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1 in 40 downs syndrome risk - any advice please

(25 Posts)
shakeatailfeather Sun 02-Jul-17 11:25:17

C and p from chat as I had forgotten about this board. I have had some good advice from posters but would like any on here's thoughts too.

I am nearly 13 weeks pg with dc2 and found out on friday that my risk of down's syndrome is 1 in 40. I am very scared.
I will be 40 at edd and am overweight. My nt measurement was 1.50mm and the sonographer was very happy with everything on the 12 week scan, so I think the risk factor have come from the blood side of things. I have been informed that the beta hcg was 1.58mom and the papp a was 0.28 mom but other than that I don't know anything. I feel like I need more information.

I have been told about nipt, cvs and amniocentesis, but feel like i don't know what is best.

It's taken the best part of 3 year of ttc to get here (we were very close to trying ivf) and just before getting the bfp, dh was diagnosed with cancer (potentially incurable) so this really feels like the last chance of us having another child. The risks of miscarriage with cvs and amniocentesis scare me, as does the potential results
I am really scared and don't know what to do.

Any advice

ems137 Sun 02-Jul-17 11:29:05

Have you looked into a private harmony test. It's a simple blood test which will tell you for certain without the risks. In my area they cost around £350 x

Diamondlife Sun 02-Jul-17 11:33:14

Hi op. Sorry you're going through this.
I suppose the first question you need to ask yourself is 'do I want a baby with ds?'
If the answer is a definite no, then you proceed with further testing.
I personally wouldn't risk invasive tests if I was going to keep the baby no matter what. Maybe wait to see what shows up on the 20 week scan?

EggysMom Sun 02-Jul-17 11:34:06

Would the results make a difference to you, would you consider not going ahead with the pregnancy?

I was 40, my bloods came back as 1 in 5 chance of our son having DS. We discussed it and decided not to test, we would have our child regardless as the odds were 4 in 5 that our son would be okay. We had additional monitoring, more scans etc (with free photos!) Our son was born premature, doesn't have DS. He is autistic but there is no antenatal test which could have picked that up.

shakeatailfeather Sun 02-Jul-17 11:40:41

Thanks ems. I think a nipt test us the way I am heading. I know it's not diagnostic but it supposed to be really accurate isn't it?

shakeatailfeather Sun 02-Jul-17 11:40:44

Thanks ems. I think a nipt test us the way I am heading. I know it's not diagnostic but it supposed to be really accurate isn't it?

user1473602935 Sun 02-Jul-17 11:48:55

You should be able to get the harmony free on NHS

shakeatailfeather Sun 02-Jul-17 11:50:13

Thanks all I only just saw the other replies. Dh and I feel very confused about what we would do with results. Dh's sister has serious physical disabilities and he knows the impact of it on the family as a whole. We also have little support from wider family. However I don't think I could not have the baby as it really feels like the last chance we have and there are so many difficulties that can't be tested for.

It's just so hard. I think I will contact arc tomorrow and then try to decide something.

Thanks again

shakeatailfeather Sun 02-Jul-17 11:55:30

Unfortunately our locality can't get it free til next year user. Typical isn't it.

Troika Sun 02-Jul-17 11:59:19

My risk was 1 in 44 with dc3. I had the cvs test which showed there were no abnormalities. It was a hard call due to the risks, and the fact I wasn't sure whether a positive result would make a difference to me, however dp didn't want a child with downs syndrome so that was the deciding factor really.

user1473602935 Sun 02-Jul-17 12:12:33

My friend was told 1 in 5 chance at 12 weeks. She then had the harmony and was told it was totally fine

Chances are you'll be fine

Scary time for you but I would go with whatever further tests the NHS offer. Good luck x

usernameinfinito Sun 02-Jul-17 12:22:26

eggy your story is not the first I hear about a pregnancy showing high(er) risk for ds, having further tests showing no ds but the child being diagnosed with autism further down the line. I am no scientist but it does make me wonder if there is a link. I am aware that there is no test for autism now btw.

MoreProseccoNow Sun 02-Jul-17 12:50:14

OP, I think your PAPP-A is low & that is skewing the results (your risk is calculated by putting it, neuchal result, weight in to an equation) which gives your risk result.

Is there anyone in Foetal Medicine you could ask to help you interpret the results & decide what's best? I just spoke to them by asking to go through switchboard & they were very helpful (as are ARC mentioned above).

Also, 1:40 means that 39:40 will be ok flowers

I ended up having an amino, as I knew I couldn't cope with a child with DS/trisomy etc.

Wishing you all the best with everything; it sounds like you have been through a lot to get where you are.

usernameinfinito Sun 02-Jul-17 13:02:34

Sorry OP my last post did not answer your question. I guess it depends whether you feel able to have a child with ds. Not just the baby/child stage but think of everything that will involve, appointments, your work, your other child, relationship with a partner, etc. See what resources you do have. No one plans for a child with a disability, so I guess in that sense knowing before the birth can help with any decision you take, keeping the pregnancy or termination if that is what you want. All the best flowers

Jessybear90 Sun 02-Jul-17 15:55:21

Hi OP,

I'm in a very similar situation, high risk due to bloods alone (scan was fine, NT normal) however my bloods were worse than yours, I have a very high HCG and our risk is 1:85 I'm guessing my odds are better because I'm 26.

We were offered the Iona test which we had to pay for private and getting the results next week. It's a blood test and is 99.7% accurate.

It's still only screening and not diagnostic but we wanted to try this first before the amnio. My advice would be look into all options and act as soon as possible because the wait for these test results has damn near killed me. Hoping and praying for you and your little one and your DH is he receiving treatment for the cancer? X

shakeatailfeather Mon 03-Jul-17 12:41:25

Thanks again everyone. After all your advice and speaking to the midwives I have booked a nipt for tomorrow. Fingers crossed for the best.

Dh is having chemo. 2nd round this week - we have interesting timing!

Jessybear90 Mon 03-Jul-17 15:27:40

Well done OP. Have they given you a turnaround time? Ours was 3-5 working days and tomorrow will be the 5 working days so they have taken the maximum time.

Just know you're not alone in now you feel, a lot have been through the same. Good luck to DH and chemo, that in itself is a very difficult thing but hang on in there, you're doing all you can flowers

shakeatailfeather Tue 11-Jul-17 12:07:15

Hi again all,

just wanted to update. Nipt results came back today and I'm low risk (1/10000!!) Very relieved and hoping that I can start to relax a little bit now.

Also its a girl smile))

LTBiscuit Tue 11-Jul-17 12:11:19

Huge congratulations! Wonderful news flowers

shakeatailfeather Tue 11-Jul-17 14:50:20

Thanks smile

Jessybear90 Tue 11-Jul-17 19:33:37

Fantastic news! Congrats! That's the perk of the nipt. You got to find out the sex! flowers

Turkeyneck Tue 11-Jul-17 20:38:28

Good news, congratulations. I was in exactly the same position, nuchal scan was fine but bloods were unusual. I had a 1 in 49. My dd was born healthy, no syndromes. I was 35. Just wanted to offer support and understanding. Xx

usernameinfinito Wed 12-Jul-17 00:16:04

Congratulations OP!

shakeatailfeather Wed 12-Jul-17 17:18:25

Thanks all smile

Hellothereitsme Wed 12-Jul-17 17:20:24

Well done. Xx

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