Please could someone (ideally medical, but I'll take all comers) reassure me about Down's result?

[RainyWednesday]

Hi all

I'm just looking for some advice/reassurance about my Down's screening results. Overall, it is 1:664, which isn't too bad considering my age (31, 32 by the time I'm a mummy!), although I would feel happier if it was in the tens of thousands, like most people I have spoken to have been

However, I had the combined test (ie scan + bloods) and while the scan was reassuring (1:2500-odd), the blood test result seemed worryingly high: 1:124 (eep!).

I KNOW that it's the overall result that should count and I know that if it had just come back as "low risk" rather than telling me the figures, I would probably be fine. As it is, I am hormonal and bricking it and have already had a good hysterical cry over my husband. I have also read somewhere that the blood test is more accurate than the scan but have no idea whether this is true or I've misunderstood (ie whether it means just a blood test is more accurate than just a scan).

I did do the sensible thing and bring it up at my 16 week midwife appointment yesterday. The MW told me that if there had been any cause for concern then I would have been advised to have CVS/amnio. She then read my notes and mentioned the fact that it says there that CVS/amnio was discussed with me and I refused it: in my memory, her tone has now become suffused with surprise and alarm, suggesting I should have had further tests. In fact what happened was that the sonographer pointed out that the risk of MC from having further tests was higher than the risk of having a child with Down's and I agreed: this was then noted down as having discussed further testing with me and me refusing.

I apologise for the length of this post, but would be very grateful for any advice/reassurance!

RW x

[MrsTittleMouse]

Would it help to know that your chances of Down's are 0.15%? Or rather the chances that your baby doesn't have Downs are 99.85%?

To be honest, I think that any result that isn't "your baby is absolutely fine, no question" is going to be a bit worrying, especially as your hormones are going haywire. We didn't completely relax until DD was born, but she was fine.

[ScarletA]

From what I remember of my two pgs, first was similiar to yours, 1:1600 and second 1:950 (had at 36). I worried (briefly) and then forgot about it. No Downs in either kid.

Friend had 1:61 and her child didn't have Downs either.

Agree with riven, don't worry.

[MrsTittleMouse]

It isn't clear from your post, have you changed your mind about having amnio? I would get back in touch with your MW if that's the case. If you want it then the sooner, the better, as it often takes a while to get the results, and the sooner you can stop worrying, the better.
I'm at your age comment, by the way, I'm a lot older than you and expecting DB2.

[cmotdibbler]

You can get very good info about the tests at ARC

The combination of the tests is the most accurate marker of the non invasive tests, and invasive testing could have a mc rate of up to 1 in 20 (it depends very strongly on the person doing it). So it would depend on how concerned you were about having a child with Downs (which is in no way the end of the world), as to whether you would consider doing anything further.

[marina]

What MrsTittleMouse said - the odds are still very much in favour of your baby not having Downs Syndrome
I only had nuchal with the check for the nasal bone that is often done these days. So can't advise on why the blood result gave comparatively short odds.

[MrsTittleMouse]

I agree with cmotdibbler by the way, about amnio. Even with a good technician, the odds are higher that you'd miscarry a healthy child, than you'd find out that you're carrying a Downs child.
It's not an easy decision either way, and you do have my sympathy. I'll be getting my triple test results soon, and I know that I'll find it difficult too.

[McDreamy]

Hi rainy! We were in a similar situation when I was pregnant with DS. I am and nurse and DH is a doctor and this is what we decided to do.

Risk came back as 1:179 which was considered high risk with 1:180 being the cut off. I freaked DH didn't. He said that although it meant we had a 1 in 179 chance of baby being born with down syndrome we had 178 chance that baby might not. It didn't reassure me.

We decided that we didn't want the amnio offered as the risk of miscarrying was higher than we were prepared to risk and if the result was positive we wouldn't have done anything - we just wanted information to prepare ourselves.

In the end we had a private scan, the next day, where they looked at baby's nuchal fold and nasal bone. They also repeated the triple test but included a 4th marker. All the tests came back within 'normal' limits and DS was born and was fine. I was hugely reassured.

We are currently trying for a 3rd baby and I'm not sure I will have the triple test again!

[mummydoc]

rainywednesday what would you do if you knew the baby had downs ? if you know without doubt that you would continue the pregnancy then stop fretting and enjoy the rest of oyur pregnancy, if you know without doubt you would terminate then you should have an amnio asap, if as i guess you are not sure then you could do :

1. nothing and cross fingers
   
2. ask for an appt with your consultant and discuss it futher - he maybe able to reassure you
   
3. go for a private 4 d scan which by now could well pick up downs features quite clearly ( BTW a friend of mine did this when given a 1:24 risk)
   
   good luck with whatever you choose.

[Notquitegrownup]

I have heard so many reports of the triple test giving misleading figures - it makes me so cross. I was 41 when carrying ds2 and was very pleased to be able to have a nuchal to get a more accurate indication of what we were preparing for - they weren't available when we had ds1. We had a result of 1:50 which is considered high, but also saw the nasal bone, which gave us more information.

You have to remember that even with a figure of 1:10,000 you still have a chance of having a child with Downs. These tests can only give you information with which to prepare yourself. If you need a definite answer you need to consider amnio or CVS, although also need to weigh up the risks with them.

In my experience the midwives were all very ready to encourage us to have an amnio/CVS and expected us to want them, through both pregnancies. I remember that tone of voice too - despite the fact that we made it clear we were not prepared to take the risk involved. Don't worry about her tone of voice and expectations. Think about what you want for yourselves.

As we were relatively high risk, I also did a lot of reading at the time about life with a child with Downs, and found I became a lot less afraid of what was, for us, a fairly unknown situation.

Hope that helps a bit.

[josta]

Brilliant advice from wulfricsmummy, I really liked the way you broke everything down.

I had the nt scan/blood test with my last pregnancy at 12w 3d, I was 38. The scan part was brilliant, the nf measurement was 1.4 and the nasal bone was seen. We were so relieved, but then she came in with the blood test and integrated them with the scan results. It came out at 1 : 350. Not bad really but like you I wanted that 1 in a thousand and odd risk. It was the papp.a that was very low hence raising the risk.

Anyway long story short, tortured myself through the pregnancy worrying silly over this papp.a result, until I gave birth to a healthy little boy.

Maybe if someone explained your results to you rather than just give you numbers it might help.

Hope you are feeling a little more reassured.

[Pucci]

Hello Rainy Wednesday

I do understand how do you feel. Personally I?d get a combination scan (Nuchal scan + papp.a) at the Foetal Medicine Centre in London, they are the best, you?ll get the result back within the hour and the doctor will then explain the results to you in great details and you'll have time to ask any question, you?ll be very well looked after, I went there myself. Good luck, please keep us posted. x Pucci

[aiti72]

Brilliant answer, wulfricsmummy! Personally, I cannot really comment as I had the 1 in 2 risk in this pregnancy and obviously find a mum with 1 in 664 worrying about the high risk quite annoying. At 35 my natural age related risk was 1 in 250, so at 32 the natural risk cannot be in "tens of thousands".

[whatme]

Hi,
I had a similar result (age 39) with a long history of failed pregnancies, to cut a very long story short, I then had a detailed scan carried out by an very experienced consultant, apparantly they can look for markers that can indicate Downs, I did end up having an amino, as a cleft lip and palate was detected, which raised other concerns, despite all of this dd was a very healthy baby without downs. The thing to really consider is how much the diagnosis means to you both, if you would continue with the pregnancy either way, don't put yourself through the stress of more tests.
Looking back I wish I had not had any of the tests as all it did was cause huge amounts of stress and sleepless nights, but I remember such a big thing being made of 'because of your age' that I felt I should have them. Good luck

[Pucci]

Hello Rainy Wednesday

I do understand how do you feel. Personally I?d get a combination scan (Nuchal scan + blood test) at the Foetal Medicine Centre in London, they are the best, you?ll get the results back within the hour and the doctor will then explain the results to you in great details, you?ll be very well looked after, I went there myself. Good luck and please keep us posted. x

[Peachy]

My risk was pretty much the same as yours- by bloods alone. That was with ds3, i was 29.

he doens't have Downs.

I decided not to have the Amnio, and that was right for me I think but is a very personal decision. I did worry somewhat throughout the rpegnancy though, it was always there niggling.

DS3 does have ASD- just cannot be tested for. he is also the mosta dorable little thing that I could possibly imagine, and as such haven't had any tests bar scans with this baby (am 40+5 now with ds4)

[RainyWednesday]

Thank you for all the replies - they are appreciated

And apologies for any offence caused - I know that worse things happen etc.

I am not really too worried about the 1:664, although, as I said, I would be happier if it was higher (or lower - lower risk anyway). It's the 1:124 that is bothering me, even if, rationally, I know (or think?) that it's superseded by the 1:664 figure. I think what I want is to be told that the 1:664 makes the 1:124 completely irrelevant.

I'm not considering having further invasive tests because I don't think I could cope with a miscarriage now at this stage or the feeling that I had been responsible for it. I've looked into further scans but can't really afford a private one.

I'm just hormonal and scared and PG for the first time and want to be told it'll be okay

[Peachy]

I can't see why you would have offended anyone on here?

This is one of thsoe situations where only you can know what would work for you- getting as many opinions and experiences is a very valid part of that and you are wise to do so, but ultimately only you (and your dp) can make such choices.

Good luck with the pregnancy

[RainyWednesday]

Cheers

I'm worried that I may have caused offence by the suggestion that I don't want a child with Down's or because 1:664 is "low risk" (specifically the person who said that I was annoying for worrying about this). It's actually the 1:124 I'm worried about.

Should have just got a dog ...

[RainyWednesday]

Christ, I've just read the high nuchal fold result a few threads down, and now I feel ashamed

[NotABanana]

What are you scared about?