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Pregnancy

Talk about every stage of pregnancy, from early symptoms to preparing for birth.

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Original poster

1:255 chance of Down's syndrome

13 replies

BigBongTheory · 28/06/2013 22:26

It's not enough to be classed high risk (1:150) but it's higher than my age risk. I think because of the nuchal translucency measurement (2.6mm).

It's officially low risk but worrying me. My other two were in the z1000s.

Honestly, would those odds concern you?

OP posts:

missmapp · 28/06/2013 22:32

No, we had a 1 in 32 risk with d s 1 and had no other testing and a 1 in 4 risk for D s 2. Both were down to thick folds, neither have downs but both d s 2 does have a genetic disorder.

We decided we would keep going with the pregnancy whatever, so I suppose that is what made it easier.

Low risk is still a risk, but is low!

WhereMyMilk · 28/06/2013 22:44

They would worry me, but then I am a worrier, and would (& did) go for further testing, simply so that I knew what I was facing IYKWIM. We were also immigrating so knowing either way was helpful. All was well though. False positive for DD.

Good luck, will not say don't worry as that is too hard!x

WhereMyMilk · 28/06/2013 22:45

Also, remember that 1:1000000 would still be a risk. You might be that one...

evelynj · 28/06/2013 23:00

I'm a worrier too & due on 2 weeks but no DS test this time so I'm feeling that my odds are very high as I have nothing to go on.

I think those odds are fine. You do need to consider how you'd feel, you could go for the amnio but always remember (as I have to keep reminding myself), that even if everything is fine, at any stage your child(ren) could develop an illness or something that you just cannot prepare for. My point being like that line from desdirata, 'do not distress yourself with dark imaginings'. Either try to keep optimistic or decide on the amnio to pit your mind at rest.

Either way there will be something else to worry about when this is dealt with.

Good luck!

rowtunda · 29/06/2013 07:39

Okfirstly when you think about it a 1 in 250 risk is 0.004% risk so when you think about it that way it is not so scary. also the risk of miscarriage with amino and cvs are much higher than your odds - 1 in 100 and 50 respectively. so would you risk further testing based on your odds?

I had 1:87 risk for Edwards syndrome which got me worried but i was more worried about the 1:50 miscarriage risk of CVS that was quoted at the hospital. In the end I went for a private bloods and scan at the fetal medicine centre (not sure if your near London but I completely recommend it) where the practitioners miscarriage rate is much lower 1:500. They also look at additional soft markers - by doing that they gave me a revised risk of 1:147 and advised against the CVS based on what they saw (my risks were to do with blood results).

Have a think about it but I think 1:250 is not that high a risk to go forward with - just think 0.004%

Pentagon · 29/06/2013 08:37

Hi big I don't mean to scare you but want to give you a different perspective - my SIL had a 1:250 risk in her second pregnancy, she didn't know her exact result (she never received the letter herself, her midwife just told her it was low-risk and she was too busy with work and other personal matters to inquire further or look into it). Her baby had DS and she only found out after giving birth - it was a big shock for her and everyone in the family and she's still upset and feels guilty for having overlooked the matter (she had DS screening at a private clinic in her first pregnancy and wishes she had done the same for the second one). She may have carried on with the pregnancy anyway but at least she would have been prepared.

My DH has been so upset by what happened that he wanted me to have an amnio in this pregnancy (2nd one) irrespective of the screening test result as he doesn't trust the test anymore (I have more faith in it but shaken by what's happened). I was reluctant to have CVS or amnio just to be on the safe side and luckily came across the Harmony test which I had done at the Fetal Medicine Centre when I was 10 weeks (there is a couple of threads on it under antenatal screening here on Mumsnet). I paid £180 which was part of a special offer but I suspect you are 13-14 weeks now so if you went for it, it would cost you £400. But as rowtunda said you can just have a more detailed scan there which costs £200 if I'm not mistaken. I highly recommend the clinic, aside the harmony test I had 2 scans there which were very detailed and everything was explained to me.

Admittedly, the combined test gives more false positives than the other way round, I know people who've had higher risk results than my SIL and their baby is fine. At the same time I know of people who had results in the thousands and had a baby with DS (very rarely though). The problem is that the combined test isn't very reliable which is why I opted for the Harmony test and private screening this time. Which I wouldn't have done, had this not happened to my SIL (which admittedly is again, very rare - everything that could have gone wrong, went wrong)

In all probability your baby is fine but you may want to consider having a private scan (or going for the harmony test - but your result isn't that bad so probably a private, more detailed scan would be sufficient I think) just for your piece of mind. Good luck! (and again apologies if I have scared you, I'm just a believer in "better safe than sorry")

Original poster

BigBongTheory · 29/06/2013 10:22

Thanks for your thoughts all.

I've spoken to a local dr who does the Harmony test who agreed the nuchal fold is the concern. She said that personally she'd go for a more invasive test rather than wait the two weeks it takes to get Harmony results. I'm not sure I'm ready to do that and I've booked for a more detailed scan in London today.

I'm going to try the Fetal Medical Centre on Monday depending on the results. the dr I spoke to also recommended the dr there but he only works on Wednesdays and might not be able to do short notice etc.

OP posts:

missmapp · 29/06/2013 12:47

Just to add extra info, ds1 had a nuchal fold of 4.1 mm and ds2 of 4.9 mm, so it can be worse ! ( neither have downs)

Get all the info you can and make the decision that is right for you, that is all you can do.

Good Luck

ShowOfHands · 29/06/2013 12:55

My risk with dd was in the thousands, with ds a few years later (though I was still youngish) was 1/156, which as you say is still low risk. I didn't worry at all. I knew my risk was higher because of a borderline high nuchal fold. I also knew that they'd struggled with ds's position, he was lying curled up and they'd had to take the measurement several times and gone with a best guess. Everything else was fine, they'd scanned very thoroughly and found no markers. Later at the 20wk scan they scanned thoroughly again at my request.

Original poster

BigBongTheory · 29/06/2013 13:26

Thanks again.

I've just left the clinic and the Dr checked the nuchal translucenycy measurement several times and it was consistently 1.7mm.

That combined with the presence of the nasal bone adjusted my risk to 1:5000 so I'm feeling a bit happier with those odds!

I was expecting everyone to tell me not to worry but I'm glad you ddnt all and I've been able to put my mind at rest.

It took every ounce of strength not to find out the sex when she said she knew though!

OP posts:

missmapp · 29/06/2013 13:43

Gd news Bigbong

I know what you mean about wanted to know to sex!! I had many many scans with ds2 and was sooooooooooooooooooooo tempeted, many times! well done for resisting.

rowtunda · 29/06/2013 19:32

Great news enjoy the rest of your pregnancy x

Pentagon · 29/06/2013 20:03

big that's wonderful news, you must be so relieved Now you can enjoy the rest of your pregnancy! x

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