a think about what you would do if the results were positive - as if you wouldn't terminate for Down's then there is little point in having the diagnostic tests (save for the fact that at least you would know).

As for me, the NT was 1.7mm and I had both high Beta-HCG and low PAPP-A. I am 30 and decided to go for an amnio. Fortunately all was ok and I am now 32+5 with our baby boy. It was really stressful though at the time - the best tip I can give is to post on the "ante-natal results/choices" section of MN as there are some brilliant people there who know a lot about this.

Good luck.

Hi Negrilbaby

I'm sorry you're going through this. I'm 41 and now 37 weeks pregnant; and I went through the same issues earlier on with the combined test. This is my first post so please excuse any mistakes!

You may already know this: but in case not, the combined test uses various factors in combination to yield a risk of trisomy (Downs etc). The basic risk is age-related, for the age in years at term (i.e. not at 12-13 weeks when the test is done). This will be 43 for you, and the associated risk related to age 43 alone is 1:45.

Then the ultrasound and blood tests give additional risk estimates which are combined with the original age risk to give a final figure. Since yours is 1:60 then the tests indicate a (slightly) lower risk for Downs compared to your age alone (1:60 equates to age risk for someone aged 41-42).

Hope this helps a little? This webpage gives more detailed info on the combined test including the tables of age-associated risk: www.wolfson.qmul.ac.uk/epm/screening/calcrisk.html

(By the way I know that presence of the nasal bone is a very good sign against trisomy but I am not sure whether its presence is yet included in the standard calculations of final risk. You may want to check this at your meeting on Monday. If the presence of the nasal bone wasn't included in the calculation then your final "real" risk could actually be lower again. Best to discuss with your genetics counsellor/obstetrician on Monday.)

Very best of luck to you and your little one.

Many thanks for all this. Some reassuring stats and I have a number of things to ask the hospital on Monday. The main thing DH and I have to decide is whether we would actually do anything if we got a positive result froman Amnio. I don't think I could live with having an abortion but I suppose we have a few days of heavy heartfelt discussion.
Thanks again for all the good wishes.

My friend was just 40 when she was pg with her DD. She came out as high risk but paid to have the private test as it's more detailed (her test came back with a much lower risk as her DP is 16 years younger and so they took that into account - apparently it's not just about the woman's age). Your DH may be the same age or older so I guess from this I would just recommend going for a private test if you can. Best of luck

Had meeting at the hospital today. My PAPP-A level was 1.00 MoM but my Free beta-hCG levels were 3.26 MoM.
The mid-wife told me that the test did not take into consideration the sighting of the nasal bone - and that seeing that on the scan was very positive.
Have decided to leave it at that - no further testing - and to see what happens.
Any further comments on blood levels would be appreciated if anyone has anything to add.