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1 in 7 result after nuchal fold and blood test - am really worried

44 replies

Stewierocks · 16/05/2015 08:31

Hi,

We went for our 12 weeks scan yesterday. I'm 42 and have one daughter and have had one miscarriage so I'd already worked myself up to think things weren't going to be OK. Was so relieved when we saw the baby jumping about and seemingly healthy. But then after waiting for an hour, they brought us back in to say the combined nuchal fold and blood test showed a 1 in 7 chance of Downs Syndrome. So I then had the amniocentesis- results mid next week. Although they weren't sure if they got enough of the placenta so might have to repeat it - they'll let me know on Monday. I am so so worried and freaking out - just wondered if others had had this experience and any advice. I know what will be will be, and we've already talked and agreed what we will do if the outcome is positive. But I've wanted another baby for ages and for all sorts of reasons it's been really hard so am so gutted about this. :( Thanks

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Are your children’s vaccines up to date?
Springtimemama · 19/05/2015 16:39

This reply has been deleted

Message withdrawn at poster's request.

Stewierocks · 19/05/2015 17:35

No - will give it another couple of days and then try. Im sure they'll be in touch when they have the results. Just horrible waiting. ..

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Skiptonlass · 19/05/2015 17:44

Stewie - hope all is going well for you.

Can I just pop on here to say your bmi is NOT a risk factor for downs? They take your bmi into account because they use it to calibrate the blood result, but in itself it is NOT a risk factor. Please do not beat yourself up about having a bmi of 31, it has no influence on the outcome.

Waiting is terrible. I have my fingers crossed for you!

KittyandTeal · 19/05/2015 21:11

Oh gosh, no. I can back up skipton. As someone who has had a baby with a trisomy it was explained to me as chance. Shit luck but it's just the way your egg divided at the moment of conception. There is nothing you can do to prevent it and nothing you do to cause it.

Age is a factor simply because your eggs have been sat there longer. Saying that I'm only 33 (32 when I conceived our dd2) which is considered a 'low risk' age group and it happened to me.

It's hard to accept but the positive thing is that these things are chance, nothing to do with weight or lifestyle (I was, and still am, very fit and healthy. I was the fittest I've ever been when I conceived dd2)

Stewierocks · 20/05/2015 11:35

News at last. Tests all clear and we're having a boy! Am so relieved. Thanks again for all your help and support, really appreciated x

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scarednoob · 20/05/2015 11:48

hoorah!!! so happy to read this. congratulations on your little boy!

Skiptonlass · 20/05/2015 12:26

Great to hear this! Very happy for you :) congratulations on your little boy :)

And just for anyone reading this who is worried about it...

As kitty says, trisomies occur by chance. When the cells divide, the chromosomes all get duplicated , they line up along the middle of the dividing cell and then half get pushed/pulled into each new cell. Humans, for some reason, are a bit rubbish at this, and sometimes one cell ends up with one copy of a chromosome and the other daughter cell gets three.

With the exception of a very, very, vanishingly rare trisomy 21 subtype, this process is random. Nothing you did, or did not do during your pregnancy or your life before it causes it. It's just the roll of the dice. Neither does your weight affect it, or your fitness etc. It's just one of those unfortunate things. Our bodies aren't designed, they are bodged along, changing over millennia with the forces of selection pressure. Hence bad backs, dodgy eggs etc.

KittyandTeal · 20/05/2015 13:43

Wonderful news stewie. I hope you can enjoy your pregnancy stress free now.

Skipton - whenever I bump into you on threads you never fail to make me feel better :)

scarednoob · 20/05/2015 14:02

yes - I think skipton's posts should be in the nhs hand-outs for sensible advice!!

Steph1502 · 20/05/2015 14:05

Congratulations xxxxx

S2b16 · 20/05/2015 14:27

Brill news Smile congratulations xxx

Skiptonlass · 20/05/2015 15:35

Thank you! What a nice thing to say. I'm a huge believer in communicating science and also that knowledge is power. Women need so much more information and it needs to be presented in a clear, non hysterical fashion.

Very happy for you Stewie :) go celebrate your wonderful news.

Springtimemama · 20/05/2015 16:11

This reply has been deleted

Message withdrawn at poster's request.

StAlphonsosPancakeBreakfast · 20/05/2015 16:37

Oh STEWIE!!! I am so so thrilled for you, what lovely news. Have been thinking of you lots. What a massive relief it is. Flowers

Stewierocks · 20/05/2015 17:33

Thanks everyone again and have a wonderful evening x

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wizzler · 20/05/2015 21:13

So pleased for you

Dua2016 · 08/04/2016 21:03

Hi had my 20 week scan where my babies nuchal fold was 7.3, they then referrd me to foetal medicine where they did another scan and nuchal fold had reached to 10.7mm. I'm so worried. I have a genetic disorder however nuchal fold is nothing linked to it. The babies measurements of heart, head, kidney, face etc are all fine it's just this one nuchal measurement that is concerning! I now need to decide if I want to go with amnio test. The consultant said it could be what you have or it could be nothing! I'm so worried, major head ache and can't sleep :( any advise ? Thank you in advance x

primarynoodle · 08/04/2016 21:23

Hi dua you mught be better starting your own thread in 'antenatal tests' you might get more relevant responses.

Firstly i am so sorry you are in this position it is the worst place to be. I have no experience with increased nuchal fold as my first dd had an increased nuchal translucency and i know these are different. I really hope its a good outcome for you - please ring the charity 'arc' who are very Knowledgeable and understanding and will offer a kind but honest evaluation of your situation based on their expertise. Flowers

Dua2016 · 09/04/2016 07:26

Primary noodle, Thank you for your reply and advise. I will defo check out other links and the charity arc. X

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