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Ive come back as 1 in 5

(27 Posts)
sweetchilli77 Tue 01-Nov-16 15:37:06

Midwife has just rung with my combination screening and says my bloods have showed I'm 1-5 for downs.

She has gone through the diagnostic testing with me but left it up to me to discuss with hubby.

I am currently 14+3 and my age is 39.
She has not mentioned anything showing on the scans. (I had a recent scan last week due to a bleed)

Just looking if anyone has been in same boat and what tests did you have if you had any.

Thanks

NeverAShadowOfDoubt Tue 01-Nov-16 15:55:11

Im 35 and got a combined screening result of 1:14 for DS and 1:28 for Edwards and Pattau. We declined amnio and CVS as I'm having twins and we didn't want to risk the whole pregnancy but we did have NIPT test called Iona which is a blood test where they look in depth at the fetal DNA found in mums blood and the results came back as very low risk for all three syndromes. Currently 25+4, we know one twin has bilateral talipes and is measuring slightly smaller than the other twin. No other issues found so far. Most of the non invasive tests aren't available on the NHS so privately they can cost in the region of a few hundred pounds. Remember that 1:5 means that 4 times out of 5 baby will not have the syndrome. I was told that what is important is what you would do if results did come back positive. Keep talking with DH. Then talk some more. Stay positive OP.

Whatsername17 Tue 01-Nov-16 15:56:17

I've not been in the same position but I know people who have. My friend had the harmony test and had to pay privately for it. It is a blood test so no risk to the baby and 99.9% accurate. Good luck with whatever you decide to do x

Blondeshavemorefun Tue 01-Nov-16 15:56:59

Sorry to hear the high risk of 1 in 5

I think many people decide to have the harmony test to have a more precise score

Also depends if the end result makes a difference - ie would you have an abortion if the Above test gives a high risk as well

Andbabymakesthree Tue 01-Nov-16 15:59:33

I had the harmony test. Discounted price through screening coordinator. Did they offer you that?

mymilkshakes00 Tue 01-Nov-16 16:04:19

Cousin showed 1 in 5 too but baby didn't have downs when she was born.
What would you feel if baby did though is the question

AlchemySchmidtsSmile Tue 01-Nov-16 16:04:38

Dc1 had a false positive for spins bifida: waited for 20 week scan
Dc2 and 3 avoided bloods altogether and had amnio both times.
It depends really upon whether it would make a difference to you.
Amnio was fine for me and gave me the definites I myself needed.
Any questions about amnio please ask brewcake

curliegirlie Tue 01-Nov-16 16:04:55

Congratulations on your pregnancy and don't panic! I didn't have this choice to make, as my NT/combined bloods gave me 1:1900, and we turned out to be the 1, but I think if I were in your shoes now, I would decline the amnio/CVS because of the MC risk, but get a NIPT done to get a more accurate chance figure. I would have no problem with having another DC with Down's syndrome, but would rather not find out by having my beautiful child's 'dysmorphic' features pointed out to us by a consultant 4 hours after the birth...

Down's Syndrome isn't the end of the world. My daughter is 14 months old, really healthy (no heart or bowel problems - we were told she had a perfect heart in fact!), a fun, giggly little girl, who has recently started commando crawling. Do have a look at the Down's Syndrome Association website, as their resources for expectant/new parents are fantastic. There are also some great FB pages - Don't Be Sorry is brilliant. It's written very honestly by the mum of a fab 4 year old called Oscar. I realise the challenges may become bigger in the future, but I know we'll be fine, and I can't imagine life without my wonderful DD. It's really not all as scary as it seems and there are some great local support groups out there.

Good luck, whatever you decide.

AlchemySchmidtsSmile Tue 01-Nov-16 16:05:10

Spina

NeverAShadowOfDoubt Tue 01-Nov-16 16:10:01

As curlie she is gorgeous! What a happy little girl!

mymilkshakes00 Tue 01-Nov-16 16:51:22

Curlie- your dd is adorable.

sweetchilli77 Tue 01-Nov-16 18:25:20

Thanks ladies.I have decided to have the amnio test after discussion with my midwife in a couple of week, i asked her about my scan and she said scan was fine just the bloods.

Im trying to stay positive and can not say how i will feel until things are confirmed.

Im grateful for any further experiences anyone has

Nikki2ol6 Tue 01-Nov-16 19:25:36

Hello. I was also 1in5. However I'm only 26 and it was at my 20 week scan when they found serious heart abnormalitys. They offered me an amnio and said a chance of miscarriage was 1in1000. So I got the amnio done there and then. All my results came back clear and we are just looking at CHD (congenital heart defects)

hopeful31yrs Tue 01-Nov-16 19:50:51

Had a 1:5 for this pregnancy as out NT was 4.2mm at 12 weeks. Was the most scary time for us. Went for NIFTY that evening privately and he next 9 days were horrendous. Lots of support and reading around helped pass the time. I wouldn't ordinarily suggest googling but there are so many good outcomes out there. I was particularly worried about chromosomal problems that were not survivable rather than downs - our screening came back as clear for everything and we had cardiac scans up to 24 weeks before being cleared for structural problems as well.

Here for support if needed. Look after yourself and take the time to talk through things with your DP. Make sure you know where you are going with extra tests - this helped me lay out my options before any results and helped to a degree. Was recommended ARC as a charity to ring also.

Blondeshavemorefun Tue 01-Nov-16 21:13:33

Curly you dd is gorgeous !!! 👶🏼💓👶🏼

As you say someone has to be that 1 tho it is still a shock when you finding out

My friend has a toddler with downs. She is the sweetest child ever

Is the risk higher with no 2 if no 1 is downs?

sweetchilli77 Wed 02-Nov-16 11:17:40

Thanks again everyone for your replies, i do feel a little reassured but still, i cant do anything until i know for sure.
I have managed to get my amnio done a week early now so its gonna be next wednesday.

Does anyone know how long it takes for results to come back? good or bad?

curliegirlie Wed 02-Nov-16 13:52:14

Thank you all! We think she's amazing, but then we're possibly slightly biased wink.

I don't know re. Subsequent pregnancies. I think I remember reading 1 in 100 (Down's Syndrome Association) but thenI also remember reading somewhere equally authoritative that there is no connection. Who knows. Anecdotally I haven't heard of many cases where there are two kids with DS in one family...

DameFanny Wed 02-Nov-16 14:02:02

I was 1 in 4 for Edwards age 34. He's nearly 13, and as perfect as a nearly 13yo can be.

Amnio took 48 hours for results - we paid for expedited.

Worst 3 days of my life though.

My fingers are crossed for you xx

sweetchilli77 Thu 03-Nov-16 11:11:08

I cant imagine Dame how you must of felt!! There seems a hell of a lot of discrepancy with the NHS testing though.

manhowdy Thu 03-Nov-16 18:44:39

Oh curliegirlie I think I am in love smile

Nikki2ol6 Fri 04-Nov-16 07:21:52

For downs Edwards and Pataus I got a call the next day with my results saying they were all clear. But I waited a further 15 days for all of the rest

sweetchilli77 Wed 09-Nov-16 18:46:35

Just an update folks....
I ended up having the Harmony/NIPT done Saturday.

just had my results through and I'm low risk at 1/10.000.

Its really made me question the way the NHS screen. I would never advise anyone to have NHS testing again if they can help it.

LHReturns Wed 09-Nov-16 18:59:03

Yeah sweetchilli congratulations! What a load off your poor shoulders.

The NHS screening process is just very different and based on a calculation of a bunch of 'signs' - which might all add up to nothing sinister at all. Harmony is looking at the actual Fetal DNA in your blood - and is as good as diagnostic as you can get without doing an invasive tests

Enjoy this - I have been checking back here for you all the time.

sweetchilli77 Wed 09-Nov-16 19:06:58

thanks LHReturns its been bleeding torture.

Ive had a sub chronic haemorrhage too so i don't think an Amnio would of been wise choice. One less thing to worry about now smile

DameFanny Wed 09-Nov-16 20:22:48

Oh hooray! Hope you can relax and enjoy your pregnancy a bit more now flowers

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