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Ive come back as 1 in 5

(124 Posts)
sweetchilli77 Thu 03-Nov-16 19:20:33

Midwife phoned to tell me my results show i am 1 in 5 at risk of T21.

I was taken aback really and wasn't really listening to the results she explained.

She went on and explained about diagnostic testing and to discuss with Hubby.

She said the scan was fine, just the bloods

I have decided to have the amnio test after she explained the risk and % of miscarriage .
Has anyone any advice on this? like does the procedure hurt? how long do results take etc.

Im frightened sad
This is my 1st pregnancy and I'm 39 at the end of the month.

Pixiedu5t Thu 03-Nov-16 19:30:47

Sorry to hear this sad

When I was pregnant we were told ds2 was 1:33 chance of having downs.
Our god daughter has downs so naturally I phoned her mum and spoke it though with her. We never had any doubts about keeping our baby - regardless. My friend said if we found out we would be more prepared for the life we were going to lead and not stressing over it the rest of the pregnancy.
My husband was also in Afghanistan when I found this out sad

Do my husband came home (as planned) a week later and I had the amino.
The doctor assured me it was only as painful as giving blood.
However I found it very painful as my stomach started contracting when the needle was in. The wait after wards to check our little man had made it was also horrible!

He was fine, our minds rest assured etc

However if I was to have this happen again (very unlikely as hubby has had the snip) I would never ever go through it again.

It's a big decision. Hope it all works out for you xx

Heratnumber7 Thu 03-Nov-16 19:32:56

There's only any point in having the test if you are prepared to make a decision depending on the result.
If you're not, there is no point in putting the baby at risk.

NutellaCookie Thu 03-Nov-16 19:37:58

Sorry to read this OP, you must be in shock.
No experience of amnio but I did have a NIPT test earlier this year as my results were high for downs syndrome. We opted for the non invasive test and had it the next day at a private clinic and the results 10 days later. It wasn't cheap but we didn't want to risk miscarriage so it felt like a small price to pay. Is this an option for you?

Coi123 Thu 03-Nov-16 19:49:20

I had a 1 in 110 chance of DS. It was my first pregnancy and it was a huge shock as nuchal was good and scan also good, I'm 30 so age didn't affect the combined scrrening either. It was my PappA that made the impact. We chose to have the amniocentesis test. I won't lie it was quite painful but only for a little bit as the needle goes in (mine ended up having to go in 3 times to get the right fluid). I felt abit sore for the rest of the day and took it easy which you are supposed to do anyway. The next day I felt ok but still rested.

sweetchilli77 Thu 03-Nov-16 19:56:00

Thanks for replies so far everyone. One of the reasons i decided the amnio was 1)because it was all in the same hospital etc. 2) I'm presuming the results are quicker?

Im looking at private testing and scan but it says results approx 2weeks? i can not wait that long no way sad

Coi123 Thu 03-Nov-16 20:17:12

I was the same. I was in between getting in for the CVS and there ended up being no appointments then had to wait a week for the amniocentesis then 4 days for the results. It's just excruciating.

Oly5 Thu 03-Nov-16 20:21:19

This test is about to be approved on the NHS and is non-invasive. You can get it privately and rapidly if that's a route you can go down

sweetchilli77 Thu 03-Nov-16 20:24:31

i cant really wait till 2018......
i really don't know know what to do for the best. private or NHS

KittyandTeal Fri 04-Nov-16 18:17:08

The amnio will come back with rapid results for major trisomies in 48 hours. The full karyotype takes around 6.

I found the amnio fairly painless but a strange feeling. I was a little crappy afterwards. If you are before 15 weeks they usually do a cvs which I gather is a little more uncomfortable as it is essentially a placental biopsy rather than collecting fluid.

The nipt test won't give a definite answer but they are almost diagnostic for t21. If you think you would continue but want to know in order to plan then this might be the better option.

ARC are a brilliant charity who can talk through all your options and testing procedures with you.

Bumblebee84 Sat 05-Nov-16 04:09:13

Op I hope you get good results. Last week I opted for the nipt after getting 1:11 for t21 with nhs bloods. (Nt was good) looking back now I should have just had an amnio straight away as I have just prolonged the results.
The nipt has also come back with a high risk of 95%. I am waiting on an amnio on weds but I am just besides myself with worry praying that it's just my placenta that carries the chrome. I won't have a cvs as it too only checks the placenta DNA not the fetus and I can't help but feel my placenta is an issue after having all small babies previously.
I know my outcome is not looking good and I just can't shake the feeling that they are wrong and that my baby is ok.

sofato5miles Sat 05-Nov-16 04:53:24

I was 1:2. Had a CVS and now am a mother to a very chirpy and neuro typical 6 year old son.

Oly5 Sun 06-Nov-16 07:14:08

I would go for nipt privately.
If that comes back v high then go for amnio

sweetchilli77 Wed 09-Nov-16 18:42:45

Just wanted to update.....

Had the Harmony/NIPT done Saturday and they have just rang with my results which where LOW risk.....1/10.000

With a sub chronic haemorrhage I'm so glad i didn't opt for the Amnio now.

Bloody NHS testing! i swear will tell everyone to go straight for the NIPT. Its made me so ill worrying. So glad its over

Bumblebee84 Wed 09-Nov-16 19:26:35

Glad you got good results, 😊 Time to relax and enjoy your pregnancy now.
I have literally just got home from my amnio.
It's uncomfortable but bearable.
Sadly my waiting game is still not over. Fingers crossed though.

sweetchilli77 Wed 09-Nov-16 19:46:09

Bumblebee84 i will be thinking about you, and if you feel up to it hope you report back.
The waiting is awful isn't it.

Bumblebee84 Wed 09-Nov-16 20:16:21

Thank you, it really is. I'm so confused by it all and the specialist this eve even looked baffled by my nipt results. 😒

Coi123 Wed 09-Nov-16 20:37:33

Glad that you had positive results sweetchilli! Thinking of you Bumblebee. It is an awful time waiting for those results x

sweetchilli77 Thu 10-Nov-16 14:34:49

Bumblebee84 I keep thinking about you and popped on to see if there was any update. I just said to my husband, "i need to see how this lady is getting on" the anxiety is enough to push anyone over the edge so i know only too well how you feel.
I sometimes felt the anxiety is worse than the possible outcome, at least you will know either way then.

Thinking about you

Bumblebee84 Thu 10-Nov-16 14:56:22

Thank you, I will know nothing until Monday/Tuesday but after the midwifes comment at the fetal medicine I'm losing why little hope I had.
I'm hanging in there on the hope it's my placenta affected only.
Your right the anxiety drives you insane!

sweetchilli77 Tue 15-Nov-16 10:28:22

Hi Bumblebee84 i was just checking in to see how things are. Hoe you are well whatever the outcome

Bumblebee84 Tue 15-Nov-16 11:14:56

Still waiting on the call, thank you for caring.
I'm becoming so anxious I don't want to hear the results from the hospital so I've asked my partner to deal me the news.

sweetchilli77 Tue 15-Nov-16 13:28:34

Its so dreadful its almost painful the waiting. Well i have everything crossed for you x

SarcasmMode Tue 15-Nov-16 13:50:31

Wishing you the best of luck bumble.

Bumblebee84 Wed 16-Nov-16 07:23:21

Last night I finally received my call. Amnio inconclusive due to mothers DNA contamination. 😔 I have to go back today for a blood test now.

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