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Get updates on how your baby develops, your body changes, and what you can expect during each week of your pregnancy by signing up to the Mumsnet Pregnancy Newsletters.

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Get updates on how your baby develops, your body changes, and what you can expect during each week of your pregnancy by signing up to the Mumsnet Pregnancy Newsletters.

Antenatal tests

High risk of Downs Syndrome

45 replies

Littlebird005 · 26/06/2016 05:38

Hello all,
This is my first ever post, and in need of some support. I recently received a letter confirming the results of my screening test. It suggests that I have a 1 in 49 chance of a child with Downs or other chromosome issue. The news has come as a massive shock and I now don't know what to do. The NT part of the test appears good - a measurement of 1.6mm, however my HCG level is high and my PAPP-A seems extremely low to me (0.17MoM). I'm not sure what this means. I'm 33. This is my second pregnancy, my first ended in a MMC.

My pregnancy has already been quite stressful as I've had bouts of bleeding at weeks 8 and 12 (I'm now over 13 weeks).

Having completed some research I understand that there is a Harmony test that you can get, but i'm not sure whether it is testing the same things that have already been tested or whether it would tell me something different.

I'm feeling so helpless and alone. I don't have anyone I feel I can talk to and feeling incredibly overwhelmed. I would be grateful if anyone could please share their similar experiences.

OP posts:

Report

thepatchworkcat · 06/10/2017 12:44

Hi Lilylollylola this is an oldish thread from last year, you might get some advice and reassurance if you start a new one x

Lilylollylola · 06/10/2017 12:34

I have been given 1:64 t21 and 1:670 t13/18.

X

Lilylollylola · 06/10/2017 10:57

Had my 12 week scan on Monday. Nuchal at 2 and all else "normal" then I had bloods, received the utterly heartbreaking call today to say my bloods came back high risk. 1:67. I'm 38. And terrified. Cannot stop crying. I had a a private NIPT blood test yesterday morning.. I don't like the risk of amnio though maybe if NIPT comes back high, I will ... I'm so scared and my head is all over the place.
My bloods are: beta hcg- 0.9 and PAPP-A 0.285.

Littlebird005 · 21/08/2016 08:44

Hi Roseandwine, didn't want to read and run. I'm so sorry to hear about your results, you must be feeling extremely overwhelmed. Unfortunately I have no personal experience of what you are going through, but I would imagine that there is a chance that the amniocentesis will give you a negative result. I hope everything turns out well for you, you are in my thoughts. xxx

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YorkieDorkie · 21/08/2016 06:58

I had a CVS myself at 12 weeks which came back negative. I can't say enough how happy I am that the new test could be available on the NHS soon. Although, if I'd known about it I would have paid because the CVS was pretty horrible.

Congratulations on your news .

Roseandwine · 21/08/2016 06:21

Hi there
I just got my private blood screening test back and it shows a high probability of this pg having trisomy 21, and I am so so so worried (didn't even bother with the NHS tests as they are so unreliable compared with the dna tests).

This pg comes after a number of years of dealing with recurrent miscarriage. We thought the problem had been solved and I suppose this felt like it was supposed to be my 'happy ever after', so I am in a bad way really.

Our next move is definitely amniocentesis, as I need to know 100% what the situation is - because of the decisions that would be made on the basis of this information, even though amniocentesis carries a 1% risk of miscarriage.

I suppose what I need now more than anything is some hope. Is there anyone out there who got a high probability on their private dna screening, who had amnio or CVS and it showed a negative result? If so please, please tell me your story because I seem to have signed this baby off already!

Littlebird005 · 11/07/2016 20:04

NoThighGap, I'm so happy! Congratulations, u must feel like weight of the world has been lifted from your shoulders!

I hope the rest of your pregnancy is stress free! Post a pic of your wee bundle when he or she arrives, would love to see him or her xxx

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rosegoldie · 11/07/2016 19:29

Sorry just seen that you have had results already! Great news xxx

rosegoldie · 11/07/2016 19:28

Hi little bird

I had a 1 in 8 risk of Down's syndrome. I'm 28 and the nt measurement was 3mm, and my hcg was very high.

It was a difficult decision to make but my husband and I decided we wanted a diagnostic test (rather than another screening test like harmony, even though the accuracy is v high) and we wanted to find out sooner rather than later. Harmony tests can take up to 2 weeks for results to come back I think.

We had a cvs and it wasn't pleasant but it wasn't as bad as I expected and we found out baby is fine with no chromosomal abnormalities.

I know the pain and upset you must be going through and I hope you are ok. If you have any qs please feel free to get in touch.

Xxxx

NoThighGap · 09/07/2016 20:05

Sorry for lack of update, didn't get results until Thursday and had nearly gone mad with lack of sleep...but all ok!!
Complete relief although has taken a few days for the anxiety to completely subside and I am still a bit nervous about the 20 week scan although I'm not sure why.

Also, I still have to have extra scans/monitoring due to very low Papp-A.

Littlebird so glad everything ok for you too.

Ilovemygsd · 07/07/2016 21:59

I had 1/50 of down syndrome with my ds, I had the amniocentesis and came back low risk. I then got a call (2/3 days later) and sent to see a genealogist at a major hospital who told me my son had a balanced translocation, of gene 6 & 13, after me and his dad had blood test to insure we hadn't passed it down (we hadn't) It was recommended I had a abortion, I did not follow there recommendation. 7 years later I saw that genealogist in the paediatrics hospital when we was there for a check up. I reminded him what he said to me and introduced him to my nearly perfectly healthy son, he actually apologised and said they have to give worse case scenario. So for all the posters waiting on results and stressing.... There's a happy ending :)

Littlebird005 · 07/07/2016 21:47

Hey NoThighGap, just wanted to check in and see how you are. Hope all is ok. Thinking of you xx

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MadeForThis · 05/07/2016 23:06

Glad to hear your news littlebird

Littlebird005 · 05/07/2016 17:42

Aw NoThighGap I'm sorry to hear that. DH and I went through a very similar experience, so know how horrible it is. As if it wasn't bad enough that you have the stress and worry of the results life has to throw another curveball and make you worry about the impact it could have on your relationship. I found this particularly difficult - at a time when we really needed to be on the same page we were coming at it from different angles and it sent me into a tailspin. I'm sure the results will come back and everything will be OK, but if they weren't to be then I would urge your DH to look into it a lot more. I found the downs syndrome association website particularly helpful, and there is a section for expecting parents/ new parents that was really good. Think there is even people you can speak to and I think being informed about something can really help put it in perspective and change his mind. At the end of the day I think people are terrified about the unknown - and it is always a lot scarier than the reality. I found it so helpful to know that there is support out there, and I have found a great amount of comfort in posting on here. It's the best decision I've made and appreciate your support. If you ever need to talk, I'm here for you and I know exactly the hell you're going through.

How frustrating that you missed the call. They should have left you a message! It's really mean not to have given a number you could call back to ensure you speak to someone. Surely they must know what an anxious time this will be. Keep trying!

We had good news today and got our results, which confirmed that we are low risk. Can't describe the emotions that were running through me, I was practically hyperventilating when I got the results. I would not wish the past 10 days or so on my worst enemy, it really has been sheer torture.

I hope you manage to get your results today and don't have to wait until tomorrow. I'm sure everything will be fine and I am keeping my fingers and toes crossed for you. Let me know how you get on. Big hugs xxxx

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NoThighGap · 05/07/2016 15:38

Not doing great actually. Despite trying not to cross bridges before we come to them and all that, we ended up having a chat about what we would do if tests were positive for Down Syndrome and DH would want to end pregnancy and I would want to continue (I think, not entirely sure).

Also, I had a missed call from the clinic this afternoon when driving and now they are not answering phone. Have left messages and rung lots. Aaaarrghhh!!!

Hope you are ok Littlebird . I also have a part of me that doesn't actually want to know the results as I might then have to actually make a decision...

Littlebird005 · 03/07/2016 20:39

NoThighGap, how have you been doing? Time has come to a standstill for me. On one hand I want the results to come ASAP but on the other I don't know if I want to know and just pretend this has all been a dream (which in a bizarre way it feels like it is). Hope you're doing ok anyway and hoping for good news for you this week xxx

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hopeful31yrs · 30/06/2016 22:10

Just been through this with a 1 in 5 risk of downs due to an NT of 4.2mm. We went and had a NIFTY test in Cardiff and can't recommend it highly enough. So reassuring and we had the results before our fetal medicine appointment came through even! We arrived at the appointment with results in hand and didn't need any further amnio/CVS. Now 20 weeks and just had cardiac scan yest and no evidence of any further issues - NT is now small and normal.

All the best for the remainder of the wait - worst 10 days of our lives. xxx

MadeForThis · 30/06/2016 10:53

Congratulations redwoman. Great relief I'm sure. Enjoy the rest of your pregnancy x

TheRedWoman · 29/06/2016 22:52

Thanks Little and Nothigh. If only I could have a glass of something to celebrate x

Littlebird005 · 29/06/2016 21:35

NoThighGap, likewise this week at work has been another level of busy so it's kind of distraction but at same time my head feels full of cotton wool. You can't beat a bit of trashy to to try and distract the mind. I'm replacing the wine with chocolate, finding it helps a bit xxx

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Littlebird005 · 29/06/2016 21:30

TheRedWoman fabulous news!!!! I'm chuffed to bits, hope you're managing to celebrate tonight. I must feel like the weight of the world has been lifted off your shoulders. And a wee girl!! . Hope the rest of your pregnancy is a breeze! Xxx

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BellaBellaBelle · 29/06/2016 20:01

That's fantastic news redwoman. I hope you manage to enjoy the rest of your pregnancy and your little girl when she finally arrives.

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TheRedWoman · 29/06/2016 19:41

Delighted to tell you I got my results at 5pm this evening and they are all low (1 in 10,000). We are so, so happy and can relax at last! We also found out we are having a girl

They came back much quicker than anticipated, 8 days rather than the estimated 10.

Wishing you speedy results x

lcoc2015 · 29/06/2016 17:56

Bellabellabelle - thats great news it'll save so much unnecessary worry that arises from the current NHS / nuchal type screening. Hope the posters upthread get happy news soon x

BellaBellaBelle · 29/06/2016 16:46

The NHS are actually working towards their own version of the harmony test (we were involved in a trial around the time that I had the cvs) which is a positive step. As the pp said I don't believe it will replace the amnio completely but many more people might opt to have the harmony type test initially.

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